Primary malignant melanoma of the lung: a case report and literature review

Deng, Shuangshuang; Sun, Xiaobo; Zhu, Zhen; Lu, Jingjing; Wen, Gen; Chang, Xu; Gao, Hui; Hua, Yanfei; Wang, Lumei; Gao, Jinli

doi:10.1186/s12890-020-1140-z

Cited by 14 publications

(16 citation statements)

References 19 publications

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“…Close inspection for the primary lesion at the skin, esophagus, oral cavity, pharynx, larynx, trachea, anus and external genital organs did not reveal any relevant lesions. Thus, this case was most likely rare lung MM (11), although it was not possible to exclude the possibility of MM with an undetected or diminished primary nest.…”

Section: Resultsmentioning

confidence: 93%

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study

et al. 2021

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Collagen type XVII α1 (COL17A1) encodes a hemidesmosomal protein at the epidermal-dermal junction and its variants are implicated in blistering skin diseases. Recent experiments in rodents revealed that Col17a1 has critical roles in stem cells of epidermal origin and in melanoma carcinogenesis. In the present study, it was investigated whether germline variants in COL17A1 are associated with skin cancer and other cancer types using indexed consecutive autopsy cases from the Japanese Geriatric Single Nucleotide Polymorphism database (n=2,343; mean age, 80 years). The database included 12 patients with skin cancer. A total of 53 COL17A1 missense variants on an exome chip were analyzed. One variant, p.Ser1029Ala (rs118166857), which had a minor allele frequency of 1.0%, exhibited a nominal positive sign of association with skin cancer [Fisher's exact P=0.002, odds ratio (OR)=16.93, 95% CI: 4.44-64.64]. This variant was detected in 2/2 patients with mucosal malignant melanoma (mMM) and 1/3 patients with extramammary Paget's disease, and in none of the patients with non-melanoma cancer, e.g., squamous cell and basal cell carcinoma. Other cancer types were searched in the database and the p.Ser1029Ala variant was indicated to be nominally associated with breast cancer (P=0.006, OR=4.17, 95% CI: 1.72-10.11). In the two mMM cases, targeted exome sequencing of 55 cancer-predisposing genes (including tumor protein 53, BRCA1/2 and mismatch repair genes) detected no apparent pathogenic variants, but revealed variants of unknown significance in axin 2, DNA directed polymerase ζ catalytic subunit and contactin 6. Since COL17A1 provides a niche for melanocyte stem cells, it was hypothesized that the p.Ser1029Ala variant in the COL17A1 ectodomain may affect the microenvironment, e.g., the cell competition. This is a working hypothesis generated from human autopsy cases and warrants further epidemiological and molecular biological validation.

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Section: Resultsmentioning

confidence: 93%

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study

et al. 2021

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“…IHC staining is helpful for the differential diagnosis of PMML. Currently, with the in-depth study of the molecular biological characteristics and genetic variation of melanoma, targeted immunotherapy may further benefit clinical treatment and has broad prospects[ 12 - 23 ].…”

Section: Discussionmentioning

confidence: 99%

Primary pulmonary malignant melanoma diagnosed with percutaneous biopsy tissue: A case report

Xi¹,

Huang²,

Xi³

et al. 2020

WJCC

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BACKGROUND Primary malignant melanoma of the lung (PMML) is a rare and highly malignant tumor with a poor prognosis. Here, we report a PMML case diagnosed by computed tomography (CT)-guided percutaneous biopsy, describe its pathological features and review relevant literature to improve our understanding of this tumor. CASE SUMMARY A 64-year-old Chinese female presented with productive cough for 7 mo. A chest CT scan showed a large and space-occupying lesion in Lingual lobe. Positron emission tomography-CT revealed multiple nodules located in the superior lobe apicoposterior segment of her left lung. Brain magnetic resonance imaging showed numerous enhancing nodules, suggesting brain metastasis. Abdominal CT scan did not show any abnormalities. By CT-guided percutaneous biopsy, four pieces of gray and taupe tissues (1 cm length and 0.1 mm in diameter) were obtained. After pathologic examination, the tumor was found to consist of epidermal and nested small round cells, fibrosis and thin-walled blood vessels. The finding was suggestive of malignant melanoma. To confirm the diagnosis, pathological morphology and immunophenotypic features of the biopsy specimens were observed. The patient denied any history of skin tumors. No abnormal lesions were detected in other sites of the body. Molecular testing was positive for wild-type EGFR and KIT gene mutations. Finally, the clinical and pathological findings suggested PMML. CONCLUSION PMML is very rare, and the percutaneous biopsy tissue is limited. Therefore, comprehensive consideration of histology, immunohistochemistry, imaging, and clinical information is important for the diagnosis of PMML.

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“…Lobectomy or pneumonectomy with lymph node dissection is the main treatment for localized pulmonary malignant melanoma [11,16,17]. Different types of chemotherapy and immunotherapy as well as radiotherapy have been attempted for MM patients, but no postoperative adjuvant therapy has a good effect on PPMM patients [11,18].…”

Section: Discussionmentioning

confidence: 99%

Concurrence of primary pulmonary malignant melanoma with invasive pulmonary adenocarcinoma: a case report

Yang

Lei

Zhang

et al. 2020

J Cardiothorac Surg

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Background: Primary pulmonary malignant melanoma (PPMM) is an extreme rarity in clinic practice, accounting for only 0.01% of all primary pulmonary tumors. And its diagnosis should meet clinical and pathological diagnosis criteria in addition to excluding the possibility of metastatic melanoma. The mainstay of treatment is surgery. The concurrence of primary pulmonary malignant melanoma and invasive pulmonary adenocarcinoma has not been reported before. Case presentation: Herein we report the case of a 39-year-old woman who was asymptomatic and accidently found to have the concurrence of PPMM with invasive pulmonary adenocarcinoma. Before considering the diagnosis of primary pulmonary malignant melanoma, a systemic positron emission tomography-computed tomography (PET-CT) was done to excluding primary tumor metastasis from other sites. The pathological biopsy proved that two lesions in the right middle lobe were invasive pulmonary adenocarcinomas and the mass in the right lower lobe was malignant melanoma. She underwent right middle and lower lobectomy of the lung with mediastinal and hilar lymph dissection. She refused adjuvant chemotherapy, genetic molecular testing or immunotherapy. Fifteen months later she had brain metastasis. Then she received brain radiotherapy and underwent follow-up at the outpatient clinic regularly. Conclusions: We experienced a case of concurrent PPMM and invasive pulmonary adenocarcinoma. The patient reported here is the first case of primary pulmonary malignant melanoma combined with invasive pulmonary adenocarcinoma. This patient remained disease-free 15 months after lung surgery.

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Primary malignant melanoma of the lung: a case report and literature review

Cited by 14 publications

References 19 publications

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study

Primary pulmonary malignant melanoma diagnosed with percutaneous biopsy tissue: A case report

Concurrence of primary pulmonary malignant melanoma with invasive pulmonary adenocarcinoma: a case report

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