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Spindle Epithelial Tumor with Thymus-Like Differentiation (SETTLE): A Next-Generation Sequencing Study.
Stevens, Todd M; Morlote, Diana; Swensen, Jeff; Ellis, Michelle; Harada, Shuko; Spencer, Sharon; Prieto-Granada, Carlos N; Folpe, Andrew L; Gatalica, Zoran.
Afiliación
  • Stevens TM; Department of Pathology, University of Alabama at Birmingham, 3548 North Pavilion, 1802 6th Ave South, Birmingham, AL, 35249, USA. tstevens@uabmc.edu.
  • Morlote D; Department of Pathology, University of Alabama at Birmingham, 3548 North Pavilion, 1802 6th Ave South, Birmingham, AL, 35249, USA.
  • Swensen J; Caris Life Sciences, Phoenix, AZ, USA.
  • Ellis M; Caris Life Sciences, Phoenix, AZ, USA.
  • Harada S; Department of Pathology, University of Alabama at Birmingham, 3548 North Pavilion, 1802 6th Ave South, Birmingham, AL, 35249, USA.
  • Spencer S; Department of Radiation Oncology, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Prieto-Granada CN; Department of Pathology, University of Alabama at Birmingham, 3548 North Pavilion, 1802 6th Ave South, Birmingham, AL, 35249, USA.
  • Folpe AL; Department of Pathology, Mayo Clinic, Rochester, MN, USA.
  • Gatalica Z; Caris Life Sciences, Phoenix, AZ, USA.
Head Neck Pathol ; 13(2): 162-168, 2019 Jun.
Article en En | MEDLINE | ID: mdl-29736783
Spindle epithelial tumor with thymus-like differentiation (SETTLE) is a malignant biphasic neoplasm of the thyroid or neck with propensity for late metastasis. Unlike synovial sarcoma, its main morphologic mimic, SETTLE lacks synovial sarcoma-associated translocations. A single case of SETTLE has shown a KRAS mutation but to date no comprehensive next generation sequencing studies of this rare neoplasm have been undertaken. Herein, we subjected 5 well defined cases of SETTLE to direct sequence analysis of 592 genes and fusion gene analysis of 52 genes frequently rearranged in human cancers. We identified one case with two pathogenic variants in the KMT2D gene, one being in an intron splice site (c.674-1A>G) and the other being a frameshift variant (p.M2829fs). This same case also had a pathogenic nonsense variant in the KMT2C gene (p.R1237*). A second case of SETTLE carried a pathogenic NRAS missense variant, Q61R. No other molecular alterations, microsatellite instability, gene fusions or amplifications were identified.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Tiroides / Carcinoma Límite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Head Neck Pathol Asunto de la revista: NEOPLASIAS / PATOLOGIA Año: 2019 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: Neoplasias de la Tiroides / Carcinoma Límite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Head Neck Pathol Asunto de la revista: NEOPLASIAS / PATOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos