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A 31-year-old man with no predisposing factors and no history of chronic disease presented with a small painless lump over his anterior chest wall. On evaluation, it was found to be undifferentiated pleomorphic sarcoma. He underwent wide local excision of the tumour with clear margins, followed by adjuvant radiotherapy. At 6-month follow-up, the patient is clinically and radiologically disease free.

Lipomas of the oral cavity are uncommon. Here we report a case of 85 year old female presenting with a progressively increasing large growth in the oropharynx which was diagnosed as lipoma on histopathology. The clinicoradiological and histopathological findings are discussed. To the best of our knowledge; this is one of the largest intraoral lipoma reported in India till date. The present case highlights the need to be aware of intraoral lipomas which can present as large growths at this unusual site so as to avoid any unwarranted aggressive surgery.

Meningioma is the second most common type of intracranial brain tumor. Immunohistochemical techniques have shown prodigious results in the role of epidermal growth factor receptor variant III (EGFR vIII) in glioma and other cancers. However, the role of EGFR vIII in meningioma is still in question. This study attempt the confer searches for the position attained by EGFR vIII in progression and expression of meningioma. Immunohistochemistry technique showed that EGFR vIII is highly expressed in benign tumors as compared to the atypical meningioma with a highly significant p-value (p

We report a case who presented with facial swelling and breathlessness. Recent chest X-ray was suggestive of soft-tissue in the mediastinum. In view of the suspicion of mass being neoplastic, the patient was referred for positron emission tomography-computed tomography (PET-CT) scan. Whole-body fluorodeoxyglucose (FDG) PET-CT scan revealed a mildly FDG-avid large lobulated soft-tissue mass in the anterior mediastinum, seen to arising from right lobe of the thyroid gland, extending into the right hemithorax. Histopathological examination of the mass was compatible with adenomatous hyperplasia of the thyroid. Here, we report an unusual case of isolated single lobe hyperplasia of the thyroid gland, masquerading as an anterior mediastinal mass.

A 49-year-old gentleman presented with a 1-day history of painful deterioration of vision in his right eye. He was lifting heavy weights just before this visual loss. On examination, his vision was perception of light in that eye, with a medically uncontrollable high intraocular pressure and hyphaema almost completely filling his anterior chamber. An ultrasound performed suggested a working diagnosis of a Valsalva related ‘eight ball’ bleed. After an anterior chamber washout, he had another episode of bleeding three days later. A pars plana vitrectomy was performed and the sample obtained was sent off to the laboratory, revealing a choroidal melanoma. Following enucleation, the histology confirmed a large necrotic spindle cell melanoma, with a haemorrhagic background. Fortunately, no liver metastasis was found. Since his diagnosis 3 years ago, he continues to be followed up in an artificial eye clinic and has regular liver scans under the care of his oncologist.

CMV infection is one of the most common opportunistic infection in kidney transplant patients. If not treated, it is associated with increased mortality and graft loss. It can present as viremia or CMV disease in the form of CMV syndrome or tissue invasive CMV disease. The cutaneous presentation of CMV disease is a rare finding. Its identification is vital as cutaneous CMV infection can signal systemic infection and poor prognosis. In our case, 46-year-old male who was a post renal allograft recipient (RAR) presented as a protuberant growth over the medial side of the left ankle. On skin biopsy, nucleomegaly and inclusion bodies were seen in the epithelial cells. Immunohistochemistry was positive for CMV infection. Patient was treated with Ganciclovir, however, he succumbed to death because of severe sepsis due to secondary bacterial infection. Thus, CMV disease should always be kept in mind in immunocompromised patients like post RAR patients who present with cutaneous features like ulcerative lesions or fungating growth.

A 51-year-old male patient presented to us with an episode of generalized tonic-clonic seizure. Magnetic resonance imaging revealed a dural-based contrast-enhancing lesion in the right temporal lobe and another heterogeneously contrast-enhancing intra-axial lesion in the right insula adjacent to it. Histopathology confirmed it as a meningioma adjacent to an anaplastic oligodendroglioma. This is only the second such case reported in literature. Literature on “adjacent site” gliomas and meningioma was also reviewed.

Plasmacytomas occur as lesions in soft tissue or bone. Skull vault plasmacytomas are rare lesions comprising 0.7% of all plasmacytomas. Workup for myeloma must be done in such cases to rule out multiple myeloma. Here, we report a case of a 63-year-old female who presented to us with a large skull vault swelling which appeared to mimic a parasagittal meningioma on imaging. Histopathological imaging revealed it to be a plasmacytoma. A retrospective review of the radiology revealed the characteristic “mini-brain appearance” in our case. Literature on the subject is also reviewed.

A 28-year-old male patient presented to us with bilateral frontal hyperostosis associated with a small unilateral frontal intracranial meningioma. He underwent successful excision of the involved bone and repair of the large cranial defect using a titanium mesh. Histological examination revealed tumor infiltration of the overlying bone. Surgical challenges in the management of such a case are also discussed.

Mesenteric fibromatosis is a rare type of intra-abdominal fibromatosis with a predisposition to frequent recurrences. These tumors pose both diagnostic and therapeutic challenges and preoperatively mimic a variety of benign and malignant lesions. A multifocal lesion at this site is an underrecognized phenomenon and has rarely been reported in the literature. We herein report an unusual case of sporadic mesenteric fibromatosis forming multiple nodules and discuss the diagnostic challenges.

Coexistence of bilateral seminomas and adenomatoid tumor is rare. We encountered an interesting case of bilateral testicular seminomas along with a paratesticular nodule which was diagnosed as an adenomatoid tumor on histology. Although seminomas and adenomatoid tumor are frequent neoplasms, bilaterality and their coexistence have been rarely described and can pose diagnostic difficulties. Herein, we describe a case of a 53-year-old man who presented with bilateral testicular swellings which were diagnosed as bilateral seminomas with an adenomatoid tumor in the left paratesticular region on histopathology. The pathological findings of these coexistent tumors and the utility of immunohistochemistry in establishing a correct diagnosis in such scenarios are discussed.

Glioblastoma multiforme is the most fatal form of brain tumor, distinguished as an aggressive growth and assists annexing by cell relocation and mortification of extracellular matrix with average survival rate of approximately 6-14 months. The majority of patients suffer recurrence due to molecular heterogeneity of glioblastoma and deregulation of many signaling pathways involved in proliferation, survival, and apoptosis. However, genetic profiling of the tumor is shown to classify disease and therapy response. Although brain surgery is involved for tissue collection, repeated tumor biopsies may be necessary for accurate genotyping over the course of the disease. While the detection of circulating tumor DNA (ctDNA) in the blood of patients with primary brain tumors remains challenging, sequencing of ctDNA from the tissue may provide an alternative way to glioblastoma genotype with morbidity and lower cost. We therefore evaluated the depiction of the glioblastoma genome in tissue from 40 patients with glioblastoma. Here we demonstrated that tumor-derived DNA was detected in tissue from 40 patients and was associated with disease load and adverse effect. The genomic landscape of glioblastoma in the tissue included a broad spectrum of genetic alterations and directly resembled the genomes of tumor biopsies. Alterations that were found during tumorigenesis and mutations in the metabolic pathway gene isocitrate dehydrogenase (IDH1, IDH2) were shared in all matched ctDNA-positive tissue-tumor pairs, whereas growth factor receptor signaling pathways showed significant progress. The ability to monitor the evolution of the glioblastoma genome through an invasive technique could advance the clinical application and use of genotype-directed therapies for glioblastoma, one of the most aggressive human cancers. Citation Format: Rashmi Rana, Rajesh Acharya, Satnam Singh Chhabra, Sunila Jain. Clinical significance of liquid biopsy in glioblastoma patients through tissue analysis [abstract]. In: Proceedings of the AACR Special Conference on Advances in Liquid Biopsies; Jan 13-16, 2020; Miami, FL. Philadelphia (PA): AACR; Clin Cancer Res 2020;26(11_Suppl):Abstract nr A32.

Purtscher retinopathy is a hemorrhagic and vasoocclusive vasculopathy and was first described as a syndrome of sudden blindness associated with severe head trauma. We present a case report of an unusual case of this condition where this is unilateral and without direct head trauma. We also discuss the current literature about this rare condition.

Malignant fibrous histiocytoma (MFH) is a malignant mesenchymal tumor uncommonly seen in head and neck region and even rarer in maxillary sinus with less than thirty cases reported in literature. Microscopic diagnosis at this rare site may be challenging because of the spectrum of features, which frequently overlap with other benign and malignant tumors. We herein report a case of malignant fibrous histiocytoma of the maxillary sinus in a 40-year-old man who presented with epistaxis. The initial biopsy appeared benign whereas histopathology of wide surgical excision was consistent with MFH. In view of the deep location, the diagnosis may be missed on a small biopsy, which can appear deceptive leading to diagnostic errors. This case report highlights the histopathological difficulties and pitfalls of this tumor at this rare site.

Background: Isolated cryptococcal osteomyelitis of the spine is extremely uncommon; there have been only seven cases identified in literature. The majority were originally misdiagnosed as tuberculosis. Here, we present a patient with cryptococcal osteomyelitis of the thoracic spine with associated fungal retinal deposits. Case Description: A 45-year-old, type II diabetic female presented with a 5-month history of severe back pain. Her magnetic resonance imaging (MRI) revealed osteomyelitis involving the T4 vertebral body with epidural and prevertebral extension; notably, the intervertebral disc spaces were not involved. Although the fine-needle aspiration cytologic examination was inconclusive, the patient was empirically placed on antitubercular drug therapy. One month later, she became fully paraplegic. The MRI now demonstrated osteolytic lesions involving the T4 vertebral body with cord compression. She underwent biopsy of the T4 vertebral body and a transfacet T4 decompression with T2-T6 pedicle screw fixation. Culture and histopathological examinations both documented a cryptococcal infection, and she was placed on appropriate antifungal therapy. Notably, 3 weeks after surgery, she developed a sudden loss of vision loss due to retinal fungal endophthalmitis. She recovered vision in one eye after the administration of intravitreal voriconazole but lost vision in the other eye despite a vitrectomy. Over the next 8 months, she gradually recovered with motor function of 4/5 in both lower extremities without evidence of recurrent disease. Conclusion: Cryptococcal infection should be among the differential diagnostic considerations for patients with vertebral osteomyelitis. Notably, diagnostic delay can lead to devastating neurological deficits and involvement of other organ systems.

Wilms' tumor 1 (WT1) mutation has recently been detected in gliomas. Growing data indicate that WT1 mutation plays a causal role in gliomagenesis and is overexpressed in most glioblastomas. An emerging immunotherapy targeting WT1 has shown to be effective in resistant glioblastomas in clinical trials. WT1 expression and its potential utility in various grades of astrocytomas is still unclear and needs further elucidation. The evaluation of WT1 can be done by molecular or immunohistochemical methods. As immunohistochemistry is easier with wider routine use, immunoexpression of this biomarker was studied.The aim of this study was to characterize WT1 immunoexpression across different histological grades of astrocytomas to routinely aid in diagnosis and reproducibility and to assess the association between WT1 and immunomarker isocitrate dehydrogenase (IDH1).This was an observational prospective study on 79 cases of astrocytomas.Seventy-nine astrocytomas including 11 recurrent tumors were assessed for WT1 by immunohistochemistry. WT1 expression was detected in all astrocytomas (100%). The control group of reactive gliosis was negative. WT1 score correlated with histological tumor grades (P0.001) with higher score in higher grade. It was also observed that different tumor grades depicted two distinct expression patterns. WT1 score and pattern were valuable in differentiating high- and low-grade astrocytomas.This study supports the oncogenic role of WT1 in astrocytomas. WT1 was found to be valuable in distinguishing different grades of astrocytomas. WT1 can aid in differentiating neoplastic process from reactive gliosis, particularly in recurrent tumors. Higher expression in glioblastomas supports its immunotherapy potential.

A 28-year-old female presented with an incidentally detected mediastinal mass, found on routine chest X-ray. 18F-fluorodeoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) was advised to plan course of further management. FDG-PET/CT findings were suggestive of an FDG-avid soft-tissue mass in the left posterior mediastinum in paravertebral location with left pleural effusion. Overall, PET/CT scan findings favored the possibility of a nerve sheath tumor. However, histopathology along with immunohistochemistry confirmed the diagnosis of Castleman disease.

Chronic hematocele is uncommon in young patients. It may form huge mass which clinically can mimic testicular or scrotal neoplasms posing a diagnostic dilemma. Herein, we report a case of hematocele in young adult male presenting as a large testicular mass without any prior history of trauma. Clinical and radiological findings were suspicious of testicular tumor and right orchidectomy was performed. Diagnosis was established by histopathology which revealed an organised hematocele. The clinical, radiological and histopathological findings of this uncommon occurrence is discussed to highlight the diagnostic pitfalls.

Rhabdomyosarcoma (RMS) of the cervix in women older than 40 years of age is extremely rare. Embryonal RMS can appear deceptively benign both clinically and histopathologically. Diagnosis is made on the basis of histomorphologic and immunohistochemical findings. A high index of suspicion is, however, needed to make the diagnosis, as they can masquerade as benign polyps. A 41-year-old female with cervical RMS is described here. The initial biopsy diagnosis of embryonal RMS was confirmed on subsequent hysterectomy. The present case report is described with emphasis on histopathologic features and diagnostic difficulties along with a brief review of the literature.

Severe congenital neutropenia (SCN) is a rare disorder caused by heterogeneous genetic mutations. We describe here a rare association of SCN caused by a novel ELANE mutation and infantile hepatic hemangioendothelioma. In a 2-month-old infant, an abdominal ultrasound performed for omphalitis revealed a hepatic tumor, which was resected. Histopathology confirmed the diagnosis of hemangioendothelioma. Postoperatively, severe neutropenia was noted. Bone marrow examination showed myeloid maturation arrest, diagnostic of SCN. Mutation analysis for the neutrophil elastase gene identified a novel heterozygous de novo ELANE missense mutation in exon 2 (c.215T>A, p.Val72Glu). He was managed successfully with broad-spectrum antibiotics and high-dose granulocyte colony-stimulating factor.

Concomitant occurrence of phyllodes tumor with an in situ or invasive carcinoma in the breast is an uncommon phenomenon and has been reported sparingly. We describe a rare case of simultaneous bilateral intraductal and infiltrating duct carcinoma with coexisting fibroadenomas and phyllodes tumor. To the best of our knowledge, only 19 cases of invasive carcinoma with phyllodes tumor have been reported so far and lymph node metastases has been described only once. A 43 year-old woman presented with multiple bilateral breast lumps. Core biopsies revealed phyllodes tumor in the right breast and invasive duct carcinoma of the left breast. Simple mastectomy done for right breast showed foci of invasive carcinoma arising in phyllodes tumor. Metastasis was detected in the left axillary lymph nodes. This case is being reported to create awareness of this rare transformation, which has significant prognostic and therapeutic implications.

Inflammatory myofibroblastic tumor (IMT) is an uncommon entity usually encountered among children and involving the lungs. Involvement of trachea, however, is extremely rare with only a few published case reports. The condition may present with deceptive clinical features. We report a case of tracheal IMT in a 23-year-old female who presented with clinical symptoms mimicking asthma. On further evaluation, she was detected to have a tracheal mass that was diagnosed as IMT on histopathology and was successfully treated surgically. This case report highlights the rarity and diagnostic challenge associated with the condition.

Purpose: To investigate the role of cross polarized spectacles in the treatment of photosensitivity demonstrable by EEG. Method: Patients receiving an EEG who tested positive for photosensitivity were invited to participate in the study. The most sensitive light flicker frequency causing a photic response was determined for each patient. Stimulation was repeated with 2 different pairs of spectacles-1 conventionally polarized and the other cross polarized. An EEG was obtained in each case and reported by a neurophysiologist who was unaware of the identity of the 2 types of spectacles. Results: We tested 19 patients, 8 to 18 years of age. Two patients did not benefit from either pair of glasses. In 17 patients, the photic response was greatly diminished or eliminated by polarizing spectacles. In 1 patient, conventional polarized glasses helped, but the cross polarized spectacles did not. In 6 patients, both types of spectacles were equally effective; in 10 patients, cross polarized spectacles were more effective than conventionally polarized spectacles. Conclusion: The role of cross polarized spectacles in the management of photosensitivity in a clinical situation merits further investigation. Journal of Pediatric Ophthalmology and Strabismus 2001;38:331-334.

A new procedure for designing digital FIR notch filters for a specified notch frequency omega /sub d/ and 3-dB rejection bandwidth Delta omega has been proposed. Design formulae for computing the required weights and the length N for the filter have been derived. Illustrative examples confirming the new approach are also given.< >