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Although patients with multiple myeloma (MM) have improved survival with current therapies, there remains a long-term risk of treatment-associated second primary malignancies. We present a case of a patient with IgG kappa MM undergoing treatment for relapsed disease who was noted to have progressive pancytopenia. For his MM, he had previously undergone autologous stem cell transplant with high-dose melphalan and had received immunomodulatory (IMiD) agents in induction, maintenance and relapse regimens. A peripheral blood smear showed abnormal lymphoid cells, and a bone marrow biopsy revealed B-cell acute lymphoblastic leukaemia (B-ALL). He underwent intensive induction chemotherapy with plans for possible allogeneic stem cell transplant. Secondary B-ALL is a rare occurrence in patients with MM, with exposure to alkylating and IMiD agents being potential risk factors.

Summary: A 74-year-old female with a background of rheumatoid arthritis, managed with weekly methotrexate, was admitted with; oedema, dyspnoea, cachexia and jaundice. Bloods revealed pancytopenia, hyperferritinaemia, hyperbilirubinaemia, hypoalbuminaemia and hypofolataemia. Imaging showed a large right-sided pleural effusion, requiring therapeutic aspiration, and splenomegaly. Bone marrow aspirate revealed haemophagocytosis. Differential diagnoses included methotrexate toxicity (MTXT) and haemophagocytic lymphohistiocytosis (HLH). Management was initiated for MTXT whilst ongoing investigation for possible HLH continued. [ABSTRACT FROM AUTHOR]

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome and haemophagocytic lymphohistiocytosis (HLH) are rare but severe immune-mediated diseases with overlapping clinical manifestations. We present a case of a woman in her late 40s with rheumatoid arthritis who developed DRESS/HLH overlap syndrome after starting hydroxychloroquine and leflunomide therapy. Despite corticosteroid treatment, her condition worsened, necessitating etoposide therapy. The persistent pancytopenia required supportive measures, including transfusions of blood products and administration of growth factors. Tofacitinib was successfully used as a steroid-sparing agent and resulted in the resolution of symptoms without relapse during a 2 month follow-up. This case emphasises the diagnostic and therapeutic challenges posed by the co-occurrence of DRESS and HLH and highlights the importance of tailoring treatment strategies to achieve good outcomes., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.)

Nephrotic syndrome is characterised by heavy proteinuria secondary to glomerular injury. It is an uncommon but serious complication of allogeneic haematopoietic stem cell transplant (HSCT), but rarely reported after autologous HSCT. Here, we report the case of a man in his mid-20s who presented with significant peripheral oedema 2 months after autologous HSCT for Hodgkin lymphoma. Investigations demonstrated nephrotic range proteinuria and hypoalbuminaemia. Renal biopsy demonstrated minimal change disease. Initial treatment with glucocorticoids was complicated by toxicity without remission. However, the clinical and biochemical resolution of his nephrotic syndrome promptly followed administration of rituximab. This case highlights nephrotic syndrome as a complication after autologous HSCT and suggests potential effectiveness of rituximab in minimal change disease in the presence of steroid toxicity or other contraindications., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.)

BCR::ABL1-like B-lymphoblastic leukaemia (B-ALL) neoplasms lack the BCR::ABL1 translocation but have a gene expression profile like BCR::ABL1 positive B-ALL. This includes alterations in cytokine receptors and signalling genes, such as CRLF2, ABL1, ABL2, JAK2, PDGFRB and EPOR Cases with CRLF2 rearrangements account for approximately 50% of cases of Philadelphia-like acute lymphoblastic leukaemia (Ph-like ALL), and the frequency of specific genomic lesions varies with ethnicity such that IGH::CRLF2 translocations are more common in Hispanics and Native Americans.We report two cases of BCR::ABL1-like ALL, with significant eosinophilia. A Hispanic man in his early 20s and a Hispanic woman in her 50s presented with leukocytosis and eosinophilia. Bone marrow flow cytometry revealed lymphoblasts expressing CD19, CD10, partial CD20, CD22, CD79a, CD38, CD34, TdT and HLA-DR. Examination of the bone marrow biopsy and aspirate exhibited a hypercellular bone marrow with increased blasts and elevated eosinophils. Fluorescence in situ hybridisation (FISH) demonstrated a cryptic chromosomal rearrangement between the X chromosome and chromosome 14 at breakpoints involving IGH at 14q32 and CRLF2 at Xp22.33, t(X;14)(p22.33; q32).These findings confirmed the diagnosis of BCR::ABL1-like B-ALL with IGH::CRLF2 rearrangement. One patient (man) attained complete remission with induction therapy using the paediatric CALGB 10403 protocol, while the other patient (woman) had a poor outcome after receiving a hyper-fractionated cyclophosphamide, vincristine, doxorubicin and dexamethasone regimen. These two cases demonstrate an unusual presentation of BCR::ABL1-like B-ALL and emphasise the importance of appropriate cytogenetic studies for correct diagnosis. When treated with conventional chemotherapy, these cases carry a poor prognosis and might require allogeneic transplantation., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2025. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ Group.)

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This case highlights the importance of thoroughly investigating incidental findings, particularly in patients with unexplained symptoms. Solitary plasmacytoma, though rare and accounting for 4-5% of plasma cell dyscrasias, can occur outside the spine and may present without systemic symptoms. Early diagnosis through imaging and biopsy is crucial for appropriate management, as these lesions can be effectively treated if identified early., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.)

Multiple myeloma is a rare haematologic malignancy, representing about 1-2% of all cancers and 17% of haematologic malignancies in the US, predominantly affecting older adults and more common in African Americans (AAs) and men. Light-chain multiple myeloma, a subtype accounting for 15% of multiple myeloma cases, often has a more aggressive clinical course. This case report discusses a rare case of an AA female in her early 30s, diagnosed with light-chain multiple myeloma following a pathological rib fracture. Initial symptoms were atypical, and diagnosis was delayed due to her young age and lack of common multiple myeloma signs, such as anaemia and hypercalcaemia. Treatment included induction chemotherapy and autologous stem cell transplant, leading to complete remission. This case underscores the need for heightened clinical suspicion and thorough investigation in young patients presenting with unexplained bone lesions, highlighting the diverse presentations and challenges in diagnosing multiple myeloma in younger populations., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.)

Von Willebrand's disease (vWD) is an inherited coagulopathy. In women, this condition can present as periovulatory intra-abdominal bleeding or bleeding from the corpus luteum. A diagnosed case of vWD presented as an emergency with nausea, acute abdominal pain and dizziness. There was no history of amenorrhoea, abdominal trauma or bleeding from any other site. Urine pregnancy test was negative. Intra-abdominal bleeding was suspected as her repeat blood counts showed progressive fall in haemoglobin. Emergency laparoscopy was performed with provisional diagnosis of a ruptured ovarian cyst, which confirmed haemoperitoneum. However, both ovaries were normal and no bleeder was identified despite thorough intraoperative exploration. This case highlights that Von Willebrand factor replacement may suffice as the treatment even if the cause of haemorrhage remains unidentified in vWD. The challenges of undertaking surgery in patients with coagulopathy and perioperative management are discussed., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.)

A man in his 60s suffered from refractory, biopsy-proven subacute cutaneous lupus erythematosus that required chronic, moderate dose steroids to manage. His rash was accompanied by arthralgias and negative autoantibody testing. His subacute lupus erythematosus (SCLE) was responsive to tofacitinib, but thrombotic complications limited the use of this medication. He continued prednisone 20 mg daily to manage his symptoms until treatment with anifrolumab completely cleared his skin. During a subsequent prednisone taper, he developed a macrocytic anaemia and elevated liver function tests that continued to progress. Ultimately, a bone marrow biopsy and myeloid next-generation sequencing revealed cellular vacuoles and UBA1 gene mutation, respectively, consistent with a diagnosis of VEXAS ( v acuoles, E 1 enzyme, X -linked, a utoinflammatory, s omatic) syndrome. We believe the chronic steroid use to control his SCLE masked the underlying diagnosis for many years., Competing Interests: Competing Interests: JMK has received grant support from Q32 Bio, Celgene/Bristol-Myers Squibb, Ventus Therapeutics, Rome Therapeutics, and Janssen. JMK has served on advisory boards for AstraZeneca, Biogen, Bristol-Myers Squibb, Eli Lilly, EMD serrano, Exo Therapeutics, Gilead, GlaxoSmithKline, Aurinia Pharmaceuticals, Rome Therapeutics, Synthekine, Vivideon, and Ventus Therapeutics. All other authors have nothing to declare., (© BMJ Publishing Group Limited 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.)

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A woman in her 70s, with a background of mantle cell lymphoma (MCL), presented with headache and diplopia. Neuro-ophthalmic examination revealed a combination of Horner syndrome and ipsilateral pupil sparing oculomotor nerve palsy (ONP). Cerebrospinal fluid immunophenotyping demonstrated CD5 positive clonal B lymphocytes, consistent with neurological involvement by MCL. Imaging of the brain and orbits was normal, but a cervical mass was seen along the course of the sympathetic chain accounting for the Horner syndrome. She was treated with intrathecal chemotherapy with improvement in symptoms and resolution of ophthalmoplegia but was left with residual anisocoria and mild ptosis. This presentation (concomitant Horner and ipsilateral ONP) is rare and typically localises to the ipsilateral cavernous sinus, which appeared radiologically normal in this case., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Venous thromboembolism (VTE) is a rare event in children and does not usually trigger investigation for malignancy. We report the case of a previously healthy female teenager presenting with unilateral leg swelling. Colour-Doppler ultrasound confirmed deep vein thrombosis (DVT), and the thrombophilia workup was negative. Cross-sectional imaging identified multiple liver and lung lesions, diagnosed as epithelioid haemangioendothelioma (EHE) at biopsy. Lifelong anticoagulation was commenced; the patient was initially observed and then started on sirolimus at disease progression. We describe the first published case of EHE presenting with DVT in a child. Clinicians need to be mindful of the association between cancer and thrombosis, even in paediatric patients., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

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Amyloidosis is a rare, multisystem disease that leads to deposition of misfolded proteins in various organs. This case report presents a patient with cancer with a rare diagnosis of diffuse alveolar-septal transthyretin (TTR) amyloidosis with subsequent protein electrophoresis identifying monoclonal gammopathy of unknown significance. It highlights the association of amyloidosis with malignancy and the importance of including workup for plasma cell dyscrasias in patients found to have TTR amyloidosis. There are major differences in the clinical course and treatment of amyloid light chain and amyloid transthyretin amyloidosis, and evaluation of the precursor protein(s) is critical as a guide for management., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Immune thrombocytopenic purpura (ITP) is an uncommon condition resulting from the autoimmune destruction of platelets. A man in his mid-30s, who had received three doses of the SARS-CoV-2 vaccine a year prior, was diagnosed with ITP 3 weeks after contracting COVID-19. Mechanisms of SARS-CoV-2 induced thrombocytopenia may include bone marrow depletion, coagulation consumption, mutations resulting in cytokine release or molecular mimicry leading to autoimmunity. Initial treatment involved glucocorticoids, but the disease course progressed into glucocorticoid-resistant ITP. Subsequently, the patient was diagnosed with ITP refractory to intravenous immunoglobulin, thrombopoietin receptor agonist, rituximab, cyclophosphamide, inhibitors of BTK and SYK, and other pharmacological agents. Despite exhaustive medical interventions, bleeding diathesis and platelet counts worsened, so the patient underwent a splenectomy resulting in the resolution of the thrombocytopenia., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

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Acquired factor V (FV) inhibitors are extremely rare and present with a broad spectrum ranging from asymptomatic laboratory anomalies to life-threatening critical bleeds. The overall rarity along with the heterogeneity of clinical presentations poses a challenge in diagnosis. There is currently no standard of care immunosuppressive therapy (IST) in these settings. Most patients in the literature receive multiple agents, including but not limited to combinations of IST and/or recombinant products.Here, we present a case of a man in his 50s who initially presented with oozing at peripheral IV and tracheostomy sites with intermittent epistaxis. He was later found to have an FV activity level of less than 1% and an FV inhibitor titre of 184 Bethesda units/mL. The patient was initially stabilised with fresh frozen plasma, platelets and tranexamic acid and treated with intravenous immunoglobulin and glucocorticoids. However, this resulted in only mild improvement in his coagulation studies. He was then treated with weekly doses of rituximab for 4 weeks with ongoing glucocorticoids without complications. This adds to the growing literature on rituximab as a possible treatment option for acquired FV inhibitors., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Literature on haemophilia in the Philippines is sparse, especially in the neonatal group. This report showcases a newborn from a resource-limited country who was worked up for haemophilia after presenting with a strong family history and a large haematoma on his blood extraction site. Laboratory tests showed a normal platelet count, deranged coagulation parameters and severely decreased Factor VIII activity levels. Due to the unavailability of Factor VIII concentrate, the patient was transfused with fresh frozen plasma with no recurrence of bleeding and was discharged well. He was referred to haemophilia foundations for procurement of Factor VIII concentrates for emergency use. Subsequently, the patient presented with spontaneous left cheek swelling at 3 months old. Repeat coagulation parameters showed a twice elevated partial thromboplastin time and he was given Factor VIII concentrate at the emergency room. This report also discusses the challenges in the diagnosis and management of haemophilia in the Philippines., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Primary localised cutaneous nodular amyloidosis is a rare form of amyloidosis characterised by amyloid deposition in the skin but a lack of further organ involvement; therefore, it is not a systemic disease that progresses to complication. Limited knowledge exists on the causes and outcomes of long-term cutaneous nodular amyloidosis patients. This study reports a case of a woman in her late 80s presenting with a primary cutaneous nodular amyloidosis, with yellow, white plaques and a focal area of violaceous nodules along the inferior lumbar spine. Notably, this rash has been present for nearly 40 years. Histopathological examination revealed amyloid deposits, but further examination showed no amyloid systemic involvement. Recognition of primary nodular amyloidosis through skin biopsy is essential, and current clinical recommendations are to perform pathology examinations to make the diagnosis., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Mycosis fungoides (MF) is the most common type of cutaneous T-cell lymphoma in adults. However, it is rare in middle childhood. Such cases usually present with hypopigmented patches that may mimic common childhood dermatoses, thereby causing a delay in the diagnosis. Sezary syndrome is a rare and aggressive leukaemic variant of cutaneous lymphoma. We report a patient in middle childhood who presented with recurring non-specific folliculotropic manifestations. The final diagnosis of MF was arrived at after excluding all other possible dermatoses. Within a few months of skin manifestations, our index child was found to have blood involvement with similar clonal T-lymphoid cells. Such rapid development of Sezary syndrome within months of cutaneous presentation has never been described. There are no established treatment guidelines for the same in paediatric population. The patient underwent a matched sibling allogeneic transplant after a course of topical steroids and skin electron beam therapy., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Transfusion-associated graft-versus-host disease (TA-GVHD) is a fatal complication that occurs in both immunocompromised and immunocompetent individuals following blood transfusion. It is characterised by donor lymphocyte attacks on recipient tissues. We present a case of TA-GVHD in an immunocompetent man in his 70s who developed fever, diarrhoea, rash and pancytopenia after non-irradiated blood transfusion from an unrelated donor. Despite aggressive treatment, the patient's condition deteriorated leading to his death, highlighting the challenges in recognising and managing TA-GVHD. This case emphasises considering TA-GVHD as a differential diagnosis in patients exhibiting symptoms post-transfusion, particularly in populations with high rates of consanguinity. This raises the likelihood that a population will have a high prevalence of a certain human leucocyte antigen. Prevention strategies, such as irradiation of blood products, are essential in reducing the risk of TA-GVHD. In this case, TA-GVHD affected an immunocompetent individual after receiving blood from unrelated donors, highlighting the importance of vigilance., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

We present a case of acute-onset orbital inflammation with rapidly progressive proptosis, episcleral venous stasis with raised intraocular pressure and loss of vision in a patient with a recent diagnosis of chronic myelomonocytic leukaemia (CMML). The patient's orbital inflammation and ocular hypertension showed no response to topical and systemic pressure-lowering agents and non-steroidal anti-inflammatory agents but resolved rapidly after the commencement of intravenous steroids. The patient was subsequently treated with the hypomethylating agent azacitidine with good systemic control of CMML with no further orbital inflammation. CMML is strongly associated with systemic inflammatory disease, possibly due to the upregulation of inflammatory pathways in the abnormal monocytes. CMML is a rare cause of orbital or ocular inflammation but should be considered in patients with persistent monocytosis., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

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We report a case of gangrene and osteomyelitis of the toe in a young, previously healthy male with undiagnosed essential thrombocythemia (ET). The patient experienced persistent right fifth toe pain, discolouration and ulceration for 3-4 months, unresponsive to antibiotics. Despite multiple normal X-rays, 2 months later, MRI revealed osteomyelitis. On inpatient admission, testing revealed thrombocytosis and abnormal blood flow to right fourth and fifth toes without thrombus, consistent with vasospasm. This ultimately resulted in ischemia, gangrene and osteomyelitis of the toe, necessitating amputation. The patient was subsequently treated with hydroxyurea for ET. This unusual presentation underscores the importance of a broad differential in cases when conventional treatments fail to yield improvement., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Solitary fibrous tumours (SFTs) and chronic myeloid leukaemia (CML) are both uncommon neoplasms with distinct chromosomal aberrations and clinical presentations. Here, we present a case of a male in his late 50s with a history of intracranial SFT who presented 8 years after subtotal resection and adjuvant radiotherapy with splenic infarcts, a white blood cell of 83 000 cells/mL, and liver masses. He was treated with dasatinib for CML and temozolomide/bevacizumab for SFT. This case emphasises the benefits of broad differential diagnoses that include multiple concurrent disease processes when confronted with unusual presentations. It highlights the need for interdisciplinary efforts and personalised approaches when managing patients with multiple primary malignancies., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Rosai-Dorfman disease (RDD) is a rare myeloproliferative disorder involving histiocytes, with an incidence of 1:200 000 and approximately 100 new cases diagnosed annually in the USA. The condition presents a diverse range of clinical manifestations, and early recognition and treatment generally result in a favourable prognosis. However, diagnosing RDD poses challenges due to its rarity. The clinical management of RDD lacks a consensus, further complicating its diagnostic and therapeutic approach. We present a case of a man in his late 50s with RDD who experienced worsening cytopenias, including severe neutropenia and respiratory distress, despite an initial positive response to steroids, rituximab and lenalidomide. Genetic testing revealed mutations in POLE, KRAS (G13C), NDE1 and EZH2, suggesting potential new therapeutic targets. Sirolimus was initiated and led to complete radiological remission of the disease. This case adds strength to the growing evidence supporting the efficacy of sirolimus in refractory RDD cases., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive disorder characterised by the clinical triad of megaloblastic anaemia, sensorineural hearing loss and diabetes mellitus (DM) in young patients. We present a case of a young man with type 1 DM who presented with pancytopenia of unclear aetiology, initially attributed to a COVID-19 infection. After obtaining a bone marrow biopsy and pursuing genetic testing, two pathogenic variants of the SLC19A2 gene consistent with TRMA were discovered in this patient. Treatment with 100 mg of thiamine oral supplementation daily led to the complete resolution of his pancytopenia. It is important to consider a genetic cause of pancytopenia in a young person. Early recognition and diagnosis of TRMA can be life-altering given early treatment can reduce insulin requirements and resolve anaemia., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Haemophagocytic lymphohistiocytosis (HLH) is a syndrome with an abnormal activation of the immune system and is associated with a high mortality even with treatment. We present a case of a woman in her mid-50s who developed HLH triggered by miliary tuberculosis (TB) while receiving a tumour necrosis factor alpha inhibitor.The patient was admitted with a high fever and respiratory pain. Her condition deteriorated despite empirical treatment. Diagnosis of HLH was established based on clinical presentation, H-score and HLH-04 criteria. Concurrently, miliary TB was identified as the trigger. She was treated with anti-tuberculous therapy and HLH-directed treatment with dexamethasone, etoposide and anakinra. Initial improvement was observed, leading to the withholding of HLH-orientated treatment. However, several relapses occurred, necessitating prolonged HLH treatment.A literature review corroborated the importance of combined anti-tuberculous and immunosuppressive therapy for managing HLH. This case underscores the necessity of timely and comprehensive management of HLH-oriented treatment., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive haematological malignancy, typically characterised by cutaneous lesions and bone marrow involvement. We present a unique case of a woman in her 70s, initially seen for a spontaneous swelling on her left external ear resembling a haematoma, which recurred after initial treatment, triggering further evaluation.Diagnostic challenges arose as the patient displayed positive markers for Myeloperoxidase (MPO) (p-ANCA), suggesting vasculitis. Dermatology considered various differential diagnoses, but imaging and tests ruled out significant pathology. Steroid treatment led to improvement, but coincided with a surge in white cell count (WCC), prompting an urgent haematological review.Subsequent investigations, including a punch biopsy of the external ear and a bone marrow biopsy revealed BPDCN concurrent with chronic myelomonocytic leukaemia. This case highlights the challenging diagnostic journey, emphasising the need for multidisciplinary collaboration and the potential for unique BPDCN presentations, expanding our understanding of this malignancy., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Bone marrow biopsy (BMB) is a routinely performed procedure, with the preferred site being the posterior superior iliac crest. Uncommonly, it may be complicated by haemorrhagic complications, especially in patients with coagulopathy. Here, we present a case of pelvic haematoma following a BMB due to the injury of the right internal iliac artery. Endovascular embolisation was performed on an urgent basis to manage this complication. The bleeding stopped following the embolisation., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

The t(1;19) (q23;p13) TCF3::PBX1 is a well-described, recurring chromosomal abnormality in B-acute lymphoblastic leukaemia (B-ALL) that has historically been associated with a worse prognosis in paediatric patients. Gene expression profiling has demonstrated that TCF3::PBX1 results in a distinct subtype of B-ALL, leading to its recognition in the most recent WHO and ICC classifications. Though initially believed to be a poor prognostic sign in the adult population, emerging evidence suggests its presence may instead be intermediate or even favourable in B-ALL. However, adults with TCF3::PBX1 are typically younger and often qualify for treatment with paediatric-inspired regimens. Thus, the prognostic significance in this population remains unclear. This translocation appears to be very rare in older adults with B-ALL and its predictive and prognostic nature in this population is unknown. Herein, we explore a case of this translocation occurring in a patient in her 70s. She initially presented to the emergency department with abdominal pain and thrombocytopenia and was subsequently diagnosed with B-ALL. In addition to t(1;19) (q23;p13), a pathologic mutation in the CBL gene was identified. CBL mutations have been implicated in cancer progression and are mostly described in paediatric B - ALL. She was treated with modified Ph-negative EWALL induction (Vincristine, Idarubicin, dexamethasone) and achieved a complete remission. However, she subsequently experienced an early relapse and was refractory to targeted therapy with blinatumomab. After treatment with inotuzumab ozogamicin, she achieved a second complete remission. Unfortunately, she then suffered a central nervous system (CNS) relapse and passed away from complications of her disease. This case serves as an example of the heterogeneous nature of B-ALL. It demonstrates that patients with ostensibly favourable prognostic factors may experience poor response rates to traditional chemotherapy as well as targeted salvage agents. It also illustrates the challenges of treating B-ALL in the elderly population., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Multidrug therapy has significantly reduced the global burden of Hansen's disease; however, complications from long-term treatment persist. A male resident of southern Kentucky, in his 30s and of Micronesian descent, presented with worsening abdominal pain associated with anorexia, fatigue, functional decline and occasional haemoptysis. He was compliant with multidrug therapy for leprosy. Laboratory investigations revealed pancytopenia. He was initially treated under a sepsis protocol and later switched to high-dose steroids due to a suspected immune reaction from missed corticosteroid doses. Despite aggressive treatment for refractory pancytopenia, the patient's condition deteriorated, and he passed away from cardiac arrest. Posthumous bone marrow biopsy revealed haemophagocytic lymphohistiocytosis secondary to disseminated histoplasmosis with bone marrow infiltration. This case highlights the importance of proactive fungal screening in immunocompromised leprosy patients, particularly in endemic regions, as early detection and timely intervention can prevent severe complications., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Sarcoidosis is an inflammatory disease characterised by non-caseating granulomas that can affect any organ, although lung involvement is the most common. It is rare to find sarcoidosis isolated to extrapulmonary organs. We describe a case of extrapulmonary sarcoidosis with involvement of the liver in a man in his late 40s. His initial clinical history and investigations were more consistent with a diagnosis of lymphoma until a liver biopsy was performed revealing non-caseating granulomas more suggestive of a diagnosis of sarcoidosis. This patient had a history of young-onset ischaemic heart disease (IHD). We discuss the possible links between sarcoidosis, an inflammatory condition, and IHD, as well as the challenges to treating such patients with concurrent metabolic syndrome. This case also highlights the heterogeneous nature of sarcoidosis, with the diagnosis being important as prompt treatment can prevent complications of end-stage liver disease, including portal hypertension and cirrhosis., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

We present a case of a woman in her 20s with inadequately treated systemic lupus erythematosus (SLE). She presented with heavy menstrual bleeding, along with nasal and gum bleeding worsening over 3 months. There was no bleeding history in her family, childhood, dental procedures or childbirth. Evaluation ruled out structural causes, revealing prolonged activated partial thromboplastin time (incomplete correction on mixing studies), normal prothrombin time, moderate thrombocytopenia, and lupus anticoagulant and anti-phosphatidylserine/prothrombin antibody positivity twice, 12 weeks apart. Further evaluation showed very low von Willebrand factor (vWF) levels (<5%). She was treated with pulse methylprednisolone for 3 days, resulting in complete symptom resolution and improvement in vWF levels to 130%. The absence of bleeding history, family history, presence of very low vWF and its response to corticosteroids led to a diagnosis of acquired vWF syndrome as the cause of mucosal bleeding in an SLE patient with concomitant positive antiphospholipid antibody. She was discharged on hydroxychloroquine, mycophenolate mofetil and tapering oral corticosteroids., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

We report a rare case of a patient with Janus kinase 2-positive myelofibrosis on ruxolitinib, presenting with indolent pneumonia and cavitary lung lesions. Initial transthoracic biopsy was non-specific, but thoracoscopic biopsy revealed necrotising granulomatous disease caused by Pneumocystis jirovecii pneumonia (PJP). The patient, initially treated with trimethoprim-sulfamethoxazole, was switched to atovaquone due to gastrointestinal intolerance. Given the patient's immunosuppression and extensive cavitary lesions, an extended course of atovaquone was administered, guided by serial imaging, resulting in clinical and radiological improvement. Unfortunately, the patient later passed away from a severe SARS-CoV-2 infection before complete radiographic resolution was observed. This case highlights the importance of recognising atypical PJP presentations causing granulomatous disease in immunosuppressed patients. While rare, documenting such cases may improve diagnosis using less invasive methods and help determine optimal treatment durations for resolution of these atypical infections., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

T-cell large granular lymphocytic (T-LGL) leukaemia is frequently associated with an autoimmune phenomenon; approximately one-third of patients have rheumatoid arthritis (RA). Intriguingly, one-third of patients with rheumatoid arthritis exhibit clonal T-cell patterns. Here, we present a patient with RA undergoing evaluation for neutropenia and splenomegaly who was later diagnosed with T-LGL leukaemia., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

We report the case of a man in his 50s who developed acute respiratory distress syndrome and right heart failure, necessitating intubation and initiation of inhaled nitric oxide (iNO) to decrease right ventricular afterload and improve the right heart function. The course was complicated by acute anaemia, with a diagnostic workup revealing methaemoglobinaemia and evidence of oxidative haemolysis indicated by blister and bite cells on peripheral blood film. The patient received conservative management, including successive red blood cell transfusion and gradual iNO weaning due to suspected glucose-6-phosphate dehydrogenase (G6PD) deficiency. Discontinuation of iNO led to the resolution of both oxidative haemolysis and methaemoglobinaemia. Subsequent enzymatic assay, conducted 4 months later, confirmed G6PD deficiency. This case highlights a rare instance of concurrent methaemoglobinaemia and oxidative haemolytic anaemia following iNO in a patient with underlying G6PD deficiency., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

We present a case of atraumatic splenic rupture secondary to Epstein-Barr virus (EBV) infection in a woman in her early 50s. The patient initially presented with sepsis secondary to pneumonia but then developed abdominal pain and distension. CT revealed splenic rupture with a significant perisplenic hematoma. Laboratory tests confirmed an EBV infection. Owing to frailty, she underwent fluoroscopy-guided splenic artery embolisation. This case highlights the rare risk of splenic rupture following EBV infection, even in the absence of typical symptoms of infectious mononucleosis., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

A woman in her 40s with no medical history presented on hospital day #0 with 3 days of epigastric pain, nausea, vomiting and bloody diarrhoea. Initial blood work demonstrated acute kidney injury with metabolic acidosis with an elevated anion gap, thrombocytopenia, an elevated lactate dehydrogenase, and an undetectable haptoglobin. She was quickly diagnosed with haemolytic uraemic syndrome from Shiga toxin-producing O157:H7 Escherichia coli Her microangiopathic haemolytic anaemia and renal failure progressively worsened and only improved after the initiation of eculizumab, a monoclonal antibody directed against complement component C5. We report a case of Shiga toxin-producing E. coli -haemolytic uraemia syndrome with a complement-mediated component., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

A woman in her 20s with no medical history was diagnosed with bulky stage II classic Hodgkin's lymphoma after an 8-week history of shortness of breath, cough and lethargy. A regimen of doxorubicin (Adriamycin), bleomycin, vinblastine and dacarbazine (ABVD) was commenced with six cycles planned. During the first cycle, the patient was profoundly hypertensive. She then suffered two self-terminating tonic-clonic seizures.Examination and investigations diagnosed posterior reversible encephalopathy syndrome (PRES), which resolved completely in 11 days with strict blood pressure control and withholding chemotherapy. Treatment was further complicated by anthracycline-induced cardiomyopathy, requiring a switch in regimen to gemcitabine BVD.The patient made a full recovery from neurology and cardiology perspectives and completed six cycles of chemotherapy, achieving a complete metabolic response by the tumour. We illustrate the case, describe differential diagnoses and management of PRES, its association with chemotherapy and the successful chemotherapy rechallenge., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Clozapine is the most effective medication for the management of treatment-resistant schizophrenia and schizoaffective disorder, and its discontinuation can pose significant challenges in treatment. We present a patient with a diagnosis of schizoaffective disorder who was stable on clozapine for a decade until discontinuation due to thrombocytopenia. She experienced a relapse of her illness, presenting with psychotic and catatonic features with poor oral intake and physical health complications requiring a lengthy admission to the hospital. There was a poor response to alternative antipsychotics and a full course of electroconvulsive therapy. Intramuscular (IM) clozapine was initiated due to catatonia and refusal to accept oral medications. After receiving 10 doses of IM clozapine, she started accepting oral clozapine and made a full recovery within a few weeks. The low platelet count was persistent, and a bone marrow biopsy showed results consistent with immune thrombocytopenia being the cause of that low platelet count., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare disease first reported in 2020, most commonly seen in men aged 56-75 years old. Common clinical features include skin lesions (83.5%), fever (63.6%), relapsing chondritis (36.4%), venous thrombosis (34.7%) and lymph node enlargement (33.9%). The patient is a man in his 40s who presented with testicular and lower extremity pain, followed by a rash and bicytopenia. He was initiated on corticosteroids and sulfasalazine. He was found to have mediastinal lymphadenopathy and underwent an endobronchial ultrasound and transbronchial needle aspiration followed by a video-assisted thoracic surgery biopsy which were unrevealing. Eventually, an ubiquitin-like modifier activating enzyme (UBA-1) gene analysis was performed that was consistent with VEXAS syndrome. Patients with VEXAS syndrome usually present with a red or violaceous rash and dyspnoea. Laboratory abnormalities include anaemia, elevated mean corpuscular volume, thrombocytopenia and elevated inflammatory markers. Diagnosis is based on the genetic mutation and associated symptoms. The treatment includes steroids and Janus kinase (JAK) inhibitors, specifically ruxolitinib., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Vitamin K is an essential dietary cofactor required for the synthesis of active forms of vitamin K-dependent procoagulant proteins. Vitamin K deficiency, particularly late-onset deficiency occurring between 1 week and 6 months of age, can cause a life-threatening bleeding disorder. An exclusively breastfed, full-term, 6-week-old infant male presented with severe haemorrhagic shock and multi-system organ failure related to caregiver refusal of intramuscular vitamin K after birth. Coagulation studies were normalised within 8 hours of intramuscular vitamin K administration. An increasing number of caregivers are refusing intramuscular vitamin K which has led to a rise in the incidence of vitamin K deficiency bleeding. Health policy organisations around the world emphasise the benefits of intramuscular vitamin K and risks of refusal, particularly in exclusively breastfed infants who are at higher risk due to low vitamin K levels in breast milk. This case highlights the multi-system severity of this life-threatening yet preventable disorder., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Cerebrovascular accidents are uncommon but devastating complications of sickle cell disease (SCD). Notably, cerebral sinovenous thrombosis is rarely reported in SCD and poses a therapeutic dilemma regarding anticoagulation. Herein, we describe a challenging case of a patient with sickle thalassaemia admitted to the hospital with recurrent haemorrhagic infarct secondary to cerebral sinus thrombosis. The patient was successfully treated with anticoagulation without neurological deficit. No embolic or other thrombotic aetiology was found, and the stroke was presumed due to sickle cell disease, leading to a hypercoagulable state. Our case report highlights the value of early recognition of this rare but potentially life-threatening condition in SCD, considers other options of anticoagulation therapy and emphasises the importance of close multidisciplinary follow-up particularly post hospital discharge., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Competing Interests: Competing interests: None declared.

This case report presents the diagnostic journey of a man in his mid-70s who experienced shortness of breath, cough, recurrent episodes of fever, weight loss, pruritic erythroderma, uveitis and macrocytic anaemia. The initial diagnosis of cryptogenic organising pneumonia was made based on antibiotic refractory infiltrates seen in the lung CT scan. The patient initially responded favourably to immunosuppression but experienced a recurrence of symptoms when the corticosteroid dose was tapered. Despite ongoing systemic inflammation and refractory symptoms, it took nearly a year to establish the diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic) syndrome. This case highlights the challenges in diagnosing and managing VEXAS syndrome due to its recent discovery and limited awareness in the medical community, as well as the need to consider this syndrome as a rare differential diagnosis of therapy-refractory pulmonary infiltrates., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

A previously healthy male patient presented with relapsing serous effusions affecting the pleural, pericardial and peritoneal membranes, along with thrombocytopaenia, following infection with COVID-19. An extensive workup was performed to rule out potential causes of polyserositis, including an infectious disease screen, autoantibody testing and imaging; however, no clear other cause was found. He exhibited a robust response to high-dose corticosteroid therapy but experienced several recurrences on tapering of treatment. His clinical course and treatment response were most suggestive of an autoimmune or autoinflammatory cause of polyserositis, though without confirmation of a specific underlying diagnosis. This report builds on existing literature on a possible link between COVID-19 and polyserositis., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

The brown recluse spider ( Loxosceles reclusa ) is endemic to the southcentral Midwest and the Southern United States. A bite from a brown recluse spider may result in symptoms that range from local skin necrosis to systemic complications such as acute haemolytic anaemia, disseminated intravascular coagulopathy, rhabdomyolysis and death. Although rare, systemic loxoscelism is a clinical diagnosis of exclusion that should be considered in a patient with acute autoimmune haemolytic anaemia. We describe a case of a young man with autoimmune haemolytic anaemia secondary to systemic loxoscelism successfully treated with intravenous immunoglobulin and steroids., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)