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DNA Mismatch Repair-deficient Endometrial Carcinosarcomas Portend Distinct Clinical, Morphologic, and Molecular Features Compared With Traditional Carcinosarcomas.
Segura, Sheila E; Pedra Nobre, Silvana; Hussein, Yaser R; Abu-Rustum, Nadeem R; Weigelt, Britta; Soslow, Robert A; DeLair, Deborah F.
Afiliação
  • Segura SE; Department of Pathology.
  • Pedra Nobre S; Department of Pathology.
  • Hussein YR; Morristown Medical Center, Morristown, NJ.
  • Abu-Rustum NR; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
  • Weigelt B; Department of Pathology.
  • Soslow RA; Department of Pathology.
  • DeLair DF; Department of Pathology.
Am J Surg Pathol ; 44(11): 1573-1579, 2020 11.
Article em En | MEDLINE | ID: mdl-32804882
Uterine carcinosarcomas (UCSs) are aggressive neoplasms composed of high-grade malignant epithelial and mesenchymal elements with most (∼90%) showing TP53 abnormalities. A subset, however, shows mismatch repair deficiency (MMR-D). We sought to describe their clinical, morphologic, and molecular features. Clinicopathologic data of MMR-D UCSs were recorded including age, stage, follow-up, mismatch repair and p53 immunohistochemistry (IHC), MLH1 promoter methylation status, and germline alterations, TP53 mutation status, microsatellite instability and mutational burden by massively parallel sequencing. Seventeen (6.2%) MMR-D were identified among 276 UCSs. Of MMR-D UCSs, the median age was 60 years. mismatch repair IHC loss is as follows: MLH1/PMS2 65%, MSH2/MSH6 18%, MSH6 12%, and PMS2 6%. MLH1 promoter methylation and Lynch syndrome was identified in 47% and 12% of cases, respectively. Cases with p53 IHC showed the following patterns: wild-type 70%, aberrant 20%, and equivocal 10%. Of cases with sequencing, 88% were hypermutated and microsatellite instability high. High-grade endometrioid, undifferentiated, and clear cell carcinoma was present in 53%, 41%, and 6% of cases, respectively and 47% also showed a low-grade endometrioid component. Most patients presented at an early stage (67%) and upon follow-up, 18% died of disease, 65% showed no evidence of disease, while 18% are alive with disease. Patients with MMR-D UCS are younger than the reported median age (70 y) for traditional UCS and most do not show p53 abnormalities. Low-grade endometrioid and undifferentiated carcinoma were seen in approximately half of all cases. Although UCSs have a high tendency for early extrauterine spread, most patients in our cohort presented at an early stage and at follow-up were no evidence of disease. MMR-D UCSs display distinct clinical, morphologic, and molecular features compared with traditional UCSs.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Neoplásicas Hereditárias / Neoplasias Encefálicas / Carcinossarcoma / Neoplasias Colorretais / Neoplasias do Endométrio Limite: Adult / Aged / Female / Humans / Middle aged Idioma: En Revista: Am J Surg Pathol Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Neoplásicas Hereditárias / Neoplasias Encefálicas / Carcinossarcoma / Neoplasias Colorretais / Neoplasias do Endométrio Limite: Adult / Aged / Female / Humans / Middle aged Idioma: En Revista: Am J Surg Pathol Ano de publicação: 2020 Tipo de documento: Article