{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:57:37Z","timestamp":1747184257991,"version":"3.40.5"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T00:00:00Z","timestamp":1691712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Granular cell tumor (GCT) is a S100+ neoplasm with atypical and malignant variants. Similar to melanocytic neoplasms, the tumors make nests and can have junctional components raising a differential diagnosis of melanoma. Nevi and melanomas may also have granular cell cytoplasm. MelanA is useful in distinguishing melanocytic from granular cell lineage, but increasingly MelanA\/SOX10 negative melanomas have been recognized by correlation with molecular methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We encountered several cases with morphologic overlap between melanoma and atypical GCT necessitating additional molecular workup. We sequenced two cases and searched our archive for similar cases of GCT with overlapping features of melanocytic lineage.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our two index cases, we excluded melanoma driver mutations and identified frameshift or premature stop codons in <jats:italic>ATP6AP1\/2<\/jats:italic> pathognomonic of granular cell lineage. Data retrieved from Cosmic identified 24 melanomas with missense single nucleotide variants (SNVs) in <jats:italic>ATP6AP1<\/jats:italic> but no frameshift or premature stop codons. Twenty\u2010one melanomas had missense SNVs in <jats:italic>ATP6AP2<\/jats:italic>. One melanoma had a premature stop codon in <jats:italic>ATP6AP2<\/jats:italic>, but this lesion also had a melanoma\u2010associated driver mutation NRASQ61K. We found 1 of 23 additional cases of GCT in our archives with a junctional component and no additional cases with maturation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Atypical and malignant GCT can have histopathologic overlap with melanoma. Frameshift and premature stop codons in <jats:italic>ATP6AP1\/2<\/jats:italic> are specific for granular cell lineage, and capable of excluding melanoma, in the absence of known melanoma\u2010associated driver mutations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cup.14503","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T10:09:53Z","timestamp":1691748593000},"page":"1014-1019","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Utility of sequencing for <scp>ATP6AP1<\/scp> and <scp>ATP6AP2<\/scp> to distinguish between atypical granular cell tumor with junctional component and melanoma"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4802-2770","authenticated-orcid":false,"given":"Simon J.","family":"Warren","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Dermatology Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3776-5053","authenticated-orcid":false,"given":"Ahmed K.","family":"Alomari","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Dermatology Indiana University School of Medicine  Indianapolis Indiana 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