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Poroid adnexal skin tumors with YAP1 fusions exhibit similar histopathologic features: A series of six YAP1-rearranged adnexal skin tumors.
Prieto-Granada, Carlos; Morlote, Diana; Pavlidakey, Peter; Rodriguez-Waitkus, Paul; Ramirez, Cristina; Florento, Elena; Swensen, Jeffrey; Gatalica, Zoran; Stevens, Todd M.
Afiliación
  • Prieto-Granada C; Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Morlote D; Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Pavlidakey P; Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Rodriguez-Waitkus P; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Ramirez C; Department of Dermatology and Cutaneous Surgery, University of South Florida Morsani College of Medicine, Tampa, Florida, USA.
  • Florento E; Caris Life Sciences, Phoenix, Arizona, USA.
  • Swensen J; Caris Life Sciences, Phoenix, Arizona, USA.
  • Gatalica Z; Caris Life Sciences, Phoenix, Arizona, USA.
  • Stevens TM; The Oklahoma University Health Sciences Center, Oklahoma City, Oklahoma, USA.
J Cutan Pathol ; 48(9): 1139-1149, 2021 Sep.
Article en En | MEDLINE | ID: mdl-33704800
BACKGROUND: Adnexal skin tumors are diagnostically challenging with few known molecular signatures. Recently, however, YAP1-MAML2 and YAP1-NUTM1 fusions were identified in poroid adnexal skin tumors. METHODS: Herein, we subjected eight poroid adnexal skin tumors (three poromas and five porocarcinomas) to fusion gene analysis by whole transcriptome sequencing and next-generation DNA sequencing analysis. RESULTS: YAP1 fusions were identified in six cases. YAP1-NUTM1 fusions were identified in two poromas and three porocarcinomas. A single case of porocarcinoma harbored a YAP1-MAML2 fusion. Two cases were negative for gene fusion. All cases that harbored YAP1-NUTM1 fusions showed nuclear protein in testis (NUT) expression by immunohistochemistry, with NUT being negative in the YAP1-MAML2-positive case. In this case series, we provide a detailed histopathologic description of six YAP1-fused poroid skin tumors, which we show harbor reproducible histopathologic features, to include broad, bulbous tumor tongues with admixtures of basaloid, poroid cells punctuated by squamatized cuticles and ductules, with uniform tumor nuclei featuring frequent grooves and pseudonuclear inclusions. CONCLUSIONS: Awareness of the characteristic histopathologic features of YAP1-fused poroid adnexal skin tumor is a step toward a more reproducible classification of adnexal skin tumors as well as a step toward targeted therapy for metastatic and/or unresectable examples of this poroid group of neoplasms.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Reordenamiento Génico / Fusión Génica / Poroma / Porocarcinoma Ecrino Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: J Cutan Pathol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Reordenamiento Génico / Fusión Génica / Poroma / Porocarcinoma Ecrino Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: J Cutan Pathol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos