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

التفاصيل البيبلوغرافية
العنوان:	Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study
المؤلفون:	Schei-Andersen, A.J.S.A., Hendricks, L.A.J., Post, R.S. van der, Mensenkamp, A.R., Schieving, J.H., Schuurs-Hoeijmakers, J.H.M., Hoogerbrugge, N., Vos, J.R.
المصدر:	International Journal of Cancer, 155, 9, pp. 1567-1576
سنة النشر:	2024
المجموعة:	Radboud University: DSpace
مصطلحات موضوعية:	Human Genetics - Radboud University Medical Center, Human Genetics - Radboud University Medical Center - DCMN, Paediatrics - Radboud University Medical Center - DCMN, Pathology - Radboud University Medical Center
الوصف:	Contains fulltext : 314645.pdf (Publisher’s version ) (Open Access) ; 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.
نوع الوثيقة:	article in journal/newspaper
اللغة:	unknown
Relation:	https://repository.ubn.ru.nl//bitstream/handle/2066/314645/314645.pdf; https://hdl.handle.net/2066/314645
DOI:	10.1002/ijc.35049
الاتاحة:	https://hdl.handle.net/2066/314645 https://repository.ubn.ru.nl//bitstream/handle/2066/314645/314645.pdf https://doi.org/10.1002/ijc.35049
رقم الانضمام:	edsbas.C11623B9
قاعدة البيانات:	BASE

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