ArticleUrology2012
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.
Article in Urology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.European urology · 2019Pooled it
- ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).European journal of human genetics : EJHG · 2026Article
- Atypical Manifestations of Cowden Syndrome in Pediatric Patients.Diagnostics (Basel, Switzerland) · 2025Article
- Hereditary renal mass syndromes: a pictorial review.Abdominal radiology (New York) · 2025Review
- Hereditary Renal Cancer Syndromes.Medical sciences (Basel, Switzerland) · 2024Review
- Hereditary Renal Cell Carcinoma Syndromes.Hematology/oncology clinics of North America · 2023Review
- Synchronous multiple primary malignant neoplasms in breast, kidney, and bilateral thyroid: A case report.World journal of clinical cases · 2023Article
- Imaging evaluation of hereditary renal tumors: a pictorial review.Japanese journal of radiology · 2021Review
- A review on age-related cancer risks in PTEN hamartoma tumor syndrome.Clinical genetics · 2021Review
- Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.Medicines (Basel, Switzerland) · 2020Review
- Early-onset renal cell carcinoma inNPJ genomic medicine · 2020Article
- Review
- Metachronous renal cell carcinoma: an unbeatable leviathan?Annals of translational medicine · 2019Article
- Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma.Current urology reports · 2018Review
- Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.Frontiers in genetics · 2018Article
- A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Journal of genetic counseling · 2017Review
- Hereditary Renal Tumor Syndromes: Update on Diagnosis and Management.Seminars in ultrasound, CT, and MR · 2017Review
- Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome.Head and neck pathology · 2016Review
- [Hereditary renal tumors: More common than expected?].Der Pathologe · 2016Review
- Nephron-sparing surgery for multifocal and hereditary renal tumors.Current opinion in urology · 2014Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveTo formally study the prevalence and histologic classification of renal cell carcinoma (RCC) in a series of patients with PTEN hamartoma tumor syndrome (PHTS).
methodsWe evaluated prevalence of RCC within a prospectively-accrued series of 219 patients found to have pathogenic germline PTEN mutations. Clinical data including pathology reports were requested for all participants. Slides and tumor blocks were requested for central pathology re-review and immunohistochemistry (IHC) analysis.
resultsNine patients were identified with RCC. Based on Surveillance Epidemiology and End Results (SEER) data 0.28 RCC cases were expected for the group, giving an overall age-adjusted Standardized Incidence Ratio (SIR) of 31.7 (95% CI 15.4-58.1, P < 0.001) with a higher sex-adjusted SIR for females (46.7 vs 21.6 for males). Reported histology of each mutation positive patient's RCC was variable. However, on central pathology re-review of eight patients, six examined lesions were determined to be of papillary subhistology (pRCC), with the other two patients' tumors consistent with the initial report of chromophobe RCC (chRCC). IHC demonstrated complete loss of PTEN protein in all PTEN mutation positive patients' pRCCs and patchy positivity in one chRCC.
conclusionPHTS is a hereditary syndrome newly associated with pRCC, and PTEN IHC may be a helpful screening tool to identify pRCC patients with PHTS. Physicians caring for PHTS patients should note the >31-fold increased risk for RCC and have a low threshold for investigating possible RCC in patients with relevant complaints. Renal ultrasound is not sensitive for detecting pRCC and so PHTS patients should have alternate renal imaging (CT or MRI).
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