中华病理学杂志最新文献

With rising incidence of thyroid cancer, the standardization of pathological reporting has become increasingly critical for precise diagnosis and treatment. The pivotal role of contemporary clinical practice guidelines in advancing the standardization of thyroid cancer pathology reports were systematically examined. It elaborates on how these guidelines provide fundamental frameworks for structured reporting protocols, unified diagnostic criteria, and the integration of molecular biomarkers, while establishing crucial connections between pathological findings and clinical decision-making. Concrete implementation strategies are proposed to enhance pathological practice, ultimately promoting the realization of personalized and precision medicine for thyroid cancer.

Objective: To investigate the clinicopathological and molecular genetic characteristics of uterine leiomyosarcoma. Methods: A retrospective study was performed on twenty-four patients diagnosed with uterine leiomyosarcoma, at Peking University, Third Hospital, from January 2023 to July 2024. The study aimed to analyze the clinicopathological characteristics of uterine leiomyosarcoma using immunohistochemistry and next generation sequence to detect the molecular genetic alterations. Results: Among the twenty-four cases, patient's age ranged from 29 to 74 years, with a median age of 45.5 (37.5, 49.3) years. Tumor size ranged from 6 to 20 cm, with an average size of 11 cm. Before surgery, sixteen patients had received hormone therapy, traditional Chinese medicine, health supplements, and/or oxytocin during surgery. Among these sixteen cases, eight cases showed morphological changes of the tumor cells, with the nature of necrosis being difficult to characterize, posing diagnostic challenges. Immunohistochemical analysis revealed positive expression of smooth muscle markers in all 24 cases. A mutant p53 expression pattern was observed in 14 cases, while loss of Rb expression was noted in 17 cases. Loss of ATRX and PTEN expression was detected in 13 and 11 cases, respectively.All twenty-four cases demonstrated microsatellite stability. Twenty-three cases showed a low tumor mutational burden (TMB), while one case showed high TMB. All cases showed variations of copy number and gene mutations involving multiple genes. The most common molecular genetic aberrations were loss of copy number or mutation in TP53 and RB1. Simultaneous genetic aberrations in both TP53 and RB1 were identified in fifteen cases. Furthermore, eleven cases showed copy number loss of BRCA2 and one case showed a missense mutation of BRCA2. Twenty-one cases revealed frequent copy number variations in homologous recombination repair-related genes, including FANCA, FANCM, RAD51B, BARD1, FANCE, ATM, CHEK2 etc. Thirteen cases showed loss of ATRX protein expression. Conclusions: Uterine leiomyosarcoma is characterized by multiple copy number variations and gene mutations, most frequently involving TP53 and RB1. Additional common molecular features include copy number variations of homologous recombination repair-related genes, ATRX protein expression loss, low tumor mutational burden, and microsatellite stability. Secondary morphological changes in uterine leiomyosarcomas associated with hormone therapy pose significant diagnostic challenges. Next generation sequencing can provide valuable evidence for the diagnosis of morphologically challenging cases of leiomyosarcoma in clinical practice.

Objective: To investigate the clinicopathological characteristics of pediatric Ewing sarcoma in the rare sites. Methods: Seven surgical resection specimens and one consultation case diagnosed at Shanghai Children's Medical Center (4 cases), Shanghai Jiaotong University, Shanghai; Zhejiang Children's Hospital (2 cases), Hangzhou and Jiangxi Children's Hospital (2 cases), Nanchang, China from January 2019 to June 2024 were collected. The tissues were subject to histological examination and immunohistochemistry using EnVision system. The fluorescence in situ hybridizations (FISH) for EWSR1::FLI1 gene fusion and EWSR1 gene-breakapart were performed. The paraffin sections were used for next-generation sequencing (NGS). Results: There were 8 pediatric patients (4 boys and 4 girls). Their ages ranged from 7 to 14 years, with a median age of 12.5 (10.0, 13.5) years. The tumors were located in the right submandibular gland (1 case), tail of the pancreas (1 case), prostate (1 case), small intestine (1 case), nasal vestibule (1 case), adrenal gland (1 case), and right kidney (2 cases). Histologically, the tumors showed relatively uniform small round cells with an invasive growth pattern. The adamantinoma-like Ewing sarcoma occurring in the right submandibular gland had obvious characteristics of epithelial differentiation. Immunohistochemistry showed diffuse positivity for CD99, NKX2.2 in most tumors, partial or diffuse positive for epithelial and neuroendocrine markers in some cases, as well as complete negativity for desmin in all tumors. Molecular genetic study showed EWSR1 gene translocation and FUS::FLI1 gene fusion using FISH and NGS. All cases underwent chemotherapy or adjuvant radiotherapy. The follow-up for 10 to 44 months found that two patients were dead, one had recurrence and the others were free of disease. Conclusions: Extraskeletal Ewing sarcoma is rare. Careful histologic evaluation supplemented by immunophenotyping and molecular studies facilitates its diagnosis and differential diagnosis.