ArticleCancer2015
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study.
Article in Cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 68 citations in OpenAlex.
- An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed.Therapeutic advances in medical oncology · 2026Review
- Invasive breast carcinoma in a patient with PHTS: a case report.Diagnostic pathology · 2025Article
- Risk Assessment and Fertility Counseling for Hereditary Gynecological Cancer Syndromes.Cancer medicine · 2025Review
- In vivo and in vitro analysis of functional effects of the SDHD H50R variant.Endocrine-related cancer · 2025Article
- Thyroid Metastases from Breast Cancer Case Report and Literature Review.Current cancer drug targets · 2025Review
- Particles and Prejudice: Nanomedicine Approaches to Reducing Health Disparities in Endometrial Cancer.Small (Weinheim an der Bergstrasse, Germany) · 2024Review
- Early is Better: Report of a Cowden Syndrome.Global medical genetics · 2023Article
- Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.Genes · 2023Article
- Review
- Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.Orphanet journal of rare diseases · 2022Article
- Rare Hereditary Gynecological Cancer Syndromes.International journal of molecular sciences · 2022Review
- Hereditary Gynecologic Cancer Syndromes - A Narrative Review.OncoTargets and therapy · 2022Review
- Diagnosis and management of an endometrial cancer patient with Cowden syndrome.Gynecologic oncology · 2021Article
- Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.Clinical endocrinology · 2021Review
- Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms.Journal of human genetics · 2021Review
- Article
- Review
- [S3 guidelines on the diagnosis and treatment of carcinoma of the endometrium : Requirements for pathology].Der Pathologe · 2019Review
- Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer.Geburtshilfe und Frauenheilkunde · 2018Article
- Hamartoma-like lesions in the mouse retina: an animal model ofDisease models & mechanisms · 2018Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundEndometrial cancer has been recognized only recently as a major component of Cowden syndrome (CS). Germline alterations in phosphatase and tensin homolog (PTEN; PTEN_mut+), succinate dehydrogenase B/C/D (SDHB-D; SDHx_var+), and killin (KLLN_Me+) cause CS and Cowden syndrome-like (CSL) phenotypes. This study was aimed at identifying the prevalence and clinicopathologic predictors of germline PTEN_mut+, SDHx_var+, and KLLN_Me+ in CS/CSL patients presenting with endometrial cancer.
methodsPTEN and SDHB-D mutation and KLLN promoter methylation analyses were performed for 371 prospectively enrolled patients (2005-2011). PTEN protein was analyzed from patient-derived lymphoblast lines. The PTEN Cleveland Clinic (CC) score is a weighted, regression-based risk calculator giving the a priori risk for PTEN_mut+. Demographic and clinicopathologic features were correlated with the specific gene.
resultsGermline PTEN_mut+, SDHx_var+, and KLLN_Me+ were found in 7%, 9.8%, and 10.5% of informative samples, respectively. Predictors of PTEN_mut+ included an age ≤ 50 years (odds ratio [OR] for an age < 30 years, 6.1 [P = .015]; OR for an age of 30-50 years, 4.4 [P = .001]), macrocephaly (OR, 14.4; P < .001), a higher CC score (OR for a 1-U increment, 1.35; P < .001), a PTEN protein level within the lowest quartile (OR, 5.1; P = .039), and coexisting renal cancer (OR, 5.7; P = .002). KLLN_Me+ patients were on average 8 years younger than KLLN_Me- patients (44 vs 52 years, P = .018). Predictors of KLLN_Me+ were a younger age and a higher CC score. On the other hand, no clinical predictors of SDH_var+ were found.
conclusionsClinical predictors of PTEN and KLLN alterations, but not SDHx_var+, were identified. These predictors should alert the treating physician to potential heritable risk and the need for referral to genetic professionals. High-risk cancer surveillance and prophylactic surgery of the uterus may be considered for KLLN_Me+ patients similarly to PTEN_mut+ patients.
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