Pulmonary melanocytic nevus – A case report with a mutation analysis of common driver oncogenes

Tanaka, Miyabi; Matsumura, Mai; Okihara, Koji; Mitsui, Hideaki; Tateishi, Yoko; Umeda, Satoshi; Suzuki, Tsuyoshi; Koike, Chihiro; Kataoka, Toshiaki; Kawano, Naomi; Kojima, Yui; Osawa, Hiroyuki; Ohashi, Kenichi

doi:10.1111/pin.12850

Cited by 3 publications

(1 citation statement)

References 18 publications

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“…Some of the authors previously reported a case of pulmonary melanocytic nevus. The nevus cells of the pulmonary melanocytic nevus exhibited a BRAF V600E mutation, but no NRAS mutations were found [18]. No BRAF mutations were detected in the 9 previously reported cases of primary malignant melanoma of the lung or our case; therefore, primary malignant melanoma of the lung might be a form of de novo cancer, rather than arise from melanocytic nevus.…”

Section: Discussionmentioning

confidence: 40%

An NRAS mutation in primary malignant melanoma of the lung: a case report

et al. 2020

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Background Primary malignant melanoma of the lung (PML) is extremely rare. No precursor lesions of PML have been identified, and little is known about the genetic mutations associated with the disease. Typically, 15–20% of malignant melanomas possess NRAS gene mutations, but no cases of NRAS-mutated PML have been reported in the English literature. We present a case of PML involving an NRAS mutation. Case presentation Clinical summary A 74-year-old Japanese female presented with worsening dyspnea and was admitted to hospital. Computed tomography (CT) revealed a right lung (S10) mass and pleural dissemination. Cytology of the pleural effusion in the right lung was performed, and malignant melanoma or clear cell sarcoma was suspected. A dermatological examination and gallium scintigraphy were conducted to determine the primary tumor site, but no suspicious lesions, expect for the right lung mass, were found. After admission, CT showed complicating bilateral pneumonia, and an antibiotic drug was administered, but the pleural effusion got worse. About 2 weeks later, the patient died of respiratory failure and cardiac arrest. An autopsy was performed to determine the histological diagnosis. Autopsy findings A 26x15x20-mm black and pale yellow mass was found in the right lower lobe. Many disseminated nodules were found in the right lobe. The tumor had invaded the right diaphragm. Subcarinal lymph node metastasis was also detected. Immunohistochemically, the tumor cells exhibited positivity for S-100 and HMB45 staining. The patient was diagnosed with malignant melanoma. Sanger sequencing of the tumor detected an NRAS mutation. Conclusions We found an NRAS D54N mutation in PML, which has not been reported previously anywhere in the world. Previous reports indicated that most cases of PML can be classified into the triple-wild-type, but BRAF mutation status was only analyzed in a few cases. We should analyze the mutation patterns of PML to determine whether any subtypes other than the triple-wild-type exist. PML might be a form of de novo cancer.

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Section: Discussionmentioning

confidence: 40%

An NRAS mutation in primary malignant melanoma of the lung: a case report

et al. 2020

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Multiple pulmonary melanocytic naevi presenting as peribronchiolar nodules

et al. 2023

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Melanoma of Unknown Primary With Metastasis to the Brain: A Case Report and Review of the Literature

Rice-Canetto,

Richard,

Kim

et al. 2024

Cureus

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We present the case of a 72-year-old male found to have melanoma of unknown primary (MUP) in the lung with brain metastasis. The patient has a history of prostate cancer with radical proctectomy in 1999, hypertension with right-sided heart failure, and bilateral cataracts treated operatively. He presented to their home hospital after an unwitnessed fall, with a history of left-sided weakness. He was found to have a parietal lobe mass and two lung masses, where he was transferred to our hospital for a higher level of care. Biopsy of the lung lesion revealed melanoma, and the patient did not have any skin or mucosal foci present to indicate a primary source. We present this case in conjunction with a review of the literature. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, our review resulted in 31 MUP case reports. Data was extracted on epidemiology, clinical presentations, diagnostics, treatment, and outcomes. The mean age was 57.5 with a male-to-female ratio of 1:1.3. The greatest instances of MUP occurred in prior smokers and patients with comorbidities, accounting for 17.95% of cases each. Thirty-one percent of patients presented with a growing palpable mass, 21% with gastrointestinal symptoms, and 21% with B-symptoms. Biopsy was the diagnostic standard, and the majority of patients also underwent biomarker studies. Treatment varied widely, and many patients underwent multiple phases. Outcomes ranged from death within several months to a disease-free period of three years. Our paper highlights the complexity and nuances of diagnosing MUP and primary malignant melanoma of the lung (PMML) and calls for further investigations to improve diagnostic and therapeutic approaches for rare presentations of melanoma. Despite limitations in sample size and data heterogeneity, this study highlights the diverse presentation and disease course of MUP, necessitating further studies to optimize patient outcomes.

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Pulmonary melanocytic nevus – A case report with a mutation analysis of common driver oncogenes

Cited by 3 publications

References 18 publications

An NRAS mutation in primary malignant melanoma of the lung: a case report

An NRAS mutation in primary malignant melanoma of the lung: a case report

Multiple pulmonary melanocytic naevi presenting as peribronchiolar nodules

Melanoma of Unknown Primary With Metastasis to the Brain: A Case Report and Review of the Literature

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