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Cylindroma is a benign adnexal tumour that occurs as a solitary pink–red coloured nodule and is usually found on the scalp or neck. There have been few cases reported of these lesions being found on the genitalia. They can be found in single or in multiple form, with the latter usually inherited in an autosomal dominant pattern. CYLD lysine 63 deubiquitinase (CYLD) cutaneous syndrome, also known as Brooke-Spiegler syndrome, is a genetic condition characterized by the growth of multiple benign adnexal skin tumours. The most common tumours are cylindromas, spiradenomas and trichoepitheliomas. The cause of this syndrome can be attributed to mutations in the CYLD tumour suppressor gene. If both copies of this gene are mutated, the cell undergoes uncontrolled cell proliferation and division resulting in the formation of a tumour. Here, we present an unusual case of a female patient presenting with a large cylindroma over the mons pubis.

Hirschprung’s disease co-occurs with multiple endocrine neoplasia type 2A infrequently but at a higher rate with certain RET mutations. We present a case of a patient evaluated for an adrenal incidentaloma with a history of familial Hirschprung’s. Our patient was found to have synchronous pheochromocytoma and medullary thyroid carcinoma illustrating the importance of genetic testing in these patients to determine appropriate screening for endocrine tumors.

Few groups of aggressive non-Hodgkin’s lymphomas (NHL) that are refractory to standard chemotherapy are rarely reported. Primary CD20 negative diffuse large B cell lymphoma (DLBCL) without human immunodeficiency virus infection is an uncommon presentation and this case report is challenging in terms of diagnosis and treatment as well.

Non-bacterial thrombotic endocarditis (NBTE) typically affects patients with underlying adenocarcinoma, often of pancreatic origin. If untreated, it can lead to serious morbidity and mortality, including recurrent ischaemic stroke. NBTE is frequently missed or confused with infective endocarditis, leading to inappropriate management. We present the case of a 54-year-old male with newly diagnosed pancreatic malignancy (CA19–9 >120 000) who suffered recurrent deep-vein-thromboses and multiple ischaemic strokes despite full anticoagulation therapy. Transoesophageal echocardiography was correctly performed, but only after a second stroke was NBTE considered. We recommend early clinical suspicion and investigation for NBTE in patients with known or suspected malignancy presenting with neurological symptoms consistent with stroke. Initial calculations indicate this could also be cost-effective. Further, the patient’s significantly elevated tumour-markers and NBTE-severity raise the possibility of a link; if further research established a reliable relationship, routine surveillance of high-risk malignancies could identify patients who might benefit from earlier echocardiography and anticoagulation management.

Dyskeratosis congenita (DC) is an inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Non-cutaneous abnormalities (dental, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal) have also been reported. Bone marrow failure (BMF) is the main cause of early mortality, with an additional predisposition to malignancy. DC results from an anomalous progressive shortening of telomeres resulting in DNA replication problems inducing replicative senescence. Men are more affected than women are and X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. There are no targeted therapies for DC. Patients treated with androgens had a hematological response. We herein describe case of a 32-year-old man, presented with several characteristic systemic features of this condition, including the classic triad of lesions, dysplastic bone marrow, epiphora and liver cirrhosis with grade I esophageal varices. Therefore, a prophylactic propranolol was started in additional to danazol. Three-week later, the patient had subsequent increases in his platelet, red cell and white cell counts.

Metastases to the pancreas are rare in general and scares in cases of lungs primary lesion. They are discovered incidentally in most cases. Data on their incidence, diagnosis, prognosis and management remain insufficient. The discovery is usually made at an advanced stage of lung cancer with the presence of metastases to other organs. We reported the case of a patient undergoing oncology follow-up for lung adenocarcinoma with discovery of adrenal gland metastases and a solitary pancreatic metastatic mass. His management remains palliative chemotherapy. Surgical treatment is not yet codified in these cases and remains at the discretion of the multidisciplinary oncology teams.

Sepsis has a high mortality rate; thus, in the intensive care unit, early diagnosis and adjunctive treatments are crucial. However, generally, most patients with sepsis from rural area initially visit the emergency department at a rural hospital and are managed in general medical wards in Japan. Here we report on an 81-year-old Japanese female manifesting septic shock caused by the upper urinary tract infection of extended-spectrum beta-lactamase-producing Escherichia coli secondary to the left ureter obstruction by the urothelial carcinoma. Broad-spectrum antibiotics were administered. Although critical for the source control of infection, drainage of the ureteropelvic junction could not be performed immediately because of catecholamine-resistant hypotension. Hence, we administered polymyxin B-immobilized fiber column direct hemoperfusion, followed by low-dose hydrocortisone administration. After 8 hours of infusion, she recovered from the septic shock and successfully underwent emergency percutaneous nephrostomy. This presented strategy may provide a new resolution of catecholamine-resistant patients in urosepsis.

Hepatoid adenocarcinoma is an extremely aggressive special subtype of gastric tumors. It can be lethal as no standard treatment options for this type of gastric cancer exist. Here, we describe a very rare case of a young female on her 21st week of pregnancy who was diagnosed with stage IV hepatoid adenocarcinoma of the stomach with elevated α fetoprotein (AFP) level. Gene mutation analysis performed by next-generation sequencing identified somatic mutations in the PIK3CA gene. Despite the treatment, patient died 2 months after the initial disease presentation. To our best knowledge, this case represents the first report of pregnancy-associated hepatoid gastric adenocarcinoma with the PIK3CA gene mutations, which can provide further clues for the understanding of molecular features of this type of tumor that can reflect biological behavior and may lead to further effective treatment options.

Breast cancer arising from fibroadenoma (FA) is rare, in which almost all reported cases are human epidermal growth factor receptor 2 (HER2)-negative. This is the first report to describe a case of HER2-positive breast cancer arising from FA that was treated with chemotherapy plus anti-HER2 therapy. In this early case, upfront surgery outcomes guided the selection of appropriate systemic therapy. A 31-year-old woman previously diagnosed with FA experienced tumor growth. Core needle biopsy and imaging studies confirmed a diagnosis of stage IIA HER2-positive invasive ductal carcinoma (IDC) with no evidence of lymph node metastasis (cT2N0M0). Breast-conserving surgery was performed. Pathological diagnosis revealed stage IA IDC with a predominant intraductal component (pT1aN0M0), arising from FA. In conclusion, we encountered an extremely rare case of HER2-positive breast cancer arising from FA in which pathological infiltration was difficult to predict based on preoperative imaging.

This case is the first document to describe a patient receiving anti-programmed cell death 1 (PD-1) antibodies which showed cranial dura matter involvement. According to the increasing use of anti-PD-1 monoclonal antibodies, adverse effects can occur in several organs since its ligand PD-L1 and PD-L2 are expressed in a wide variety of tissues. The estimated rate of neurological complications is 1–4.2% of patients, and neuromuscular disorders are the most common. Adverse effects on the central nervous system including encephalitis are less frequent. Here, a patient receiving anti-PD-1 antibodies showed cranial dura matter involvement, and the dura enhancement on MRI was resolved by withdrawal of the treatment with anti-PD-1 antibodies only.

ATTR-CA is an under-reported cause of congestive heart failure (CHF) and cardiac arrhythmias. Heightened clinical suspicion along with a multimodal investigative approach is often required in diagnosing this potentially fatal condition. Tafamidis and inotersen have shown promising results in terms of progression-free survival by ameliorating CHF symptoms and peripheral neuropathies in clinical trials. In this case series of five patients, we present three wild-type cardiac amyloidosis (ATTRwt-CA), one familial cardiac amyloidosis (ATTRm-CA) and one primary cardiac (AL-CA). The diagnostic modality was different for each patient. ATTRwt-CA, ATTRm-CA and AL-CA patients received tafamidis, inotersen and chemotherapy with bone marrow stem-cell transplantation, respectively.

Cerebral arteriovenous malformations (AVMs) are a vascular anomaly consisting of a bundle of direct connection of arteries and veins. AVMs clinical expression ranges from complete asymptomatic, and thus incidentally found, to life threatening with rupturing and bleeding. In this wide spectrum, osteolysis is considered as a rare complication of interosseous AVMs, and only few cases of mandible and maxilla osteolysis have been reported. We present, herein, a case of an intracranial AVM, which has caused in the course of the time an osteolysis of the dens and axis.

Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology that affects several organs. The fatal type of Langerhans cell histiocytosis is called Letterer Siwe disease (LSD) which is multisystem with a poor prognosis. Herein, we report a 20-month-old male who was admitted for recurrent pulmonary infections at the age of 10 months. Diagnostic workup revealed a Letterer-Siwe disease. The patient was treated with a good response.

Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are a first-line treatment for patients with nonsmall-cell lung cancer harboring EGFR mutations. We report a 65-year-old Japanese woman with nonsmall-cell lung cancer taking an EGFR-TKI who visited the emergency department with acute nausea and vomiting. Imaging studies demonstrated an incarcerated diaphragmatic hernia. Urgent diagnostic surgery revealed a gap in the diaphragm acting as a hernial orifice, where a metastatic tumor was detected. We consider that regression of the diaphragmatic metastasis by EGFR-TKI therapy resulted in perforation of the diaphragm, causing the diaphragmatic hernia. Gastrointestinal adverse events, e.g. nausea, vomiting and diarrhea, are common during EGFR-TKI treatment. However, this case suggests that in patients with diaphragmatic metastasis, we should consider the rare possibility of diaphragmatic perforation and a subsequent hernia.

A 56-year-old female patient with upper lobe neoplasia of the right lung and superior vena cava syndrome. The patient complained about the taste of the medications during the chemotherapy sessions. Interventional radiology diagnosed cava-bronchial fistula when it injected contrast into the inferior and superior vena cava.

Minimal deviation adenocarcinoma (MDA) of the cervix otherwise known as adenoma malignum is a rare variation of cervical adenocarcinoma. Radiological evaluation plays a great role to ensure an early diagnosis. Here, we report a 48-year-old woman who was presented with a mucoid vaginal discharge 10 years after a supracervical hysterectomy. Despite normal biopsy and cytology, magnetic resonance imaging showed a large cervix and multiple cervical cysts that considered adenoma malignum as a differential diagnosis. She underwent surgery and the pathology confirmed the adenoma malignum. In conclusion, radiologists, as well as gynecologists, and also pathologists may consider MDA among the differential diagnosis in patients with a vaginal discharge and multicysts in the cervix even after hysterectomy despite normal cytology and biopsy.

Desmoid tumour of the colon is a very rare and aggressive type of intra-abdominal desmoid fibromatosis. Patients can present with a range of symptoms from a mild chronic abdominal pain to those of an acute abdomen. We present a rare case of abdominal fibromatosis that presented as a rapidly growing mass with free intraperitoneal gas. Intraoperatively however, we found a large tumour arising from the wall of the transverse colon and local necrosis. No bowel perforation was noted. The tumour was removed with a wide resection of transverse colon’s wall instead of colectomy. The histopathology reported benign fibromatosis and excluded malignancy.

Esophageal adenocarcinoma historically is an aggressive cancer with poor long-term survival. Ocular metastasis secondary to gastrointestinal malignancy is rare. In managing patients with ocular metastasis, quality of life (specifically vision preservation) is one of the most important factors patients and providers consider when deciding on a treatment regimen. Anti-programmed cell death-1 (PD-1) and PD-1 ligand (PD-L1) inhibitors such as pembrolizumab have shown promising results as second-line therapy for patient with metastatic malignancy. We describe a novel case of a functionally monocular patient with known metastatic esophageal adenocarcinoma who developed poor vision and a large choroidal lesion in his better seeing eye. The lesion regressed and vision restored to 20/20 after treatments with pembrolizumab in this case report.

We report the rare two cases of cardiac tamponade due to ruptured cystic teratoma. In both cases, a chest computed tomography scan showed large cystic mass with large amount of pericardial effusion. Transthoracic echocardiogram revealed cardiac tamponade physiology. En bloc resection of the mass was performed and pathologic examination showed mature cystic teratoma. The postoperative course of patients was uneventful. A cystic mediastinal teratoma should be considered in the differential diagnosis of pericardial effusion.

Aphantasia, the loss of mental imagery, is a rare disorder and even more infrequent when acquired. No previous cases have been identified that were caused by transplant-related treatment. We describe a case of acquired aphantasia in a 62-year-old male with refractory IgG kappa multiple myeloma after receiving an autologous stem cell transplant (ASCT) following high-dose melphalan with a complicated hospital admission. The etiology of aphantasia remains unidentified, but we provide viable explanations to include direct effects from ASCT treatment and indirect effects from transplant-related complications.

A 60-year-old man presented to our hospital because of febrile neutropenia due to chemotherapy for his metastasized colon cancer. During hospital stay, polyuria and polydipsia were noted. He reported that his thirst had become increasingly intolerable over the last weeks. Diabetes mellitus was diagnosed. Polyuria and polydipsia persisted despite euglycemia under insulin treatment. Because of thirst and high urine volumes during the night, diabetes insipidus was suspected. Endocrinological work up revealed complete panhypopituitarism with impairment of all anterior and posterior axes. After substitution with hydrocortisone, levothyroxine and desmopressin symptoms resolved. MRI of the brain revealed one round, contrast enhancing lesion in the pituitary stalk and one in the pineal gland. Because of extensive extracerebral metastasis and poor performance status, the patient opted for radiation therapy only. He died 2.5 months later due to non-cerebral manifestations of his cancer before cerebral radiotherapy could be initiated.

Tenosynovial chondromatosis (TC) is a rare progressive benign tumor from the synovial lining of tendon sheath. The TC mostly affects males between the ages 30 to 50 years old at the ventral side of wrist. There are two different forms of TC that have been proposed in previous studies: an idiopathic cause (primary TC) and a joint related diseases cause (secondary TC). Even though trauma has been written to be a common reason for TC, a case of a secondary TC affecting the dorsal wrist following a triquetrum fracture has never been written before. The aim of this report is to present a rare case of a solitary post-traumatic TC at the dorsal wrist following a triquetrum fracture. We describe the clinical presentation, imaging modalities, histopathological and treatment challenges to manage this difficult lesion.

Liver is the most common site for metastasis from colorectal cancer (CRC). Non-surgical treatment options for oligometastatic CRC confined to the liver which represents an intermediate state in the metastatic cascade are fast expanding. Currently, several liver-directed local therapeutic options are available, such as hepatic arterial infusion (HAI) therapy, radio-frequency ablation (RFA), transarterial chemoembolization (TACE), stereotactic body radiotherapy and high dose rate brachytherapy (HDRBT). Many factors such as patient’s fitness, liver function (LF), tumour size, location of the tumour in the liver and scheduling of systemic therapy need to be considered when selecting patients for surgery or local liver-directed therapy. This case report illustrates a successful local treatment with staged HDRBT for a large and unresectable, liver only oligometastatic disease from CRC. This patient underwent 4 cycles of chemotherapy (FOLFOX 4) followed by primary tumour resection and first stage of HDRBT to liver for a residual 14 cm tumour after the chemotherapy. After completing a further 4 cycles of chemotherapy with the same regimen, the tumour remained stable at 8 cm. She underwent a second stage of HDRBT to the same lesion and a repeat PET-CT scan done 8 weeks after the second HDRBT showed complete metabolic response. To our knowledge, this is the largest CRC metastatic liver lesion that has been successfully treated with HDRB.

Hypereosinophilia is defined as persistent eosinophilia (>1.5 × 109/L). Hypereosinophilic syndrome (HES) is a term used to describe a group of disorders characterized by sustained hypereosinophilia associated with end-organ damage. Based on underlying molecular mechanism of eosinophilia, there are different subtypes of HES. Diagnosis of HES subtype can be challenging, especially in the absence of overt lymphoid/myeloid neoplasms or discernable secondary causes. Long-term outpatient follow-up with periodic complete blood count and repeated bone marrow biopsy may be needed to monitor disease activity. Somatic signal transducer and activation transcription 5b (STAT5b) N642H mutation was recently found to be associated with myeloid neoplasms with eosinophilia. We report a case of HES who presented with pulmonary embolism and acute eosinophilic pneumonia, found to have recurrent STAT5b N642H mutation by next-generation sequencing, suggesting possible underlying myeloid neoplasm.

Immune checkpoint inhibitors (ICIs) are widely used in both monotherapy and combination chemotherapy for various types of cancers. Nivolumab is the most popular among ICIs, and the number of adapted malignant diseases for nivolumab is increasing. Bronchoesophageal fistula formation is a serious complication of the treatment for esophageal or lung cancer. However, the development of bronchoesophageal fistula as a complication of ICIs is obscure. A 59-year-old man who was diagnosed with carcinoma of unknown primary with a subgroup of lung squamous cell carcinoma had bronchoesophageal fistula formation after three cycles of nivolumab as the fourth line treatment. Before the initiation of nivolumab, he had received two esophageal stents and an angiogenesis inhibitor. These are known risk factors for fistula formation. This is a rare case showing that nivolumab monotherapy might induce bronchoesophageal fistulae. Therefore, clinicians should be aware of the factors related to fistula formation when using ICIs.

Amphicrine carcinoma (AmC) is a unique epithelial tumor displaying exocrine and endocrine features in the same cell. It shows an adenocarcinoma-like cellular form and has endocrine granules. There are few reports describing chemotherapy for AmC. Here, we describe a case with metastatic AmC from the rectum that was treated with FOLFOXIRI chemotherapy. A 64-year-old man was diagnosed with a submucosal lesion on the scar produced after an endoscopic mucosal resection, which had been performed for adenocarcinoma of the rectum 2 years before. The endoscopic submucosal dissection revealed AmC. The abdominoperineal resection including lymph nodes dissection was performed. Thereafter, computed tomography showed multiple liver metastases, and FOLFOXIRI was administered. The best overall response was partial response, and progression-free survival was 8.7 months. After 16.0 months since first-line chemotherapy the patient died. We can therefore conclude that FOLFOXIRI may be effective for AmC of the rectum.

Primary cutaneous B-cell lymphoma is a very rare entity. Skin lesions mainly occur on the lower extremities. Sheets of immunoblasts and centroblasts are characteristic findings at histologic examination. This case report highlights diagnostic and therapeutic strategies for primary cutaneous B-Cell lymphoma-leg type.

Phyllodes tumours (PTs) are rare fibroepithelial tumours of the breast with incidence accounting for

The pathogenesis of metaplastic breast carcinoma (MBC) is still debatable and it has been hypothesized that MBC develops as a result of transformation of epithelial cells into mesenchymal cells along with formation of a favorable tumor microenvironment. This favorable tumor microenvironment helps the transformed cells to undergo further mutations and clonal expansion. Case 1 was a 42-year old female with a 1-year history of a right breast fungating mass which was histologically confirmed to be matrix-producing type of MBC. Case 2 was a 47-year old female who presented with a recurrent left breast mass. Histologically, the tumor was confirmed to be carcinosarcomatous type of MBC. MBC is a rare, heterogeneous tumor with poor prognosis due to its aggressive behavior. It is more likely to mimic other benign breast conditions, therefore contributing to delay of diagnosis as it was for both of our patients herein presented.

We report a case of a 35-year-old, non-HIV-infected male diagnosed simultaneously with a disseminated form of Kaposi’s sarcoma (KS; skin, stomach and colon are involved) and Hodgkin’s lymphoma. There is no sign of changes in the immune status, but three herpes viruses were detected in the patient’s blood (EBV, HHV6 and HHV8). He received ABVD chemotherapy and achieved complete metabolic remission for Hodgkin’s lymphoma. Moreover, the signs of the disseminated KS were resolved. Our observations indicate that a combination of distinct types of viruses may play an important role in triggering the development of angio- and lymphoproliferative disorders in the same person. In addition, treatment with chemotherapy cycles, which included doxorubicin and vinblastine, led to the stable remission of both diseases.

Acute Promyelocytic Leukaemia (APML) is a subtype of Acute Myeloid Leukaemia (AML), responsible for around 10% of cases of the disease in adults. Extra medullary disease (EMD) occurs infrequently in APML, but where EMD does occur, the central nervous system is one of the most commonly infiltrated sites. Our case describes a man in his 40s undergoing post-therapy surveillance for APML who presented to follow-up clinic with a headache, which was ultimately found to be caused by a tumour comprised of APML cells. His case presented a diagnostic challenge due to the benign appearances of the lesion on initial computed tomography brain imaging and the non-diagnostic cerebrospinal fluid analysis. The diagnostic difficulties described in our case emphasizes that clinicians working with APML patients must approach new neurological symptoms with a high degree of suspicion to prevent diagnostic delay.

A 69-year-old male presented with early stage non-small cell lung cancer in 2016. The tumor was resected; however, the patient experienced recurrence 2 years later and subsequently received paclitaxel/carboplatin concurrently with radiotherapy. Within weeks of completing this treatment, he developed a symptomatic pancoast tumor secondary to disease progression and commenced second line nivolumab. Following the second dose of nivolumab, he developed acute unilateral right hearing loss. He commenced intravenous methylprednisolone followed by a slow taper of oral prednisolone. With steroids, he noted a gradual improvement in hearing, confirmed by audiology. Restaging imaging post-nivolumab demonstrated a complete metabolic response. Two prior cases have reported bilateral sensorineural hearing loss post-immune checkpoint inhibitor (ICI). We postulate the hearing impairment relates to the development of autoimmune inner ear disease. To our knowledge, this is the only case of a patient experiencing unilateral loss of hearing following an ICI.

Primary vaginal leiomyosarcoma (VLMS) is an extremely rare variant of primary vaginal cancers with very poor prognosis irrespective of the stage at presentation and the type of treatment received. It is easily recurrent and has a high propensity for haematogenous spread especially to the lungs. We present the case of a 34-year-old Para 1 + 1 (1 alive) woman with recurrent vaginal mass of 8 years duration after two surgical excisions without histological evaluation. She had examination under anaesthesia and a wide local excision of the vaginal mass. Histological examination of the mass revealed poorly differentiated VLMS with positive surgical margins and she was commenced on adjuvant chemo-radiation. Histological evaluation remains the hallmark for diagnosing rare malignancies like VLMS, which unfortunately is not a standard practice in some resource-constraint settings.

We report the case of a pregnant woman with recessive dystrophic epidermolysis bullosa. During pregnancy, she presents with a large, rapidly growing, tumor on her right forearm, whose biopsy revealed an invasive squamous cell carcinoma. Amputation by the middle third of the forearm was performed at 21 weeks of pregnancy, without intra- or post-operative complications. The remainder of pregnancy was unremarkable and, at 36 weeks, she gave birth to a healthy baby. One month after delivery, a large lymph node conglomerate was detected in the right axilla, highly suggestive of metastatic disease and complete lymph node dissection was then performed. Despite the prompt institution of chemotherapy, the patient died a few months later due to metastatic disease.

Intestinal obstruction is a common surgical emergency requiring urgent intervention. Small bowel obstruction secondary to intussusception is rarely encountered especially when inflammatory fibroid polyp (IFP) is the lead point. A 41-year-old gentleman with intestinal intussusception secondary to IFP presented to us with a classic symptom of intestinal obstruction. Computed tomography revealed a target or sausage-shaped soft tissue mass with a layering effect, which was confirmed by intraoperative findings. Histopathology was consistent with IFP and supported by immunoreactivity of CD34 and negative immunostaining for CD117. He recovered without any surgical complication or recurrence. Even intussusception can be managed via non-surgical technique in children; surgery is the mainstay of treatment in adults.