Clinicopathological spectrum of central nervous system germ cell tumors: A single-institution retrospective study.

CONTEXT: Central nervous system germ cell tumors (CNSGCTs) though rare is the second most common extragonadal site for GCTs. AIMS: To determine the clinicopathological features of CNSGCTs diagnosed at our center. SETTINGS AND DESIGN: A retrospective study of all histologically diagnosed CNSGCTs, during 2006-2019. MATERIALS AND METHODS: The patients' data were retrieved from the hospital information systems and analyzed. STATISTICAL ANALYSIS: Data on categorical variables were analyzed as percentages, and data on continuous variables calculated as mean. Chi-square test or Fisher's exact test was used to study association between variables. RESULTS: Of the total 34 cases with CNSGCT, age ranged from 1 to 27 years, majority in the second decade (19/34; 56%). Male: female (M: F) ratio was 1.6:1. Single site involvement was seen in 27 cases (27/34; 79%), whereas seven (7/34; 21%) showed bi/multifocal involvement. Among the unifocal cases, common sites involved were suprasellar (12/27; 44.4%), closely followed by the pineal (10/27; 37%). All multifocal tumors affected suprasellar compartment, being bifocal with pineal in four cases. A male gender predilection was noted among pineal region (9/10;90%) and multifocal tumors (5/7;71%). Germinoma was the commonest subtype (21/34; 61.8%) with male gender predilection (17/21; 81%) (M: F =4.3:1), with female predilection seen among mixed GCTs (MGCTs) (8/10; 80%) (M: F =1:4) and suprasellar location (M: F =1:2). Serum tumor markers (25 cases) and CSF markers (7 cases) were concordant with histology in all, except two cases. CONCLUSION: Though histology and immunohistochemistry were diagnostic, correlation between serum and/or CSF marker was essential to rule out GCT component(s) that may be missed on biopsy due to sampling error.

Angiosarcoma of the head and neck: A clinicopathologic study with special emphasis on diagnostic pitfalls.

BACKGROUND AND AIMS: Angiosarcoma (AS) is a rare malignant vascular tumor that phenotypically and functionally recapitulate normal endothelium. They constitute approximately 2-4% of soft tissue sarcomas. We present 36 cases of head and neck AS diagnosed for 11 years at a tertiary care hospital in South India to analyze the clinical, pathological, and immunophenotypic profiles with special emphasis on their differential diagnoses and diagnostic pitfalls. MATERIALS AND METHODS: Head and neck AS diagnosed from January 2006 to December 2017 were included. Clinical characteristics, treatment received, and follow-up data were obtained from electronic medical records. Hematoxylin and eosin (H&E)-stained slides and immunohistochemistry (IHC) slides were reviewed, and the histomorphological features, immunohistochemical staining, and their utility in resolving differential diagnosis were assessed. RESULTS: Twenty-two females and 14 males were diagnosed with head and neck AS in the study period. Histomorphological patterns observed were mixed vasoformative and solid (n = 22), pure vasoformative (n = 13), and pure solid (n = 1). Neoplastic cells showed epithelioid, spindly, signet cell-like, clear cell, and rhabdoid morphology. CD31 was positive in 100% of cases, and CD34 was positive in 40% of cases. Differential diagnoses included melanoma, rhabdomyosarcoma, and large-cell lymphoma. Surgery, radiotherapy, and chemotherapy were the treatment modalities used. Twelve patients developed local recurrence, and 12 patients developed metastasis on follow-up. Twenty-five patients died of disease, on an average of 24 months after diagnosis. CONCLUSION: Head and neck AS pose a significant diagnostic challenge due to their broad morphologic spectrum. Proper clinicopathologic correlation is necessary to avoid misdiagnosis.

The Milan system for reporting salivary gland cytopathology - Assessment of utility and the risk of malignancy.

BACKGROUND: Cytological diagnosis of salivary gland lesions furnishes several challenges to pathologists and clinicians owing to their diverse morphology and varying reporting terminology. The Milan system for reporting salivary gland cytopathology was proposed to overcome these defects. The aim of this study was to grade histopathologically diagnosed cases of salivary gland pathology using Milan system and to correlate Milan system with histopathological diagnosis. The study aims to assess the utility of the Milan system and the risk of malignancy in each category. MATERIALS AND METHODS: This is a retrospective study of 4 years duration. All the cases of salivary gland pathology with fine-needle aspiration cytology findings from January 2015 to December 2018 were retrieved and classified according to the Milan system. Histopathology follow-up of these cases were reviewed from the archives, and risk of malignancy was calculated. Sensitivity, specificity, positive predictive value, and negative predictive value were calculated using histopathological diagnosis as the gold standard. RESULTS: Cytology slides of 151 cases were reviewed, and the Milan system was applied. Histopathology follow-up was obtained in 94 cases (attrition rate = 37.74%). The percentage of cases in each category were as follows: nondiagnostic = 9.27%, nonneoplastic = 4.64%, atypia of undetermined significance = 3.97%, benign neoplasm = 23.84%, neoplasm of uncertain malignant potential = 8.61%, suspicious for malignancy = 11.92%, and malignant = 37.75%. Sensitivity, specificity, positive predictive value, and negative predictive value of the Milan system were 94.20%, 96.00%, 98.48%, and 85.71%, respectively. CONCLUSION: The Milan system has high sensitivity and specificity in comparison with histopathology. This system proves helpful to the pathologist as well as the clinician in achieving uniformity of reporting terminology by classifying salivary gland lesions into subcategories with prognostic relevance.

Infratentorial atypical choroid plexus papilloma in an adult: A case report and literature review.

Atypical choroid plexus papilloma is classified as WHO (World Health Organization) Grade II subtype of choroid plexus tumor, and it has intermediate pathological features, prognosis, and clinical outcome rates between choroid plexus papilloma and choroid plexus carcinoma. These tumors are more common in children compared with adults and are usually located in the lateral ventricles. We present a case of an adult with atypical choroid plexus papilloma located in the infratentorial region. A 41-year-old woman underwent evaluation for headache and dull aching neck pain. Magnetic resonance imaging (MRI) of the brain revealed a well-defined intraventricular mass lesion in the fourth ventricle and foramen of Luschka. She underwent craniotomy and gross total excision of the lesion. Histopathological and immunohistochemical findings confirmed the diagnosis of atypical choroid plexus papilloma (WHO Grade II). We discuss the various treatment options for this condition and review the relevant literature.

Molecular subtypes of invasive breast carcinoma of no special type, their correlation with histopathological features, Ki 67 index and tumor budding: A retrospective comparative study.

Context: Tumor budding (TB), poorly differentiated clusters (PDCs), and Ki 67 index are proven adverse prognostic factors in breast carcinoma. Though the relation of Ki 67 index with molecular subtypes of breast carcinoma have been extensively studied, there is very limited information on the role of TB and PDCs. Aims: To grade TB, PDCs, and Ki 67 index and assess histological features and relationship of all these with molecular subtypes of invasive breast carcinoma of no special type. Methods and Material: Retrospective study of 148 cases from 1/1/2019 to 30/12/2019. Division of molecular groups - Luminal A, Luminal B, Her2 neu positive, and triple-negative breast carcinomas (TNBC), and Ki 67 index grades based on St Gallen criteria, intratumoral and peritumoral TB and PDC grades as per the International Tumor Budding Consensus Conference (ITBCC) criteria for colon and correlation between these and other histological features with the molecular subtypes were done. Statistical Analysis: Chi-square test, univariate and multivariate logistic regression models were used. Results: Significant correlation was seen between TB and lymphovascular emboli, Luminal B tumors with high-grade TB and PDCs, Her 2 neu positive and TNBC tumors with low-grade TB, circumscribed tumor margins, tumor necrosis, and Luminal B, Her 2 neu positive and TNBC tumors with larger tumor size and high nuclear grades. Conclusions: TB and PDCs are useful in the prognostication of Luminal A and B tumors when the Ki 67 index values are low/intermediate. Her 2 neu positive and TNBC tumors have a high nuclear grade with necrosis and no association with TB or PDCs.

68Ga-DOTANOC PET/CT in Multiple Endocrine Neoplasia 1 With Associated Adrenocortical Carcinoma.

ABSTRACT: Multiple endocrine neoplasia 1 (MEN1) syndrome is an autosomal dominant syndrome comprising a triad of pancreatic, pituitary, and parathyroid tumors. Adrenal cortical carcinoma occurs rarely in MEN1 syndrome. Here, we have presented a case of a 62-year-old woman with adrenal mass and elevated serum parathormone levels, who underwent 68Ga-DOTANOC PET/CT. 68Ga-DOTANOC PET/CT showed intense tracer concentration in the left adrenal mass and lesions in the liver, pancreas, and peritoneum. Biopsy of the peritoneal deposit revealed metastatic adrenocortical carcinoma, and further genetic testing showed MEN1 mutation.

Mesenchymal Chondrosarcoma-A Retrospective study.

INTRODUCTION: Mesenchymal chondrosarcoma is a rare high grade malignant neoplasm that accounts for 3-10% of all chondrosarcomas. Histopathologically, it shows biphasic population composed of small round to ovoid with occasional spindle cells and islands of well differentiated cartilage. The study aimed at retrospectively analysing the clinical, pathological, radiological features of these cases in our institution. MATERIALS AND METHODS: This is a retrospective descriptional study. All the cases of mesenchymal chondrosarcomas were retrieved from our archives of pathology over a period of 10 years .The demographic details including the age, clinical presentation including skeletal/extraskeletal along with radiology were noted for all these cases. The treatment details along with the follow up of the patients were archived from the medical records. RESULTS: A total of 13 cases of mesenchymal chondrosarcoma were retrieved for our study. The mean age of presentation was 33 years with a slight male predilection. Extra skeletal soft tissue origin was noted in 3 of our cases (3/13), one case in forearm, another in pelvis. The third case was intracranial origin which presented as a dural based parieto-occipital mass and rest all had bony origin .The radiological and clinical correlation was done for all these cases. CONCLUSION: Mesenchymal chondrosarcoma presents multiple diagnostic challenges, most common include inadequate biopsy samples which may result in errors in diagnosis, namely with small blue round cell tumours .A better understanding of this entity may help the pathologists in conferring an accurate diagnosis to the clinicians.

Papillary carcinoma thyroid serving as recipient tumor to carcinoma breast: A rare example of tumor-to-tumor metastasis.

A 36-year-old female presented with lump in the left breast of 2 months duration. Fine-needle aspiration cytology (FNAC) and trucut biopsy confirmed the diagnosis of carcinoma. Clinically, it was T3N1Mx disease. Computed tomography (CT) of the chest detected bilateral lung metastasis. CT head and neck detected a nodule in the thyroid which on FNAC was suspicious of papillary carcinoma. The patient was started on chemotherapy for breast disease with a good initial response; however, while on-follow up, there was progression of disease at primary site. The patient was taken up for surgery. Radical mastectomy along with total thyroidectomy was performed. Histopathological examination showed infiltrating duct carcinoma, not otherwise specified type and papillary carcinoma thyroid. There was a 0.4 cm × 0.4 cm metastatic focus, from breast carcinoma within the papillary carcinoma thyroid. The metastasis was confirmed by immunohistochemistry. Metastasis to thyroid is rare. However, tumor-to-tumor metastasis with papillary carcinoma serving as recipient to breast carcinoma is exceedingly rare with very few case reports in the literature. We report this case for its rarity and also for highlighting the fact that pathologists should keep in mind the possibility of metastasis also when coming across unusual morphology in thyroid lesions.

Sclerosing polycystic adenosis: A case report with review of the literature.

Sclerosing polycystic adenosis (SPA) is primarily a disease of major salivary glands. It was recognized as a distinct morphologic entity by Smith et al. in 1996. To best of our knowledge, 67 cases of SPA are reported in English literature. Here, we describe a case of SPA showing classic histomorphological features, involving the parotid gland of a 17-year-old girl. It was diagnosed as mucoepidermoid carcinoma at a peripheral hospital and was referred to our center. Histologically, it was well circumscribed and composed of lobules, separated by hyalinized stroma. Lobules showed adenosis, foci of acinic cell hyperplasia, and intraductal epithelial proliferation. Immunohistochemistry with p63 highlighted myoepithelial layer around every duct, acinus, and also in foci showing epithelial hyperplasia. There was no evidence of malignancy. Awareness of SPA, a benign rare entity, is essential to avoid misdiagnosing it as other common salivary gland tumors which it may mimic.

Ifosfamide-Induced Malignancy of Ureter and Bladder.

Cyclophosphamide-induced bladder malignancy is a well-known entity mediated by its metabolic product, acrolein. There is a significant association between the incidence of hemorrhagic cystitis during treatment and the later development of malignancies. We report a case of multifocal urothelial carcinoma occurring in a patient treated with ifosfamide 19 years ago. No case report of ifosfamide-induced malignancy could be identified in the literature. A brief review of the literature on the relative risks of ifosfamide therapy, the mechanism of bladder toxicity, and suggestions to minimize the deleterious effects of the drug have been done. Ifosfamide should be used in the lowest possible dose and that patients receiving more than 20 grams of the drug should undergo a routine urinalysis for microscopic hematuria. Prophylactic measures such as high fluid intake, frequent voiding, day time administration of the drug, and concomitant use of mesna may decrease the contact time and the concentrations of toxic metabolites on the bladder urothelium.

Low-grade papillary adenocarcinoma of nasopharynx with expression of thyroid transcription factor-1: Case report and review of literature.

Low-grade papillary adenocarcinomas with expression of thyroid transcription factor-1 (TTF-1) are rare tumors of the nasopharynx, with only a few cases reported in the literature. These tumors have an excellent prognosis following complete surgical excision. We report a 13-year-old boy with this rare tumor in the nasopharynx. The patient underwent complete surgical excision of the tumor and was on follow-up without evidence of recurrence.

Microglioma in a child - a further case in support of the microglioma entity and distinction from histiocytic sarcoma.

Microglia are not generally known to cause brain tumors but one bona fide case of adult microglioma has been published [9]. This tumor was highly malignant. We now report on a second, juvenile case, which showed a less aggressive course. Microglioma is a primary central nervous system (CNS) neoplasm distinct from glioma and other known brain tumor entities, based on its strong immunoreactivity for the macrophage marker CD163, the microglia marker Iba1, and the complete absence of neural as well as lymphocyte antigens. Furthermore, we have analyzed the literature and identified a number of cases that qualify as primary parenchymal histiocytic sarcomas of the CNS, which lack microglial morphology. Considering the non-hematopoietic developmental origin of the vast majority of microglia and the distinct morphological as well as immunophenotypic similarity of their neoplastic counterparts, we suggest using the term microglioma. More cases will be required along with appropriately-collected tissue to establish the molecular genetic profile of this extremely rare entity.

Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report.

Swyer syndrome or pure gonadal dysgenesis 46, XY is a medical condition associated with 46 XY karyotype and primary amenorrhea in a phenotypic female. In this syndrome, there is an abnormality in testicular differentiation. Patients with disorders in sexual differentiation have an increased risk for development of genital malignancies. A 14-year-old female admitted with abdominal pain was diagnosed to have Swyer syndrome and a pelvic tumor after clinical and laboratory investigations. She underwent surgery, and the histology report revealed a mixed germ cell tumor in a dysgenetic gonad. She recurred three months later and was successfully treated with chemotherapy and a second surgery to remove the differentiated teratoma. The early diagnosis of patients with Swyer syndrome is important because of the increased risk for the development of malignancy. Early surgical treatment is required. Recurrent and metastatic disease respond well to chemotherapy.

Role of frozen section in intraoperative assessment of ovarian masses: a tertiary oncology center experience.

Surgical management of ovarian lesions vary considerably depending on the nature of the lesion. As the preoperative imaging and serum tumor marker levels are of limited value in the proper categorization of ovarian lesions, intraoperative pathological assessment is commonly requested for a primary diagnosis. Aim of the study is to assess the accuracy of the frozen section in the diagnosis of ovarian masses in our center and to analyze the causes of diagnostic discrepancies. In this retrospective study, frozen section diagnosis of 233 cases of ovarian masses was compared with the permanent section diagnosis. The overall accuracy of frozen section was 91.85 %. The sensitivity of frozen section diagnosis for benign, borderline and malignant tumors was 99.2, 88.46 and 82.95 % respectively. The corresponding specificity was 96.5, 93.23 and 99.3 %. There were 19 discordant cases including 18 false negative cases and one false positive case. Frozen section is an important diagnostic tool to determine the nature of ovarian masses. Careful macroscopic examination, evaluation of multiple sections along with clinical and radiological findings helps to reduce false positive and false negative results. Frozen section examination has limitations especially in cases of borderline tumors. This modality is most effective when the pathologist and surgeon are aware of the advantages and limitations.

Pleomorphic adenoma of breast-a case report and review of literature.

Pleomorphic adenoma (PA) is a rare benign tumour of the breast. However inadequate surgery of this tumour, which is notorious for its pseudopod like extension into adjacent tissue, results in recurrence. We report a case of pleomorphic adenoma of the breast that has been excised at a local hospital and then referred to a tertiary care hospital for definite management. The diagnostic dilemmas and optimal management, of such cases where dependable pathology report and details of primary surgery are often not available, are discussed.

Anaplastic large cell lymphoma presenting as a cerebellar mass.

Anaplastic large cell lymphoma (ALCL) is a T cell lymphoma occurring commonly in childhood and rarely in adults. Central nervous system involvement in ALCL is very rare and cerebellar involvement at presentation has never been described. We examine the case of a young adult who presented with a cerebellar mass. A 19-year-old boy presented with signs of raised intracranial tension, which, on imaging, revealed a right cerebellar mass. He underwent suboccipital craniotomy and partial excision of the tumor. However, the histopathology was inconclusive. He subsequently presented with cerebellar signs and repeat imaging showed recurrence of the cerebellar lesion. He underwent decompression and ventriculoperitoneal (VP) shunting. Histopathology was suggestive of ALK (anaplastic lymphoma kinase) positive anaplastic large cell lymphoma. The patient was started on chemotherapy. However, his neurological status deteriorated, his condition worsened, and he expired a month later.