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Spindle Cell Sarcoma of the Uterus Harboring MEIS1::NCOA1 Fusion Gene and Mimicking Endometrial Stromal Sarcoma.
Mejbel, Haider A; Harada, Shuko; Stevens, Todd M; Huang, Xiao; Netto, George J; Mackinnon, Alexander C; Al Diffalha, Sameer.
Afiliação
  • Mejbel HA; Division of Genomics Diagnostics and Bioinformatics, Molecular Genetics Pathology, 9968The University of Alabama at Birmingham, Birmingham, AL, USA.
  • Harada S; Division of Genomics Diagnostics and Bioinformatics, Molecular Genetics Pathology, 9968The University of Alabama at Birmingham, Birmingham, AL, USA.
  • Stevens TM; Department of Pathology, Division of Anatomic Pathology, 9968The University of Alabama at Birmingham, Birmingham, AL, USA.
  • Huang X; O'Neal Comprehensive Cancer Center, 189178The University of Alabama at Birmingham, Birmingham, AL, USA.
  • Netto GJ; O'Neal Comprehensive Cancer Center, 189178The University of Alabama at Birmingham, Birmingham, AL, USA.
  • Mackinnon AC; Division of Genomics Diagnostics and Bioinformatics, Molecular Genetics Pathology, 9968The University of Alabama at Birmingham, Birmingham, AL, USA.
  • Al Diffalha S; O'Neal Comprehensive Cancer Center, 189178The University of Alabama at Birmingham, Birmingham, AL, USA.
Int J Surg Pathol ; 31(2): 227-232, 2023 Apr.
Article em En | MEDLINE | ID: mdl-35477326
MEIS1::NCOA1/2 sarcomas are a newly recognized group of exceedingly rare low-grade spindle cell sarcomas that often involve the genitourinary and gynecologic tracts. Due to its deceptively low-grade morphology and the non-specific immunoprofile, these neoplasms may pose a diagnostic challenge by histologically mimicking other entities such as endometrial stromal sarcoma, smooth muscle tumor, or uterine perivascular epithelioid cell tumor (PEComa). Histologically, MEIS1::NCOA1/2 sarcomas typically show spindle cell proliferation with hyperchromatic nuclei and a generalized cytologic uniformity, arranged in short fascicles and exhibiting alternating zones of hypo- and hypercellularity. Among the previously reported cases, molecular analysis revealed the MEIS1::NCOA2 fusion as the most commonly detected fusion gene, whereas the MEIS1::NCOA1 fusion gene has been reported in only a single case that involved kidney. Herein we report the first case of uterine sarcoma harboring the MEIS1::NCOA1 fusion gene that was initially misclassified as low-grade endometrial stromal sarcoma, demonstrating its clinicopathologic features, and highlighting the essential role of molecular pathology to arrive at the accurate diagnosis that may alter disease classification and inform therapy.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Uterinas / Neoplasias do Endométrio / Sarcoma do Estroma Endometrial Limite: Female / Humans Idioma: En Revista: Int J Surg Pathol Assunto da revista: PATOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Uterinas / Neoplasias do Endométrio / Sarcoma do Estroma Endometrial Limite: Female / Humans Idioma: En Revista: Int J Surg Pathol Assunto da revista: PATOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos