Your browser doesn't support javascript.
loading
Extrauterine epithelioid trophoblastic tumour and its somatic carcinoma mimics: short tandem repeat genotyping meets the diagnostic challenges.
Niu, Na; Ordulu, Zehra; Burak, Zeybek; Buza, Natalia; Hui, Pei.
Affiliation
  • Niu N; Department of Pathology, Center for the Precision Medicine of Trophoblastic Disease, Yale School of Medicine, New Haven, CT, USA.
  • Ordulu Z; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL, USA.
  • Burak Z; Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, University of Florida, Gainesville, FL, USA.
  • Buza N; Department of Pathology, Center for the Precision Medicine of Trophoblastic Disease, Yale School of Medicine, New Haven, CT, USA.
  • Hui P; Department of Pathology, Center for the Precision Medicine of Trophoblastic Disease, Yale School of Medicine, New Haven, CT, USA.
Histopathology ; 84(2): 325-335, 2024 Jan.
Article in En | MEDLINE | ID: mdl-37743102
ABSTRACT

AIMS:

While epithelioid trophoblastic tumour (ETT) primarily arises from the uterus, cases have been increasingly documented at extrauterine sites, originating from an ectopic gestation or presenting as a metastatic tumour, leading to the major differential diagnosis of somatic carcinoma with trophoblastic differentiation. The precise separation of a gestational trophoblastic tumour from its somatic carcinoma mimics is highly relevant and crucial for patient management and prognosis. METHODS AND

RESULTS:

We summarise the clinicopathological and molecular features of four challenging epithelioid malignancies presenting at extrauterine sites, with ETT as the main differential diagnosis. All four tumours demonstrated histological and immunohistochemical features overlapping between a somatic carcinoma and an ETT, combined with inconclusive clinical and imaging findings. Serum beta-hCG elevation was documented in two cases. Short tandem repeat (STR) genotyping was performed and was informative in all cases. The presence of a unique paternal allelic pattern in the tumour tissue confirmed the diagnosis of ETT in two cases with an initial consideration of either somatic carcinoma or suspicion of a gestational trophoblastic tumour. The presence of matching genetic profile with the patient's paired normal tissue was seen in two other cases (both initially considered as ETT), confirming their somatic origin, including one metastatic triple-negative breast carcinoma and one primary lung carcinoma.

CONCLUSIONS:

Diagnostic separation of ETT at an extrauterine site from its somatic carcinoma mimics can be difficult at the histological and immunohistochemical levels. STR genotyping offers a robust ancillary tool that precisely separates ETT from somatic carcinomas with trophoblastic differentiation.
Subject(s)
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uterine Neoplasms / Carcinoma / Gestational Trophoblastic Disease Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: Histopathology Year: 2024 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uterine Neoplasms / Carcinoma / Gestational Trophoblastic Disease Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: Histopathology Year: 2024 Document type: Article