Metastatic Neuroblastoma in the Testis: Report of a Case with Review of Literature.

Neuroblastoma is the most common extracranial malignant solid tumor in childhood. Neuroblastoma is known to metastasize in certain niche areas such as the bone, bone marrow, liver, and skin. Testicular metastasis of neuroblastoma is uncommon, and only a few cases have been reported. In this communique, we describe an infant with neuroblastoma presenting with testicular metastasis. Testicular metastasis of neuroblastoma, although uncommon, should be considered a differential of testicular masses in children.

A case of superficial CD34 positive fibroblastic tumor: Diagnostic challenges and pitfalls.

ABSTRACT: Superficial CD34 positive fibroblastic tumor (SCPFT) is a recently described soft tissue tumor of intermediate grade with predilection for subcutaneous and superficial fascial planes. Morphological diagnosis of these tumors can be challenging because of overlapping features with other benign and malignant soft tissue tumors of fibroblastic and myofibroblastic origin. A middle-aged man came with a subcutaneous mass in the left thigh. Microscopic examination showed features of an SCPFT comprised of a circumscribed spindle cell tumor with focal striking pleomorphism and bizarre hyperchromatic nuclei. Immunohistochemically (IHC), the tumor cells showed diffuse positivity for CD34 and focally for cytokeratin. Diagnosis of SCPFT on the basis of morphology alone can be challenging. A constellation of clinicoradiological profiles, IHC features, and sometimes molecular studies clinch the definitive diagnosis which can be helpful in avoiding overtreatment and chemotherapy. Here we highlight the diagnostic challenges and pitfalls in a case of SCPFT.

Myasthenia gravis with Castleman disease: A case report with review of literature.

ABSTRACT: Myasthenia gravis is an autoimmune disorder caused by the formation of autoantibodies directed against the synapses of neuromuscular junction. It is most commonly associated with other non-thymomatous lesions. Castleman disease is one of them, which is a benign lymphoproliferative disorder of uncertain origin. Only eight cases of myasthenia gravis associated with Castleman disease have been described so far. Here, we take the opportunity to describe a case of myasthenia gravis with Castleman disease simulating thymoma clinically and radiologically along with review of literature of this rare association. Patient developed myasthenic crisis in the immediate post-operative period which is more common in myasthenia gravis with Castleman disease rather than myasthenia gravis with thymoma.

MiT family translocation-associated renal cell carcinoma: A report of two cases in children.

ABSTRACT: Renal cell carcinoma is uncommon in children and must be distinguished from the more common Wilms' tumor. Here, we present two cases of renal cell carcinoma in children both of whom presented with hematuria. Accurate diagnosis is essential in order to differentiate it from epithelial predominant Wilms' tumor which has vastly different prognosis and treatment. Immunohistochemistry for TFE3 is useful in establishing the diagnosis.

Clinicopathological profile of ependymomas with special reference to survival data - Experiences of a tertiary care center'.

BACKGROUND AND AIMS: Ependymomas exhibit heterogeneity across age, location, histology, molecular nature and survival suggestive of an epigenetic component in its pathogenesis. The CNS WHO classification (2021) classifies ependymomas based on DNA methylation profiles. Studies suggest that molecular sub-types remain stable throughout the course of disease. Immunohistochemical expression of L1CAM, has been identified as a surrogate marker for ZFTA/c11orf95-RELA fusion in supratentorial ependymomas. This study aims at realising its utility specially in resource-poor setups. MATERIALS AND METHODS: Forty-three histopathologically-proven cases of ependymoma under treatment over the period of three years were selected. Histopathological examination followed by routine IHC staining for GFAP, S-100, EMA and Ki-67 in all cases and L1CAM in the supratentorial ependymomas was done. We have followed-up almost all cases during our study period and was correlated with the IHC expression patterns and clinico-pathological parameters, including survival. RESULTS: In our study the commonest location for ependymomas was spine in adults and posterior fossa in pediatric age group. Majority cases belonged to CNS WHO Grade 2 both in adults and in the paediatric age group. Supratentorial location of ependymomas with positive immuno-reactivity for L1CAM and a higher Ki-67 labelling index were associated with poor survival. CONCLUSION: Our study revealed that L1CAM is an effective surrogate marker for supratentorial ependymomas possibly carrying the ZFTA Fusion gene product. The L1CAM immuno-reactivity also corresponded with the survival data. However, larger population-based studies are required to validate these results further.

Virilizing adrenocortical carcinoma in a female child of Li-Fraumeni syndrome.

ABSTRACT: Adrenocortical carcinoma is a rare malignancy and even rarer in infancy. Most of these tumors in the pediatric age group are hormonally active and predominantly present with virilization. We report a case of a 1-year-3-month-old female child presenting with virilization. She presented with hypertension, hypertrichosis, clitoromegaly (virilization), and elevation of plasma testosterone and dehydroepiandrosterone. A discussion of this case and a review of the literature on this entity are presented.

Clinicopathological study of adrenal pheochromocytoma and extra-adrenal paragangliomas with reference to GAPP and PASS scoring systems.

BACKGROUND: The presence of distant metastasis is known to drastically reduce survival of adrenal pheochromocytoma (PH) and extra-adrenal paraganglioma (PGL). Therefore, predicting malignant potential has an immense impact on prognosis. Pheochtomocytoma of adrenal gland scaled score (PASS) and the grading of adrenal pheochromocytoma and paraganglioma (GAPP) score are two histological algorithms used to predict metastatic potential, but neither has been regarded as 'gold-standard'. Both these scoring systems are yet to be validated. Here, we tried to validate the association of GAPP/PASS scores with disease outcome and strength of association between individual GAPP/PASS parameters with prognosis. MATERIALS AND METHODS: This was a prospective study comprising 22 pheochromocytomas and eight paragangliomas. GAPP score was calculated in paraganglioma cases, and both GAPP/PASS scores were calculated for pheochromocytomas. Disease outcome was then tallied with risk stratification of the GAPP/PASS scoring system. Succinate dehydrogenase B (SDHB) immunohistochemistry was done in 15 cases to see its impact on prognosis. RESULTS: The common PASS parameters associated with malignancy were 'high cellularity', 'tumor cell spindling' and 'extension into adipose tissue'. PASS score showed high sensitivity and negative predictive value but low specificity and positive predictive value. Similarly, GAPP score also showed high sensitivity and negative predictive value but low specificity and positive predictive value. CONCLUSION: In our study, GAPP/PASS scores successfully segregated tumor with low malignant potential from tumor with higher risk of metastasis, although specificity of GAPP was more than PASS. We also found that addition of objective parameters like SDHB immunohistochemistry may further increase the specificity of the existing scoring system.

Pitfalls in Cytological Diagnosis of Extra Adrenal Paraganglioma and Pheochromocytoma: Experience From a Tertiary Care Center.

BACKGROUND: Pheochromocytoma and extra-adrenal paragangliomas increasingly coming into light nowadays because of improved imaging techniques and biochemical investigations. There is sparse literature available regarding cytological findings of adrenal and extra-adrenal paragangliomas. MATERIAL AND METHODS: We studied 16 cytological specimens retrospectively over a period of 3 years, where subsequent histological diagnosis of phaeochromocytoma or paraganglioma was available. RESULTS: A total of 16 cytology specimens were studied. Nine patients had adrenal SOLs and seven patients had extra-adrenal lesions. Age range was 12 to 60 years Majority of the cytology smears were cellular (87.5%). The smears were composed of small clusters as well as dispersed plasmacytoid cells with eccentric nuclei containing salt and pepper chromatin and moderate to abundant granular cytoplasm. Large cellular clusters mimicking the Zellballen pattern was present in one case. Anisonucleosis was mild to moderate, except in three cases where marked anisonucleosis posed diagnostic challenges. The background was hemorrhagic in all cases, however, two cases in addition had necroinflammatory background. All cases lacked mitotic activity and cytoplasm was delicate with indistinct cell borders. Bare oval nuclei were a frequent finding. Nuclear grooves or cytoplasmic vacuoles were absent. In 12 out of 16 cases, the initial cytological diagnosis correlated with final histological diagnosis, with an overall diagnostic accuracy of 75%. Four misdiagnosed cases had some atypical cytological features like marked anisonucleosis, necroinflammatory background, and presence of prominent nucleoli. CONCLUSION: Here we have highlighted some of the distinguishing cytological features that can help in cytological diagnosis of paragangliomas. Hemorrhagic background with plasmacytoid morphology, granular cytoplasm, naked nuclei, and absence of mitosis are useful clues.

Biliary atresia with splenic malformation with associated ductal plate malformation and duodenal atresia: A case report.

ABSTRACT: Biliary atresia (BA) is the most common cause of the obstructive type of neonatal cholestasis that requires prompt surgical intervention. About 10% of neonates with BA have other congenital anomalies, of which splenic malformation (BASM) is a well-known distinct sub-group. There is sparse literature on the association of duodenal atresia and ductal plate malformation (DPM) in patients of BASM. We describe a BASM associated with DPM and duodenal atresia in a 35-day-old infant, who succumbed at 40 days, before portoenterostomy could be performed. Duodenal atresia can be one of the associated malformations associated with BASM and ductal plate abnormalities. In our case, the child did not survive.

Primary hepatic leiomyosarcoma masquerading as focal nodular hyperplasia of liver: A wolf in sheep's clothing.

ABSTRACT: Primary hepatic leiomyosarcoma is a rare hepatic malignancy which requires exclusion of other primary site of origin. Clinical presentation and imaging of this tumor is nonspecific and mimics many other hepatic neoplasms. A 62-year-old female patient presents here with right hepatic mass with insidious onset and radiological features favoring a benign solid lesion suggestive of focal nodular hyperplasia. On right hepatectomy, an encapsulated mass identified about 11 cm in maximum dimension with pushing margin and central scar-like area. Histopathological examination reveals a spindle cell tumor and panel of immunohistochemical markers is required to distinguish it from other morphological mimickers. Diagnosis of primary hepatic leiomyosarcoma requires histopathology along with immunohistochemical examination. It is thus advisable to do preoperative biopsy with immunohistochemistry in all patients having atypical imaging and clinical features.