ArticleEuropean journal of human genetics : EJHG2011
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
84 citing papers in PubMed, 3 syntheses or guidelines pooled it, 174 citations in OpenAlex.
- The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.International journal of molecular sciences · 2024Pooled it
- Abnormalities of pubertal development and gonadal function in Noonan syndrome.Frontiers in endocrinology · 2023Pooled it
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- Clinical consensus guidelines for the management of Noonan syndrome in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- The Diverse Clinical Spectrum of Noonan Syndrome in Pediatric Endocrinology: From Classical to Atypical Phenotypes.Journal of clinical medicine · 2026Article
- Cranial pathologies in Noonan syndrome: clinical implications for pre-growth hormone neuroimaging.European journal of pediatrics · 2026Article
- Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.The Journal of clinical endocrinology and metabolism · 2026Article
- Long-term effectiveness and safety of daily growth hormone therapy in Japanese children with Noonan syndrome: a post-marketing surveillance study.Endocrine journal · 2026Article
- Noonan Syndrome, Cancer Risk, and Growth Hormone TreatmentJournal of clinical research in pediatric endocrinology · 2025Review
- Detection of Targetable Genetic Abnormalities in Neuroblastoma Circulating Tumour DNA.International journal of molecular sciences · 2025Article
- A Novel Approach to Prognostic Factors and Risk Stratification in Pediatric AML: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report.Head and neck pathology · 2025Article
- Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies.Scientific reports · 2025Article
- Risk of malignancy in adult patients with congenital heart disease: a clinical practice review.Cardiovascular diagnosis and therapy · 2025Review
- Activity of trametinib as maintenance therapy after allogeneic hematopoietic stem cell transplantation in patients with relapsed or refractory RAS pathway-mutated hematologic malignancies.Annals of hematology · 2025Article
- Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study.Hormone research in paediatrics · 2025Observational
- GH Therapy in Non-Growth Hormone-Deficient Children.Children (Basel, Switzerland) · 2024Review
- Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.Children (Basel, Switzerland) · 2024Article
- Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome.NPJ precision oncology · 2024Article
- Review
24 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Noonan syndrome (NS) is characterized by short stature, facial dysmorphisms and congenital heart defects. PTPN11 mutations are the most common cause of NS. Patients with NS have a predisposition for leukemia and certain solid tumors. Data on the incidence of malignancies in NS are lacking. Our objective was to estimate the cancer risk and spectrum in patients with NS carrying a PTPN11 mutation. In addition, we have investigated whether specific PTPN11 mutations result in an increased malignancy risk. We have performed a cohort study among 297 Dutch NS patients with a PTPN11 mutation (mean age 18 years). The cancer histories were collected from the referral forms for DNA diagnostics, and by consulting the Dutch national registry of pathology and the Netherlands Cancer Registry. The reported frequencies of cancer among NS patients were compared with the expected frequencies using population-based incidence rates. In total, 12 patients with NS developed a malignancy, providing a cumulative risk for developing cancer of 23% (95% confidence interval (CI), 8-38%) up to age 55 years, which represents a 3.5-fold (95% CI, 2.0-5.9) increased risk compared with that in the general population. Hematological malignancies occurred most frequently. Two malignancies, not previously observed in NS, were found: a malignant mastocytosis and malignant epithelioid angiosarcoma. No correlation was found between specific PTPN11 mutations and cancer occurrence. In conclusion, this study provides first evidence of an increased risk of cancer in patients with NS and a PTPN11 mutation, compared with that in the general population. Our data do not warrant specific cancer surveillance.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.