Inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1: a case report.

IF 2.4 3区医学 Q2 PATHOLOGY Diagnostic Pathology Pub Date : 2024-06-11 DOI:10.1186/s13000-024-01503-3

Otto Jokelainen, Heidi Myllykangas, Katri Rajala, Jarkko Marttila, Reijo Sironen

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Abstract

Background: Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent inflammatory rhabdomyoblastic tumor (IRMT), adrenal pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1 (NF1). To our knowledge, this is the first time that this constellation of tumors has been described in the literature.

Case presentation: A female patient in her late 20s with known NF1 was diagnosed with an inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a short succession. IRMT was found to harbor a near-haploid genome and displayed a typical immunohistochemical profile as well as a focal aberrant p53 expression pattern.

Conclusions: This case report strengthens the theory that defects in the tumor suppressor NF1 play a central role in the pathogenesis of inflammatory rhabdomyoblastic tumors and that IRMT may be part of the spectrum of neurofibromatosis type 1 related tumors.

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一名神经纤维瘤病 1 型患者的炎性横纹肌母细胞瘤、嗜铬细胞瘤和肺火腿肠瘤：病例报告。

背景：炎性横纹肌母细胞瘤是最近才被发现的恶性程度较低的软组织肿瘤。这里，我们介绍了一例神经纤维瘤病 1 型（NF1）患者同时患有炎性横纹肌母细胞瘤（IRMT）、肾上腺嗜铬细胞瘤和肺火腿肠瘤的病例。据我们所知，这是文献中首次描述这种肿瘤组合：病例介绍：一名 20 多岁的女性患者，已知患有 NF1，在短时间内接连被诊断出患有炎性横纹肌母细胞瘤、嗜铬细胞瘤和肺火腿肠瘤。研究发现，IRMT的基因组接近单倍体，具有典型的免疫组化特征和局灶性p53异常表达模式：本病例报告加强了肿瘤抑制因子NF1缺陷在炎性横纹肌母细胞瘤发病机制中起核心作用的理论，IRMT可能是神经纤维瘤病1型相关肿瘤的一部分。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Diagnostic Pathology 医学-病理学

CiteScore

4.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Diagnostic Pathology is an open access, peer-reviewed, online journal that considers research in surgical and clinical pathology, immunology, and biology, with a special focus on cutting-edge approaches in diagnostic pathology and tissue-based therapy. The journal covers all aspects of surgical pathology, including classic diagnostic pathology, prognosis-related diagnosis (tumor stages, prognosis markers, such as MIB-percentage, hormone receptors, etc.), and therapy-related findings. The journal also focuses on the technological aspects of pathology, including molecular biology techniques, morphometry aspects (stereology, DNA analysis, syntactic structure analysis), communication aspects (telecommunication, virtual microscopy, virtual pathology institutions, etc.), and electronic education and quality assurance (for example interactive publication, on-line references with automated updating, etc.).