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

TL;DR

A patient with neurofibromatosis type 1 developed three rare tumors, suggesting a link between the condition and inflammatory rhabdomyoblastic tumors.

Contribution

This is the first reported case of concurrent IRMT, pheochromocytoma, and pulmonary hamartoma in a patient with NF1.

Findings

The patient had a near-haploid genome in the IRMT with typical immunohistochemical features.

The case supports the theory that NF1 defects contribute to IRMT pathogenesis.

IRMT may be part of the tumor spectrum associated with neurofibromatosis type 1.

Abstract

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.

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.

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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