Indian Journal of Pathology and Microbiology最新文献

Background: Combined hepatocellular-cholangiocarcinoma (cHCC-CCA) is an uncommon form of primary liver carcinoma. It is heterogenous in terms of morphology, immunohistochemistry, radiology, and clinical features; making it a challenging entity for diagnosis.

Aims: The purpose of the present study was to evaluate clinicopathological characteristics of patients with cHCC-CCA.

Settings and design: Retrospective observational study.

Materials and methods: The patients diagnosed with cHCC-CC were identified from hepatic surgical specimens and were evaluated.

Statistical analysis: Survival was estimated as per Kaplan-Meier method.

Results: Out of six patients, five had undergone resection while one had liver transplant. Five were male and one was female and the mean age was 52 years. Tumor markers revealed raised serum alfa-fetoprotein and CA19.9 in four and three patients, respectively. Five of the liver specimens were cirrhotic. Diagnosis was predominantly based on tumor morphology. All cases were of Allen and Lisa type B and cHCC-CCA as per WHO (2019) classification. Stem cell features <5% were noted in two cases. Immunohistochemistry for programmed death 1/programmed death ligand 1 (PD1/PDL1) was negative in both the hepatocellular and cholangiocellular components in all six cases. Mismatch repair (MMR) protein expression was retained in two and deficient in four cases. The median follow-up after surgery was 21.3 months (range, 5-46.2 months). Five patients had intrahepatic and/or extrahepatic recurrence on follow-up after surgery. The median recurrence-free survival was estimated at 13.1 months (95% CI 5.67-20.6). Three patients had received salvage treatment. The median overall survival was estimated at 20 months (95% CI 0-45.3).

Conclusions: The present study highlights the role of morphology in the diagnosis of cHCC-CCA. The choice of locoregional and/or systemic therapy after surgery may be individualized based on the clinicopathological characteristics.

Neuroendocrine neoplasms (NEN) of the female genital tract are extremely uncommon. These tumors can be broadly divided into well differentiated (carcinoid) and poorly differentiated NEN (small cell and large cell carcinomas). Occurrence of neuroendocrine carcinomas (NECs) in ovary has rarely been reported. These high-grade malignant tumors have a fulminant clinical course with a short period of survival, even when diagnosed at an early stage. We hereby report two cases of primary neuroendocrine carcinoma of the ovary.

Abstract: Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein report a 16-year-old Indian male referred to our centre with complaints of refractory anaemia, deafness, diabetes pulmonary arterial hypertension and tricuspid regurgitation. Based on the clinical features and haematologic picture and dramatic response of anaemia to thiamine therapy the possibility of a TRMA was considered. Sequencing analysis for TRMA revealed a homozygous c.242dup (p.Tyr81Ter) mutation of the SLC19A2 gene.

Background: Early identification and diagnosis of sepsis are very important because timely and appropriate treatment can improve the survival outcomes.

Aim: The aim of this study was to explore the clinical significance of serum cystatin C level in sepsis.

Materials and methods: The levels of serum cystatin C, C-reactive protein (CRP), and procalcitonin (PCT) were measured via enzyme-linked immunosorbent assay (ELISA). The patients with sepsis were followed up for 30 days to record their survival conditions.

Results: The expression level of cystatin C was remarkably elevated in patients with sepsis compared with that in healthy controls. The serum cystatin C level was significantly correlated with the SOFA score and CRP, PCT, and creatinine levels in patients with sepsis. The patients in death group had a markedly higher level of serum cystatin C than those in survival group. The area under curve (AUC) of cystatin C for assessing the 30-day mortality rate of sepsis patients was 0.765.

Conclusion: The serum cystatin C level is elevated in patients with sepsis and it may serve as a biomarker for early diagnosis of sepsis and possess promising effects in assessing the severity of sepsis and the prognosis of patients.

Metastasis from non-mammary malignant neoplasms to the breast is rare and represents 0.2%-1.3% of all breast malignancies. Fine needle aspiration cytology (FNAC) is the first line of investigation for any breast lump and cyto-morphological appearance of primary breast malignancies is well documented. Occasionally metastasis to the breast may be the initial presentation and can masquerade clinically as primary breast malignancy. The present case describes the clinical and cytological challenges in an unusual case of ovarian carcinoma with initial presentation as breast mass, mimicking as inflammatory carcinoma. In cytology the breast lesion was initially misdiagnosed as primary breast carcinoma and subsequently diagnosed as metastatic ovarian carcinoma based on core needle biopsy findings, aberrant immuno-profile and clinical findings; thus making the complex case worthy of discussion.

We report a case of pure orbital yolk sac tumor (YST) in an 11-month-old infant, which is a rare entity. The child presented with progressive painless swelling of the right eye and on examination had proptosis, chemosis, and lid edema. Systemic examination was within normal limits. Magnetic resonance imaging (MRI) orbit revealed a lobulated heterogeneously enhancing right retroocular mass extending up to the orbital apex, displacing the optic nerve and eroding the medial orbital wall. Biopsy of the lesion revealed pure YST histology. Serum alpha-fetoprotein (AFP) was markedly raised at 76900 ng/mL. She was started on infant bleomycin etoposide cisplatin (BEP) chemotherapy protocol. There was a good clinical and radiological response. A high index of malignancy is required in young children presenting with orbital proptosis. A multidisciplinary approach and early intervention are essential to save both vision and life.

Rhinosporidiosis is a chronic granulomatous disease caused by Rhinosporidium seeberi commonly affecting nasal mucosa, conjunctiva, and urethra. Subcutaneous tumor nodule presentation is rare and often mimics as sarcoma. Such tumoral rhinosporidiosis has been reported rarely. This report describes a 60-year male who presented with a solitary, firm, nontender swelling in posterior aspect of right leg with an ulcer and mimicking clinically as soft tissue sarcoma. Histopathology was diagnostic. Surgical excision was found to be useful.