Shrijeet Chakraborti

Rosai-Dorfman Disease of the Breast in a Male

Background Rosai-Dorfman disease (RDD), or sinus histiocytosis with massive lymphadenopathy, is a benign, self-limiting disease. In the majority of cases, there is massive and painless lymphadenopathy in any lymph node group but most commonly in the cervical lymph nodes, associated with constitutional symptoms. Extranodal involvement has been reported to occur in almost every organ system, with or without concomitant nodal disease. The breast is a rare site of presentation of this disease. Case A 35-year-old male presented with a hard, nodular swelling in the lower and outer quadrant of the right breast, with a clinical suspicion of malignancy. A diagnosis of sinus histiocytosis with massive lymphadenopathy, or RDD, was offered based on the presence of numerous lymphocytes, plasma cells, a few neutrophils and large histiocytes showing emperipolesis in fine needle aspiration smears. Conclusion Mammary RDD is extremely rare in males. The cytologic features are fairly characteristic and should be considered in the differential diagnosis whenever atypical histiocytes and emperipolesis are encountered in fine needle aspiration smears.

Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging.

Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the central nervous system, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids. The attempt of this paper is to review the classical and not-so-classical MR imaging manifestations of adrenoleukodystrophy. A review of literature is done to describe the pathophysiology of the disease and the imaging differences between childhood and adult-onset of the disease. The literature is reviewed to explain the link with Addisons disease. In consensus the magnetic resonance imaging (MRI) findings of symmetrical occipital white matter lesions which progress in a rostro-caudal direction is the classical appearance of ALD. Familiarity with the clinico-pathologic manifestations and progressive MR imaging features of childhood cerebral X-linked ALD will be helpful in evaluating the affected patients.

Pilomyxoid astrocytoma with high proliferation index.

Pilomyxoid astrocytomas is an uncommon aggressive piloid neoplasm, closely related to pilocytic astrocytomas and typically presents in the very young but can occur in older children and rarely in adults. A 12-years-old male presented with focal seizures, headache and vomiting of 10 days duration. Computed tomogram showed a hypo- to hyperdense and peripherally enhancing, solid-cystic lesion in the left temporal lobe. Histopathological examination revealed a characteristic tumor composed of bipolar cells arranged in dyscohesive sheets, angiocentric pattern in a loose myxoid background, with brisk mitotic activity and foci of necrosis. No Rosenthal fibers or eosinophilic granular bodies were seen. The tumor cells showed strong GFAP and scattered p53 positivity, but were negative for EMA. Ki-67 positivity ranged from 30 to 40%, highest reported till date. The patient was treated with radiotherapy and concurrent temozolamide and the tumor recurred after two years.

Sacrococcygeal myxopapillary ependymoma with anaplastic ependymoma component in an infant.

Sacrococcygeal location of myxopapillary ependymoma (MPE) is uncommon. Local recurrence and metastases are on record inspite of its benign characteristics. We report a rare case of sacrococcygeal MPE in an 11-month-old female child who showed typical myxopapillary ependymal histology along with anaplastic ependymal component. Ki-67 labeling index in the myxopapillary component was 4-5% and in the anaplastic component was 70%. Six weeks after gross total resection of the tumor, the child presented with local recurrence and metastasis in the right inguinal lymph nodes and was treated with chemotherapy. The present case of sacrococcygeal MPE with anaplastic ependymoma component is the second case on record in the medical literature, and the first case without any syndromic features. Metastasis in this case can be explained because of the anaplastic component, with mitotic count of 5-6/high power field and high Ki-67 labeling index.

Seminal vesicle schwannoma presenting with left hydroureteronephrosis

We report a very rare case of seminal vesicle schwannoma in a 50-year-old male, with left hydroureteronephrosis. Only five cases of seminal vesicle schwannomas have been reported in medical literature until date.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Homozygous Deletion of Exons 2 and 3 of NPC2 Associated with Niemann–Pick Disease Type C Malavika Hebbar, Harsha Prasada L, Aneek Das Bhowmik, Daniel Trujillano, Anju Shukla, Shrijeet Chakraborti, Krishna Kumar Kandaswamy, Arndt Rolfs, Nutan Kamath, Ashwin Dalal, Stephanie Bielas, and Katta Mohan Girisha* Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany Department of Pathology, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Mecklenburg-Vorpommern, Germany Department of Human Genetics, University of Michigan, Ann Arbor, Michigan

Recurrent metastatic mixed germ cell tumor of central nervous system with additional seminomatous component

Mixed germ cell tumors (GCTs) are aggressive tumors owing to poor response to therapy, frequent recurrence and metastasis. We present here a case of 29-year-old male with recurrent metastatic mixed GCT in the left parietal lobe, with right testicular primary. Interestingly, the recurrent tumor exhibited a seminomatous component, in addition to yolk sac tumor and embryonal carcinoma. The patient was treated with surgery, cranial radiotherapy and cisplatin-based chemotherapy. The metastatic intracranial tumor recurred twice and the patient died 18 months after the first appearance of central nervous system metastasis.

Evaluation of gastric biopsies in chronic gastritis: Grading of inflammation by Visual Analogue Scale

Introduction: Gastritis is a common condition with many etiologies and the classification of the same poses a great challenge to the pathologist. Aim: This study was undertaken to classify gastritis according to the Sydney system guidelines including graded and non-graded variables and simultaneously find association of Helicobacter pylori (H. pylori) with each of these variables. Materials and Methods: A total of 100 biopsies of chronic superficial gastritis received over a period of two years were studied, prospectively. Histology was evaluated with Hematoxylin and eosin, and Giemsa stains, and Gomori’s staining method for demonstration of reticulin fibres. Rapid Urease test results obtained from gastroenterology department were compared with histopathology. Chi-square test was used to analyze the correlation between the various variables. Results: Gastritis cases showed a male preponderance and the most common presenting complaint was dyspepsia. H. pylori gastritis usually shows increased neutrophilic activity but can also present with increased mononuclear inflammatory infiltrate and lymphoid follicles in chronic gastritis. Intestinal metaplasia and atrophy indicates the chronicity of the disease. H. pylori were noted in the areas away from the metaplastic gastric epithelium. Conclusion: The study showed that histopathology is the most sensitive test for diagnosing H. pylori on endoscopic biopsies. Though, rapid urease test kit gives gastroenterologist a rapid diagnosis, its specificity is low, and hence should be combined with histopathology, which is the gold standard for diagnosis.

Primary melanoma of the spinal cord: a case report.

Primary melanoma is an extremely rare tumour of the spinal cord. We are reporting a case of primary melanoma of the spinal cord in a 55-years-old male patient. Magnetic resonance imaging showed an extradural intraspinal lesion opposite the L4 vertebral body. The lesion was completely resected and a microscopic diagnosis of melanoma was made. Thirty eight months later, the patient is alive, with no evidence of any tumour recurrence.

PTPH1 immunohistochemical expression and promoter methylation in breast cancer patients from India: A retrospective study: VENKATESH et al.

Protein Tyrosine Phosphatase H1/Protein Tyrosine Phosphatase Non receptor Type 3 (PTPH1/PTPN3) is upregulated and/or mutated in glioma, ovarian, gastric, and colorectal cancers. Previous studies have documented that PTPH1‐associated breast cancers exhibit enhanced sensitivity to tamoxifen and tyrosine kinase inhibitors through dephosphorylation of ER and epidermal growth factor receptor, respectively. Owing to the key role that PTPH1 plays as a biomarker in predicting the response of chemotherapeutic drugs and lack of studies on Indian breast cancer patients, the present study investigated PTPH1 protein expression and its relationship to clinical features, ER/PR/HER2/neu statuses, and methylation of promoter in breast cancer tissues (n = 67) among Indian population by immunohistochemistry and methylation specific polymerase chain reaction. PTPH1 expression was upregulated in 58.21% (39/67) and downregulated in the rest of tumor specimens, and it correlated with ER, PR, and HER2/neu statuses with p values of <0.0001, 0.0113, and 0.0448, respectively. Additionally, we found that the 2 kb region upstream of PTPH1 gene harbored CpG sites within, and was ubiquitously methylated in breast cancer (n = 13), colon cancer tissue (n = 1), uterine cancer tissue (n = 1), normal breast tissue (n = 1) in addition to Hela and MCF7 cell lines. In conclusion, our data showed a strong correlation of the PTPH1 status with the ER and ubiquitous nature of PTPH1 promoter methylation at specific CpG sites irrespective of cancer types and protein expression. Our findings underscore the clinical relevance of PTPH1 expression in Indian patients and warrant additional studies to explore the importance of ubiquitously methylated promoter at specific CpG sites in upstream of the PTPH1 gene.