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

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS ACS Applied Bio Materials 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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