# 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.

## Key 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.