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.

Clinico-Hematological Profile in Hemoglobin SE Disease: A Case Series from a Tertiary Care Centre.

Hemoglobin SE (HbSE) disease are rare globally and there is paucity of literature regarding this condition. Cases reported in the Indian scenario so far have been limited to the tribal populations. This case series aims to highlight the rarity of this double heterozygous state and to raise awareness of its community prevalence beyond the tribal population. This is a case series over a 5-year observation period with six cases of double heterozygosity for HbS and HbE in our tertiary care centre. Four cases were in the 8-15 years' age group and 2 cases of 24-25 years' age group reported for initial evaluation due to easy fatigability and weakness: Two cases were siblings with history of consanguineous marriages in the family. Mild Pallor, variable icterus, spleen was just palpable in three of the cases and low MCV recorded in all cases. Sickling tests were positive and high performance liquid chromatography (HPLC) revealed both HbS > 50% and HbE fractions ≥ 25%. It's important to detect this rare condition, prevalent in consanguineous marriages as dreaded complications like sickling crisis may manifest during pregnancy and air travel. Detection and genetic counselling is important for prognosis, planning follow up and therapy for this uncommon double heterozygous state.

Cytological features in pilomyxoid astrocytoma: A case report with summary of prior published cases.

Pilomyxoid astrocytoma is a subtype of pilocytic astrocytoma that is described as a grade 1 tumour in the 2022 WHO classification of central nervous system tumours. It occurs predominantly in the hypothalamic region in infants. Although the histological features of pilomyxoid astrocytomas are well documented, few reports are available in the literature regarding cytological findings. Here we describe the squash cytological features of a case of pilomyxoid astrocytoma along with a summary of prior published cases. Smears for this type of tumour tend to be more cellular, with piloid cells arranged in an angiocentric pattern without Rosenthal fibres or eosinophilic granular bodies. A blue myxoid substance may be present in the background.

Adrenal and Mesenteric Teratomas in Infants: Common Tumors in Uncommon Sites.

Teratomas are common tumors in children. The most common sites are gonads, however, several extragonadal sites are well known such as sacrococcygeal region, mediastinum, head and neck, stomach, and vagina. Occasionally, teratomas occur in unusual sites which pose diagnostic difficulties. Here, we describe two cases of infantile teratomas with unusual presentation. The first case was a 6-month-old girl who presented with a mass in the right side of the abdomen. Computed tomography (CT) scan showed a solid-cystic mass in the right suprarenal region. The second was a 4-month-old boy who came with a huge abdominal mass. Contrast-enhanced CT showed a tumor arising from the jejunal mesentery. On microscopic examination, they were diagnosed as mature and immature teratoma, respectively. Although neuroblastoma is the most common infantile adrenal neoplasm, the possibility of teratoma should be considered for cystic adrenal lesions. Mesenteric teratoma can be difficult to distinguish radiologically from the more common lymphangioma; however, accurate diagnosis is important in view of long-term follow-up for teratomas because of the possibility of malignant transformation.

Perinatal and Fetal Autopsies in Neuropathology: How I do it.

Fetal and perinatal autopsies are useful to identify the accurate cause of death and in the process recognize disorders which may require counselling for future pregnancies. Abnormalities of the CNS are an important cause of fetal loss and perinatal deaths. Most of these are structural abnormalities of the CNS, however a smaller portion show changes pertaining to prematurity, infections and even congenital tumors. In this review we evaluate CNS abnormalities of the fetus and the newborn as detected in autopsy series. We also describe our experience in a tertiary care hospital with a specialized neonatology unit over the last 8 years and discuss some of the newer methods like virtual autopsy.

Recurrent Giant Cell Fibroblastoma in an Infant: A Diagnostic Challenge.

Background: Giant cell fibroblastoma (GCF) shows a wide spectrum of morphological patterns which may lead to a misdiagnosis of sarcoma. Case Report: This 14- month- old baby was referred to us for recurrent left scrotal embryonal rhabdomyosarcoma (ERMS), first diagnosed at 8 months, status post chemotherapy. Review of previous histology, cytology (with frequent multinucleated floret type giant cells but without cross striations) and immunohistochemistry resulted in the change of diagnosis to GCF. It was re-excised, recurred at 20 months of age, and was again re-excised. The morphology was the same in both recurrences as the original. Conclusion: Despite chemotherapy, the histology of multiple recurrences for GCF remained the same as the original. Cytologically, identification of the multinucleated floret like giant cells without cross striations was helpful in differentiating this lesion from embryonal rhabdomyosarcoma.

Squash cytology of clear cell meningioma: Report of a case.

Clear cell meningioma (CCM) is a rare histological variant of meningioma. It is commonly located at the cerebellopontine angle and the spine particularly around the cauda equina. Squash cytology finding of meningioma is well-established, however there is sparse literature available on squash cytology of CCM. Here we describe a case of CCM occurring in the lumbar spine in a young woman. Initially, on squash cytology a diagnosis of a low grade glioma favouring an ependymoma was considered. Eventually histopathological examination along with immunohistochemistry helped us reach the diagnosis of a CCM. In this article we discuss the cytomorphology of CCM along with its cytological differentials and the hurdles to an accurate diagnosis.

NRAS mutant melanoma arising in a giant congenital melanocytic nevus in an infant.

Pediatric melanomas are uncommon and sometimes arise in the background of giant congenital melanocytic nevus (GCMN). A 1-year-old girl was born with GCMN affecting her left half of the face and smaller nodules affecting trunk, hands, and feet. She developed an ulcerated lesion on the left temporoparietal scalp. The lesion showed features of GCMN along with large nests of a tumor composed of round cells with a vesicular nucleus, prominent nucleolus, plentiful mitoses, and areas of necrosis. Immunostaining for desmin, LCA, CD 20, CD 34, CD 99, BCL-2, and FLI1 was negative. Tumor cells showed immunopositivity for S-100 and HMB-45 confirming the diagnosis of melanoma. Immunostaining for BRAF V600E was negative; however, NRAS mutation was detected on next-generation sequencing. Unlike adult melanomas BRAF mutations are rare but NRAS mutations have been reported in pediatric melanomas. Adjunctive molecular testing will be important to understand the genetic basis of this disease and future targeted therapy.

Retiform hemangioendothelioma: An uncommon vascular neoplasm.

Retiform hemangioendothelioma is a rare vascular neoplasm of intermediate grade, the diagnosis of which can be challenging. We report a case of 35-year-old man with swelling in the postauricular region. He had undergone FNAC which had revealed blood only. Microscopic examination showed narrow, arborizing, vascular channels resembling normal rete testis. Evidence of mitoses or cytological atypia were lacking. Immunohistochemistry showed diffuse and strong staining for CD34 along with CD31 positivity. Immunostains for D240 and GLUT1 were negative. A diagnosis of retiform hemangioendothelioma was made. Histologically, it should be distinguished from Kaposiform hemangioendothelioma, Dabska tumor, epithelioid hemangioendothelioma, and angiosarcoma.

Cytological features of a renal angiomyolipoma in a child-A case report.

Angiomyolipoma (AML) earlier thought to be a hamartomatous lesion is now considered as a rare neoplasm of the kidney. A 6-year-old child presented with an abdominal mass. CT scans showed a multiloculated mass with variable attenuation raising the possibility of AML. FNAC done from the lesion also suggested possibility of AML, which was later confirmed on the histology of the resected specimen. There is sparse literature available describing the cytologic diagnosis of AML in children. Hence, we take this opportunity to describe the cytological findings of a case of pediatric renal AML.

Pulmonary blastoma in a child: Report of a case with cytological findings.

Pulmonary blastoma is an uncommon tumour. It constitutes <0.1% of all resected lung cancers. It is even more rare in children with only a few case reports describing this entity in them. Pulmonary blastoma should not be confused with pleuropulmonary blastoma which is a paediatric lung tumour with different morphology and better outcome. Here we take the opportunity of describing pulmonary blastoma in a 3 years old child along with its cytological findings.

Xanthogranulomatous pyelonephritis and renal tubulopapillary adenomas: A rare coexistence.

Xanthogranulomatous pyelonephritis is an uncommon inflammatory condition accounting for 1% of chronic pyelonephritis cases. Clinically and radiologically it mimics other renal space occupying lesions. Hence, correct preoperative diagnosis is not possible in all cases and nephrectomy is done in most patients. Renal tubulopapillary adenomas are benign epithelial lesions of kidney found to be associated with papillary renal cell carcinoma, acquired renal cystic disease, long term hemodialysis, arteriosclerotic renal vascular disease, etc. Here, we report two cases of Xanthogranulomatous pyelonephritis associated with the rare finding of renal tubulopapillary adenomas.

Congenital nasopharyngeal teratoma causing airway obstruction in the newborn.

Teratomas are the most common congenital tumors, but teratomas of the nasopharynx are rare in neonates. The present report is about an 18-day-old girl child with a nasopharyngeal teratoma protruding from the oral cavity. The tumor almost completely obstructed the airways and necessitated immediate intervention. The tumor was successfully removed by the transpalatal route. Histological examination showed that it was a mature teratoma. The case with its related differential diagnosis is discussed here.

Metastatic primary duodenal adeno-carcinoma responding to metronomic oral cyclophosphamide chemotherapy.

Primary adenocarcinoma of duodenum is a very rare tumour with a prevalence of only 0.3 to 1% of among all the tumours of gastrointestinal tracts. Localised tumours, if resected have good prognosis but those with metastates entails a poor prognosis, where generally palliation may be the only feasible option. Low dose continous cytotoxic treatment or metronomic chemotherapy prevents neoangiogenesis and chemoresistance thereby, provides excellent symptom relief and palliation in many advanced heavily pretreated solid malignancies. It offers as an affordable, less toxic therapy with moderate to good efficacy. Here we report a case of a 52 year female who, presented with history of maleana, pallor and pedal edema for last 2 months. Her performance status was poor (KPS 40) and she had enlarged left supraclavicular lymph node, palpable liver and vague mass in paraumbilical region. Upper GI endoscopy revealed large ulceroproliferative growth in the D2 segment and HPE showed moderately differentiated adenocarcinoma. CT scan revealed paratracheal and retroperitoneal lymphadenopathy and bone scan revealed vertebral metastasis. Patient received oral cyclophosphamide and hematinic and vitamin support, along with radiation to spine. There was near complete clinical response, and progression free period of about 32 weeks. Thus, single agent cyclophosphamide in the present case provided near total clinical response and prolonged period of freedom from disease progression with excellent palliation of symptoms. Hence in patient of advanced and metastatic small bowel cancer, with poor performance status metronomic therapy with single agent cyclophosphamide may provide viable option both for treatment and palliation.

Malignant acrospiroma of chest and abdominal wall treated with chemotherapy.

Acrospiroma denotes a group of benign ductal tumours of the eccrine sweat glands that may or may not be connected to the skin. Although various eccrine sweat gland tumours including benign acrospiroma are widely reviewed, malignant acrospiroma is rarely reported. Malignant acrospiroma have the propensity to recur locally and metastasizes to regional lymph nodes. The primary treatment is wide local excision with or without lymph node dissection. Local radiation is added in the presence of high risk features to reduce the risk of recurrence. We describe a case of a malignant acrospiroma involving wide areas of chest and abdominal wall with metastases to bilateral axillary lymph nodes in a 47 year old man showing minimal clinical response to combination chemotherapy and paclitaxel.