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 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.

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.

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.

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.

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.

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.

Cytological findings of phosphaturic mesenchymal tumor: Report of a case with summary of prior published cases.

Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm causing tumor-induced osteomalacia (TIO) and is characterized by secretion of FGF23, renal phosphate wasting and hypophosphataemia. It can be completely cured by resection and therefore its diagnosis is of utmost importance. Although the histology is well described, there is sparse literature on cytology of PMT and only three cases have been described so far. A 45-year-old lady presented with a non-tender mass in hard palate for 2 years from which fine-needle aspiration was done. The smears were paucicellular and showed bland spindle cells embedded in osteoid-like stromal matrix in a hemorrhagic background. Here we take the opportunity to describe the cytological findings of PMT along with its cytological differentials and a summary of prior published cases.

Testicular Mixed Teratoma and Yolk Sac Tumor, Prepubertal Type: A Case Report with Summary of Prior Published Cases.

BACKGROUND: Testicular mixed germ cell tumor is common in the post-pubertal age, less so in prepuberty. There are only 3 reports of prepubertal mixed teratoma and yolk sac tumor. Two of these cases had immature teratoma component and were in the neonatal age group. The third case in a toddler had a mature teratoma component. CASE REPORT: An 18-month-old boy presented with a testicular mass. Serum AFP was elevated (2200 ng/ml). The orchidectomy specimen contained a yolk-sac tumor and a small epidermoid cyst, indicating a mature teratomatous component. CONCLUSION: We report a testicular mixed teratoma and yolk sac tumor, prepubertal type along with summary of prior published cases. There is only one report describing this combination of mature teratoma with yolk sac tumor in the prepubertal testis.

Quest to develop a standard screening method for urothelial carcinoma using liquid-based cytology (The Paris System) and CK20.

Background: Bladder cancer, the most common malignancy of the urinary tract is a leading cause of morbidity and mortality. But cystoscopy, which is till now the mainstay of screening, is an invasive, high-cost method with low sensitivity especially for flat lesions. Aim: To find a non-invasive and effective screening method with liquid-based cytology (LBC) using The Paris System (TPS) and CK20 immunocytochemistry. Materials and Methods: It was a prospective study including the patients with clinical or cystoscopic diagnosis of urinary bladder space occupying lesions (SOL). Both conventional (CC) and liquid-based cytology slides were prepared from urine samples. Slides were evaluated by two trained pathologists and categorized according to TPS guidelines. CK20 immunocytochemistry (ICC) was also performed. Consequent formalin-fixed paraffin embedded sections were blindly examined by another pathologist and was taken as gold standard for comparison. Statistical Analysis: All the statistical analysis were done using MedCalc version 15.8 [Mariakerke, Belgium: MedCalc Software 2015]. Results: The study included 150 cases with a mean age of 62.4 years. Five cases revealed unsatisfactory smears. Rest of the cases were categorized as the following: 18.1% as NH-GUC, 8% as LGUN, 22.1% as AUC, 15.4% as SH-GUC, 32.9% as HGUC. Kappa value of CC and LBC were strong (0.854). LBC alone showed very low specificity (58%) and PPV (74.8%) which improved on application of ICC (specificity: 97.4%, PPV: 96.3%). Conclusion: We conclude that CK20 ICC offers potential for accurate, non-invasive detection and surveillance of bladder cancer and is a better tool when combined with liquid-based cytology, reported using The Paris System.

Differentiating biliary atresia from other causes of infantile cholestasis: An appraisal of the histomorphological changes on liver biopsy.

Background: Cholestatic disorders are a significant cause of morbidity and mortality in infants. Characterization of these disorders and differentiating biliary atresia (BA) from other causes of intrahepatic cholestasis is an age-old problem. Objectives: To study the spectrum of different infantile cholestatic disorders in our population, to differentiate BA from other causes of neonatal cholestasis (NC) on a liver biopsy, and validation of the available scoring system for the characterization of these disorders. Materials and Methods: This is an observational cross-sectional study performed over a period of 3 years between 2018 and 2021, done on neonates and infants presenting with cholestatic jaundice. The changes on liver biopsy were evaluated by different histological parameters and available scoring systems to differentiate BA from non-BA causes. Correlation with clinical, biochemical, and imaging findings was done in all cases. Results: This study included 87 cases of NC, of which BA comprised 28 cases (32%), whereas idiopathic neonatal hepatitis (INH) comprised only 12 cases (14%). Portal neutrophilic inflammation (P = 0.000053), ductal cholestasis (P < 0.001), neoductular bile plugs (P < 0.001) and bile ductular proliferation (P < 0.0001) were significantly more in BA, whereas lobular lymphocytic inflammation (P = 0.001) and giant cell transformation of hepatocytes (P = 0.0024) were more frequent in the non-BA group. Using the Lee and Looi scoring system, a histologic score ≥7 was helpful in identifying BA with 85.7% sensitivity, 92.6% specificity, and 90.6% accuracy. Conclusion: BA is the commonest cause of NC in neonates, whereas the frequency of INH is declining. Detailed histomorphologic analysis of liver biopsy, aided with IHC, is the cornerstone for the diagnosis of these disorders.

Labial Lipoblastoma in an Infant: An Uncommon Tumor at an Uncommon Site.

Lipoblastoma and lipoblastomatosis are benign fatty tumors of soft tissues that are unique to childhood. Occurrence of lipoblastoma in the labial region is infrequent and can cause diagnostic dilemma. Awareness about this entity is important to avoid hazardous treatment in young children. Here, we present a case of labial lipoblastoma in a 2-year-old child along with its differential diagnosis.

Giant Congenital Melanocytic Nevus with Congenital Neurofibroma: A Case Report.

BACKGROUND: Giant congenital melanocytic nevus (GCMN) is characterized by its large size and potential for transformation into melanoma. It can be associated with other neural cristopathies, including neurofibroma, however, it has not previously been described with a congenital neurofibroma. CASE REPORT: A newborn girl presented with a large congenital neurofibroma arising in a bathing trunk type of giant congenital melanocytic nevus. CONCLUSION: Congenital neurofibromas can be associated with (or a component of) a GCMN.

Yolk Sac Tumour Arising in the Glans Penis an Achondroplasic Child: A Case Report with Summary of Prior Published Cases.

BACKGROUND: Yolk sac tumors (YST) are commonly encountered gonadal germ cell tumors in children, especially in the prepubertal age group. In addition to gonadal primary, it can occur in multiple extragonadal sites, of which sacrococcygeal, retroperitoneum, gastric and mediastinum are the commonest. There are 4 previous reports of primary penile YST. CASE REPORT: We describe a primary penile yolk sac tumor in a child with achondroplasia. CONCLUSION: Yolk sac tumor can occur in the penis during the prepubertal period. Penile yolk sac tumor associated with achondroplasia has not been previously reported, but this could be incidental.

Heavy chain deposition disease in a case of clear cell renal cell carcinoma- A jack in the box.

Renal cell carcinoma (RCC) is the most common subtype of adult renal tumors, and its detection rate in the early stages has been increased in the dawn of advanced imaging modalities. Nephrectomy is the mainstay of treatment; determination of tumor category and staging is the primary concern of oncopathologists. Non-neoplastic renal parenchyma is overlooked majority of times and thus misses the opportunity to detect concomitant medical renal diseases which also predict the renal outcome in the postoperative era. Although any kind of glomerular or extraglomerular pathology may be encountered, vascular changes in the form of arterionephrosclerosis are the commonest one. Here, we take the opportunity to report an unusual association of heavy chain deposition disease (HCDD) with clear cell subtypes of renal cell carcinoma in a 48-year-old male of Indian ethnicity.

Cytological features of chordoid glioma: A case report with summary of prior published cases.

Chordoid glioma is an uncommon low-grade glioma and is a CNS WHO grade 2 tumour in the current WHO 2021 classification. Predominantly it is seen in the third ventricle and in young adults. Although the histological features of chordoid glioma are well documented, there is sparse literature describing its cytological features. Here we describe the squash cytological features of a case of chordoid glioma along with summary of prior published cases. The smears tend to be quite cellular, the cells show mild pleomorphism, anisonucleosis, and absent mitotic activity. The background shows a distinctive bluish myxoid stroma. It can be mistaken for high grade glioma on squash cytology.

Leukemia cutis - A case of cutaneous manifestation of acute monoblastic leukemia.

Leukemia cutis is a comprehensive terminology for dermal manifestations of any type of leukemia either with accompanied or antecedent blood or bone marrow involvement. Although both myeloid and lymphoid neoplastic leukocytes can infiltrate the skin, the frequency is higher among children with congenital myeloid leukemia. However, the underlying pathogenesis of dermal tropism is not yet established. Clinical manifestation varies regarding appearance, site, and numbers. Skin biopsy is essential for the early establishment of the diagnosis and to guide for further testing and categorical management. We report the case of acute myeloid leukemia-cutis in a 22-year-old female where cutaneous manifestation preceded the hematological diagnosis of systemic leukemia.