Rare Coagulopathies in Hematologic Spotlight: Isolated Factor V Deficiency and Combined Factor V and VIII Deficiency.

Rare coagulation disorders pose significant diagnostic challenges emphasizing the importance of clinical vigilance and meticulous hemostatic workup for accurate diagnosis and timely management. We present two cases of exceptionally uncommon coagulopathies - isolated factor V deficiency (F5D) and combined factor V and VIII deficiency (F5F8D). Case 1 features a 24-year-old woman incidentally diagnosed with severe F5D during routine preoperative evaluation for an ovarian cyst. Despite the absence of any reported bleeding manifestations, a timely and accurate diagnosis was rendered. Perioperative management with fresh frozen plasma and postoperative monitoring ensured favorable surgical outcomes. Case 2 features a 10-year-old male presenting with prolonged gum bleeding. Following systematic hemostatic workup, a diagnosis of F5F8D was rendered, thereby guiding optimal therapeutic interventions. We herein aim to contribute valuable insights into the understanding of coagulation physiology and the diagnostic intricacies and management strategies of rare coagulation disorders.

The Difficulties and Ease of Diagnosing Anaplastic Large Cell Lymphomas on Cytology.

Introduction and Objectives: Anaplastic large cell lymphoma (ALCL), a unique non-Hodgkin lymphoma (NHL), is a CD30-positive neoplasm of T-cell lineage. Its distinctive yet variable cytomorphology makes diagnosing fine needle aspiration cytology (FNAC) challenging. This study was undertaken to study the cytomorphology and the utility of immunocytochemical (ICC) stains on cytology in ALCL and to discuss their morphological differential diagnosis. Materials and Methods: The present study was conducted in the Department of Pathology of a tertiary care center. A retrospective review was done from January 2017 to July 2022, and all histopathologically and immunohistochemically (IHC) diagnosed cases of ALCL were taken and correlated with the cytological diagnosis. Results: Twenty-one cases of histopathology examination and IHC-proven cases of ALCL were retrieved from the departmental archives and reviewed. The ages ranged from 3 to 80 years (median age 28 years). Commonly noted cytomorphologic features included singly dispersed large pleomorphic cells, hallmark cells, and Reed-Sternberg-like cells. CD15, CD30, epithelial membrane antigen, and anaplastic lymphoma kinase-1 were some of the ICC stains used in this study. All 21 cases had cytology correlation. Fourteen cases had concordant cyto-histological correlation. Seven cases of histopathologically proven ALCL were reported as Hodgkin lymphoma (HL) in three, ALCL/anaplastic diffuse large B-cell lymphoma, HL/ALCL, poorly differentiated carcinoma, and NHL in one case each on cytology. Conclusion: ALCL has a reasonably distinct cytomorphologic appearance and ICC staining pattern, and a careful interpretation of both helps arrive at a reliable FNAC diagnosis.

Extragonadal Germ Cell Tumors: A Single Institution Experience with Clinicopathological Correlation.

Background. Extragonadal germ cell tumors (EGCTs) are a rare heterogeneous group of tumors without evidence of primary gonadal germ cell tumors. They account for 2%-5% of overall malignancies. EGCTs are often not clinically suspected, making them challenging for pathologists. In this retrospective observational study, we describe our institutional experience among EGCTs with clinicopathological correlation. Materials and methods. All patients diagnosed as EGCTs from January 2014 to April 2023 were collected. All relevant clinical data and serum markers were retrieved from hospital medical records. Histopathology and immunohistochemistry slides were reviewed. Results. The present study included a total of 56 patients; 34 (60%) men and 22 (40%) women with a men-to-women ratio of 1.5:1. Of them, 1 patient had congenital/neonatal EGCTs, 21 patients had prepubertal EGCTs, and 34 had post-pubertal EGCTs. The common sites included are mediastinum (45%), sacrococcyx (18%), retroperitoneum (14%), and central nervous system (12%). The other rare sites were the vagina, liver, colon, and duodenum. The common germ cell tumor included mature teratoma (34%), mixed germ cell tumor (27%), seminoma/germinoma (12%), pure yolk sac tumor (11%), immature teratoma (9%), mature teratoma with somatic tumor (5%), and embryonal carcinoma (2%). All histological diagnoses of germ cell tumors were confirmed with IHC markers like PLAP, CD117 (KIT), AFP, LIN28, CD30, and ß-hCG. Pre and posttreatment serum tumor marker levels were available in 37 patients. All our treated patients had a decrease or normal tumor marker levels post-therapy. Conclusion. In our study, a heterogeneous group of germ cell tumors was seen. Most of them were seen in post-pubertal adolescents and young adults. Early intervention by platinum-based combination chemotherapy in seminoma and nonseminomatous germ cell tumors has significantly improved the prognosis of malignant EGCTs similar to their germ cell counterparts.

Primary Pediatric Yolk Sac Tumor of Liver With Lung Metastasis: An Unusual Presentation With Diagnosis Aided by LIN28 Immunohistochemistry.

Yolk sac tumor is a malignant germ cell tumor, which typically occurs in the gonads with elevated serum alpha-fetoprotein (AFP). Among extragonadal sites, the liver is an uncommon location for primary pediatric yolk sac tumors. Other common hepatic tumors in this age group presenting with elevated serum AFP like hepatoblastoma and hepatocellular carcinoma must be differentiated from yolk sac tumors for initiating appropriate treatment and accurate prognostication. Lung metastasis with refractoriness to chemotherapy is an extraordinary presentation that has never been documented in the literature. We report our experience with a 2-year-old female child initially misdiagnosed as hepatoblastoma. It was found that LIN28 positivity by immunohistochemistry aided in confirmation of the histopathological diagnosis of primary yolk sac tumor of the liver.

Disseminated rhinosporidiosis masquerading as soft tissue round cell tumour diagnosed by fine needle aspiration cytology.

Rhinosporidium seeberi belongs to the eukaryotic class Mesomycetozoea and causes chronic granulomatous lesions known as rhinosporidiosis. Rhinosporidiosis frequently involves the nasal cavity and nasopharynx through transepithelial invasion. Atypical presentations of this disease at other body sites have been reported, including the subcutis, visceral organs, bones, and genitals. Only a few cases of cutaneous and subcutaneous involvement have been reported to date. This chronic granulomatous condition is known for its recurrence following autoinoculation unless the correct diagnosis and appropriate treatment are given. We describe a case of an immunocompetent adult who had undergone fine needle aspiration cytology (FNAC) of mass-like swellings in the right thigh and right calf at another healthcare centre and had been diagnosed with a small round blue cell tumour. FNAC at our centre confirmed a rare case of rhinosporidiosis that was clinically mimicking a soft tissue neoplasm of the lower extremity, and the erroneous interpretation of the prior cytology studies had resulted in misinterpretation of the individually dispersed pathogenic organisms as individual malignant cells. FNAC of rhinosporidiosis can lead to early diagnosis and prompt treatment of this pathogen when it presents at unanticipated body sites.