Utility of next-generation sequencing in the diagnosis of metastatic melanoma: A case report.

Autor: Turcios Escobar S; Department of Pathology, University of Illinois Hospital & Health Sciences System, Chicago, Illinois, USA., Yang R; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Nelson KC; Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Gershenwald JE; Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Tawbi H; Department of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Aung PP; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Patel SP; Department of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Torres-Cabala CA; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.; Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Jazyk: angličtina
Zdroj: Journal of cutaneous pathology [J Cutan Pathol] 2024 Sep; Vol. 51 (9), pp. 644-648. Date of Electronic Publication: 2024 May 16.
DOI: 10.1111/cup.14660
Abstrakt: During routine dermatologic examination, a 77-year-old male was noted to have a firm blue subcutaneous nodule on his right lateral upper back. His past medical history included metastatic melanoma of unknown primary involving right and left axillary lymph nodes, treated with ipilimumab/nivolumab with complete response, and subsequent primary uveal melanoma. The subcutaneous nodule was located near his previous right axillary scar for metastatic melanoma. Excision of the nodule showed a plexiform neoplasm involving mid and deep dermis composed of spindle and epithelioid atypical cells admixed with numerous melanophages. Central necrosis was present. Immunohistochemical studies revealed the tumor cells to be diffusely positive for HMB45, with retained expression of BAP1 and p16. The tumor cells were negative for PRAME, nuclear expression of β-catenin, LEF1, and BRAF V600E. Molecular studies demonstrated BAP1 and GNA11 somatic mutations, a profile different from that exhibited by his prior melanoma. Collectively, these data were interpreted as a metastasis from uveal melanoma and not a recurrence of his metastatic likely cutaneous melanoma after complete response to immunotherapy. This case emphasizes the importance of molecular studies for definitive diagnosis in challenging clinical situations, especially when there is discordance among histopathological, immunohistochemical, and molecular studies. Integration of clinical, histopathological, and molecular features is warranted.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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