Inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1: a case report-Reference-Cited by-同舟云学术

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

Published:2024-06-11 Issue:1 Volume:19 Page:
ISSN:1746-1596
Container-title:Diagnostic Pathology
language:en
Short-container-title:Diagn Pathol

Author:

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

Abstract

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.

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s13000-024-01503-3.pdf

Reference17 articles.

1. Alves Júnior SF, Zanetti G, Alves de Melo AS, et al. Neurofibromatosis type 1: state-of-the-art review with emphasis on pulmonary involvement. Respir Med. 2019;149:9–15. https://doi.org/10.1016/j.rmed.2019.01.002.

2. Garcia B, Catasus N, Ros A, et al. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered? J Med Genet. 2022;59:1017–23. https://doi.org/10.1016/j.rmed.2019.01.002.

3. Merchant W, Calonje E, Fletcher CDM. Inflammatory leiomyosarcoma: a morphological subgroup within the heterogeneous family of so-called inflammatory malignant fibrous histiocytoma. Histopathology. 1995;27:525–32. https://doi.org/10.1016/j.rmed.2019.01.002.

4. Martinez AP, Fritchie KJ, Weiss SW, et al. Histiocyte-rich rhabdomyoblastic tumor: Rhabdomyosarcoma, rhabdomyoma, or rhabdomyoblastic tumor of uncertain malignant potential? A histologically distinctive rhabdomyoblastic tumor in search of a place in the classification of skeletal muscle neoplasms. Mod Pathol. 2019;32:446–57. https://doi.org/10.1038/s41379-018-0145-0.

5. Cloutier JM, Charville GW, Mertens F, et al. Inflammatory leiomyosarcoma and histiocyte-rich rhabdomyoblastic tumor: a clinicopathological, immunohistochemical and genetic study of 13 cases, with a proposal for reclassification as inflammatory rhabdomyoblastic tumor. Mod Pathol. 2021;34:758–69. https://doi.org/10.1038/s41379-020-00703-8.