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Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation

We present a case of clear cell sarcoma (CCS) on the left large toe of an 80-year-old female. CCS, also known as “melanoma of soft parts,” is a rare soft tissue neoplasm that exhibits melanocytic differentiation. Most cases occur on the distal extremities of young female adults. CCS shares histopath...

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Autores principales: Zambrano, Regina, Moesch, John, Davis, Emily R, Heaphy, Michael R, Miller, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772106/
https://www.ncbi.nlm.nih.gov/pubmed/33391950
http://dx.doi.org/10.7759/cureus.11719
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author Zambrano, Regina
Moesch, John
Davis, Emily R
Heaphy, Michael R
Miller, Richard
author_facet Zambrano, Regina
Moesch, John
Davis, Emily R
Heaphy, Michael R
Miller, Richard
author_sort Zambrano, Regina
collection PubMed
description We present a case of clear cell sarcoma (CCS) on the left large toe of an 80-year-old female. CCS, also known as “melanoma of soft parts,” is a rare soft tissue neoplasm that exhibits melanocytic differentiation. Most cases occur on the distal extremities of young female adults. CCS shares histopathologic and immunohistochemical features with malignant melanoma that cause diagnostic difficulties distinguishing between these entities; therefore, cytogenetic studies of specific translocations are paramount in obtaining the correct diagnosis. The majority of CCS cases reveal a t(12;22)(q13;q12) EWSR1/ATF1 translocation, while a rare subset of CCS demonstrate a t(2;22) (q32:q12) EWS/CREB1 translocation. Our patient presented with a 50-year history of a nodule on the dorsum of her left large toe, with increasing size and tenderness over the past nine months. Histopathology and immunoperoxidase staining indicated CCS as a differential diagnosis. Cytogenetic analysis revealed a translocation in t(2;22) (q32;q12) resulting in the EWSR1/CREB1 gene, confirming a diagnosis of CCS. The translocation, histologic location, and long-standing clinical course exhibited in this case are exceptionally rare, and we hope to inform dermatologists of an uncommon presentation of CCS in an unexpected age group.
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spelling pubmed-77721062020-12-31 Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation Zambrano, Regina Moesch, John Davis, Emily R Heaphy, Michael R Miller, Richard Cureus Dermatology We present a case of clear cell sarcoma (CCS) on the left large toe of an 80-year-old female. CCS, also known as “melanoma of soft parts,” is a rare soft tissue neoplasm that exhibits melanocytic differentiation. Most cases occur on the distal extremities of young female adults. CCS shares histopathologic and immunohistochemical features with malignant melanoma that cause diagnostic difficulties distinguishing between these entities; therefore, cytogenetic studies of specific translocations are paramount in obtaining the correct diagnosis. The majority of CCS cases reveal a t(12;22)(q13;q12) EWSR1/ATF1 translocation, while a rare subset of CCS demonstrate a t(2;22) (q32:q12) EWS/CREB1 translocation. Our patient presented with a 50-year history of a nodule on the dorsum of her left large toe, with increasing size and tenderness over the past nine months. Histopathology and immunoperoxidase staining indicated CCS as a differential diagnosis. Cytogenetic analysis revealed a translocation in t(2;22) (q32;q12) resulting in the EWSR1/CREB1 gene, confirming a diagnosis of CCS. The translocation, histologic location, and long-standing clinical course exhibited in this case are exceptionally rare, and we hope to inform dermatologists of an uncommon presentation of CCS in an unexpected age group. Cureus 2020-11-26 /pmc/articles/PMC7772106/ /pubmed/33391950 http://dx.doi.org/10.7759/cureus.11719 Text en Copyright © 2020, Zambrano et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Zambrano, Regina
Moesch, John
Davis, Emily R
Heaphy, Michael R
Miller, Richard
Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation
title Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation
title_full Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation
title_fullStr Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation
title_full_unstemmed Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation
title_short Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation
title_sort superficial clear cell sarcoma (melanoma of soft parts) of the large toe in an 80-year-old female with a rare cytogenetic translocation
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772106/
https://www.ncbi.nlm.nih.gov/pubmed/33391950
http://dx.doi.org/10.7759/cureus.11719
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