Primary malignant melanoma of the lung with C-KIT mutation and SRD5A3-KIT fusion.

ABSTRACT:

Background

Primary pulmonary malignant melanoma (PMML), an exceedingly rare aggressive neoplasm originating from bronchial mucosal melanocytes, is characterized by early metastatic dissemination and high mortality. While over 95% of malignant melanomas are cutaneous in origin, fewer than 80 PMML cases have been documented globally. The molecular pathogenesis of PMML remains poorly defined, with less prior genomic studies utilizing Next-generation sequencing (NGS) reported to date.

Case presentation

A 68-year-old asymptomatic woman was referred to our institution in June 2022 after a routine health screening revealed a solitary pulmonary nodule. Chest CT demonstrated a 1.2 cm × 0.8 cm hypodense nodular opacity nodule in the posterior segment of the left upper lobe. The lesion

SUBMITTER: Shen L 

PROVIDER: S-EPMC12522767 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature