Malignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review

BackgroundMelanoma has a wide range of histologic variants and cytomorphologic features that make its diagnosis challenging. Melanoma can also rarely have neuroendocrine markers adding further diagnostic uncertainty particularly given that unrelated tumor types, such as prostate cancer, can also dis...

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Autores principales:	Jason Cham, Ayal Shavit, Aren Ebrahimi, Miguel Viray, Paul Gibbs, Munveer S. Bhangoo
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	small cell carcinoma malignant melanoma neuroendocrine differentiation checkpoint inhibitor synaptophysin genomics Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/5df484e4c2ba4f82b8daef6c02eb2f9d
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spelling	oai:doaj.org-article:5df484e4c2ba4f82b8daef6c02eb2f9d2021-12-01T22:20:47ZMalignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review2234-943X10.3389/fonc.2021.763992https://doaj.org/article/5df484e4c2ba4f82b8daef6c02eb2f9d2021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fonc.2021.763992/fullhttps://doaj.org/toc/2234-943XBackgroundMelanoma has a wide range of histologic variants and cytomorphologic features that make its diagnosis challenging. Melanoma can also rarely have neuroendocrine markers adding further diagnostic uncertainty particularly given that unrelated tumor types, such as prostate cancer, can also display focal neuroendocrine differentiations.Case presentationOur patient is a 74-year-old Caucasian man found to have a lung mass. Initial biopsy revealed typical microscopic morphology and neuroendocrine differentiation consistent with small cell carcinoma. Despite standard chemoradiation treatment, the patient continued to progress with new metastasis in the brain, liver and bone. Subsequent chest wall biopsy revealed golden-brown pigment associated with melanin. Further tumor immunohistochemistry revealed extensive neuroendocrine differentiation with CD56, synaptophysin, and INSM1, as well as strong immunoreactivity for melanocyte markers including SOX10, S100, PRAME, and MITF, consistent with metastatic melanoma with neuroendocrine differentiation. Genomic testing revealed increased tumor mutational burden and alterations in NF1, BRAF, CDKN2A/B, TERT. The patient was transitioned to checkpoint inhibitor therapy with nivolumab and ipilimumab and had resolution of his intracranial mass and decrease in size of other metastatic lesions.ConclusionOften the combination of anatomic findings such as a lung mass, typical microscopic morphology, and confirmation of neuroendocrine differentiation correctly identifies a patient with small cell carcinoma. However, in a patient who fails to respond to treatment, a broader immunohistochemical workup along with molecular testing with additional tissue may be warranted.Jason ChamAyal ShavitAren EbrahimiMiguel VirayPaul GibbsMunveer S. BhangooFrontiers Media S.A.articlesmall cell carcinomamalignant melanomaneuroendocrine differentiationcheckpoint inhibitorsynaptophysingenomicsNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENFrontiers in Oncology, Vol 11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	small cell carcinoma malignant melanoma neuroendocrine differentiation checkpoint inhibitor synaptophysin genomics Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	small cell carcinoma malignant melanoma neuroendocrine differentiation checkpoint inhibitor synaptophysin genomics Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Jason Cham Ayal Shavit Aren Ebrahimi Miguel Viray Paul Gibbs Munveer S. Bhangoo Malignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review
description	BackgroundMelanoma has a wide range of histologic variants and cytomorphologic features that make its diagnosis challenging. Melanoma can also rarely have neuroendocrine markers adding further diagnostic uncertainty particularly given that unrelated tumor types, such as prostate cancer, can also display focal neuroendocrine differentiations.Case presentationOur patient is a 74-year-old Caucasian man found to have a lung mass. Initial biopsy revealed typical microscopic morphology and neuroendocrine differentiation consistent with small cell carcinoma. Despite standard chemoradiation treatment, the patient continued to progress with new metastasis in the brain, liver and bone. Subsequent chest wall biopsy revealed golden-brown pigment associated with melanin. Further tumor immunohistochemistry revealed extensive neuroendocrine differentiation with CD56, synaptophysin, and INSM1, as well as strong immunoreactivity for melanocyte markers including SOX10, S100, PRAME, and MITF, consistent with metastatic melanoma with neuroendocrine differentiation. Genomic testing revealed increased tumor mutational burden and alterations in NF1, BRAF, CDKN2A/B, TERT. The patient was transitioned to checkpoint inhibitor therapy with nivolumab and ipilimumab and had resolution of his intracranial mass and decrease in size of other metastatic lesions.ConclusionOften the combination of anatomic findings such as a lung mass, typical microscopic morphology, and confirmation of neuroendocrine differentiation correctly identifies a patient with small cell carcinoma. However, in a patient who fails to respond to treatment, a broader immunohistochemical workup along with molecular testing with additional tissue may be warranted.
format	article
author	Jason Cham Ayal Shavit Aren Ebrahimi Miguel Viray Paul Gibbs Munveer S. Bhangoo
author_facet	Jason Cham Ayal Shavit Aren Ebrahimi Miguel Viray Paul Gibbs Munveer S. Bhangoo
author_sort	Jason Cham
title	Malignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review
title_short	Malignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review
title_full	Malignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review
title_fullStr	Malignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review
title_full_unstemmed	Malignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review
title_sort	malignant melanoma with neuroendocrine differentiation: a case report and literature review
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/5df484e4c2ba4f82b8daef6c02eb2f9d
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Malignant Melanoma With Neuroendocrine Differentiation: A Case Report and Literature Review

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