SMARCB1-Deficient Pulmonary Mesenchymal Tumor Without Malignant Histological Features.

IF 2.5 4区医学 Q2 PATHOLOGY

Pathology International Pub Date : 2025-05-16 DOI:10.1111/pin.70025

Nozomi Nakajima, Kohei Fukuoka, Seshiru Nakazawa, Yoichi Ohtaki, Nozomi Matsumura, Ayako Yamazaki, Hideaki Yokoo, Akihiko Yoshida, Sumihito Nobusawa

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Abstract

Complete loss of nuclear SMARCB1 expression was originally described as a hallmark of malignant rhabdoid tumors, typically occurring in the kidney, soft tissue, and central nervous system (CNS). Generally, SMARCB1 deficiency is associated with malignant histopathological appearance, except for some rare tumors. Herein, we present a case of hitherto undescribed SMARCB1-deficient pulmonary mesenchymal tumor without rhabdoid features or malignant histopathology involving a 62-year-old male patient. Histologically, the tumor demonstrated a moderately cellular proliferation of monomorphic spindle cells arranged in short fascicles or a storiform pattern with intervening collagenous stroma. The mitotic activity was lower than that of typical SMARCB1-deficient tumors, and rhabdoid features and necrosis were absent. Nuclear SMARCB1 expression was lost, and a part of SMARCB1 was revealed to be homozygously deleted. DNA methylation analysis demonstrated that this case was not clustered with other well-known SMARCB1-deficient tumors.

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无恶性组织学特征的缺乏smarcb1的肺间充质肿瘤。

细胞核SMARCB1表达的完全缺失最初被描述为恶性横纹肌样肿瘤的标志，通常发生在肾脏、软组织和中枢神经系统（CNS）。一般来说，除了一些罕见的肿瘤外，SMARCB1缺乏与恶性组织病理表现有关。在此，我们报告一例迄今未被描述的无横纹肌样特征或恶性组织病理学的smarcb1缺陷肺间质肿瘤，涉及一名62岁男性患者。组织学上，肿瘤表现为单形梭形细胞呈短束状排列或层状排列，中间有胶原基质。有丝分裂活性低于典型smarcb1缺陷肿瘤，无横纹肌样特征和坏死。细胞核SMARCB1表达缺失，部分SMARCB1被纯合删除。DNA甲基化分析表明，该病例不与其他已知的smarcb1缺陷肿瘤聚集在一起。

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来源期刊

Pathology International 医学-病理学

CiteScore

4.50

自引率

4.50%

发文量

102

审稿时长

12 months

期刊介绍： Pathology International is the official English journal of the Japanese Society of Pathology, publishing articles of excellence in human and experimental pathology. The Journal focuses on the morphological study of the disease process and/or mechanisms. For human pathology, morphological investigation receives priority but manuscripts describing the result of any ancillary methods (cellular, chemical, immunological and molecular biological) that complement the morphology are accepted. Manuscript on experimental pathology that approach pathologenesis or mechanisms of disease processes are expected to report on the data obtained from models using cellular, biochemical, molecular biological, animal, immunological or other methods in conjunction with morphology. Manuscripts that report data on laboratory medicine (clinical pathology) without significant morphological contribution are not accepted.