Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study.

Autor: Schei-Andersen AJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Hendricks LAJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van der Post RS; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Schieving J; Radboud Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; European Reference Network Genetic Tumour Risk Syndromes (ERN GENTURIS)., Vos JR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; European Reference Network Genetic Tumour Risk Syndromes (ERN GENTURIS).
Jazyk: angličtina
Zdroj: International journal of cancer [Int J Cancer] 2024 Nov 01; Vol. 155 (9), pp. 1567-1576. Date of Electronic Publication: 2024 Jun 11.
DOI: 10.1002/ijc.35049
Abstrakt: PTEN hamartoma tumor syndrome (PHTS) has a broad clinical spectrum including various benign and malignant tumors at varying age of diagnosis. Many patients remain unrecognized, unaware of their increased cancer risk. We aimed to describe the cancer spectrum, age of onset and histopathological cancer characteristics to assess whether specific cancer characteristics could improve PHTS recognition. Genetic testing results and pathology reports were collected for patients tested for germline PTEN variants between 1997 and 2020 from the diagnostic laboratory and the Dutch nationwide pathology databank (Palga). The cancer spectrum and age of onset were assessed in patients with (PTENpos) and without (PTENneg) a germline PTEN variant. Histopathological cancer characteristics were assessed in a nested cohort. 341 PTENpos patients (56% females) and 2882 PTENneg patients (66% females) were included. PTENpos patients presented mostly with female breast (BC, 30%), endometrial (EC, 6%), thyroid (TC, 4%) or colorectal cancer (4%). PTENpos were significantly younger at cancer onset (43 vs. 47 years) and had more often (46% vs. 18%) a second BC than PTENneg. PTEN detection rates were highest for BC <40 years (9%), TC <20 years (15%) and EC <50 years (28%), and dropped to 6%, 4%, and 15% by age 60. Histopathological characteristics were similar between groups. No histopathological cancer characteristics were distinctive for PHTS. However, PTENpos were significantly younger at cancer onset. Therefore early-onset BC, EC, or TC warrants consideration of PHTS diagnostics either through a pre-screen for other PHTS features or direct germline testing.
(© 2024 The Author(s). International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.)
Databáze: MEDLINE
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