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Biphenotypic Branchioma: A Better Name Than Ectopic Hamartomatous Thymoma for a Neoplasm with HRAS Mutation.
Thompson, Lester D R; Gagan, Jeffrey; Washington, Antoine; Miller, Rodney T; Bishop, Justin A.
Afiliación
  • Thompson LDR; Department of Pathology, Southern California Permanente Medical Group, Woodland Hills Medical Center, 5601 De Soto Avenue, Woodland Hills, CA, 91365, USA. Lester.D.Thompson@kp.org.
  • Gagan J; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Washington A; Trinity Pathology Associates, Tyler, TX, USA.
  • Miller RT; ProPath, Dallas, TX, USA.
  • Bishop JA; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Head Neck Pathol ; 14(4): 884-888, 2020 Dec.
Article en En | MEDLINE | ID: mdl-32026292
Ectopic hamartomatous thymoma is a rare neck lesion originally thought to represent a non-neoplastic hamartoma, even though thymic origin has been questioned, and there is uncertainty about whether the lesion is a neoplasm. We investigated the genetics by performing targeted next generation sequencing (NGS). Three cases were identified from the authors' consultation files. A custom, targeted NGS panel including 1385 pan-cancer-related genes was performed on all cases. Three patients included 2 males and 1 female, aged 50, 58 and 70 years, respectively (mean 59.3 years), with tumors arising in the low anterior neck. All cases showed classical histologic features of EHT, with one case showing intraductal carcinoma in association with the EHT. By targeted NGS, one case harbored a hotspot HRAS mutation (p.Gln61Lys), while the other two cases only showed non oncogenic variants. Dual mesoderm and endoderm derivation/differentiation (biphenotypic) has been previously recognized, with epithelial and myoepithelial components, and arising from the apparatus contributing to neck development (branchial apparatus). Thus, EHT has been shown to have genetic alterations in HRAS. These findings, without evidence of thymic derivation or an ectopic tissue location, strongly support that EHT is a true neoplasm. The name biphenotyic branchioma more correctly reflects the true nature of this dual mesoderm and endoderm derived tumor occurring in the lower neck.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Branquioma / Proteínas Proto-Oncogénicas p21(ras) / Neoplasias de Cabeza y Cuello Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Head Neck Pathol Asunto de la revista: NEOPLASIAS / PATOLOGIA Año: 2020 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: Branquioma / Proteínas Proto-Oncogénicas p21(ras) / Neoplasias de Cabeza y Cuello Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Head Neck Pathol Asunto de la revista: NEOPLASIAS / PATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos