ReviewBest practice & research. Clinical endocrinology & metabolism2010
Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes.
Review in Best practice & research. Clinical endocrinology & metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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
36 citing papers in PubMed, 90 citations in OpenAlex.
- Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.Journal of autism and developmental disorders · 2026Article
- Pancreatic neuroendocrine tumors in children and adolescents-Data from the German MET studies (1997-2023).Journal of neuroendocrinology · 2025Article
- MULTIPLE NEUROENDOCRINE NEOPLASIA IN A PATIENT WITH TYPE I NEUROFIBROMATOSIS (NF1): REPORT OF A NEW MUTATION (NF1, EXONS 2-30 DELETION) AND LITERATURE REVIEW.Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery · 2023Review
- Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer.Cancers · 2022Article
- International Society of Paediatric Surgical Oncology (IPSO) Surgical Practice Guidelines.Ecancermedicalscience · 2022Article
- Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.Frontiers in psychiatry · 2022Article
- Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1.Avicenna journal of medicine · 2022Article
- Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations.Frontiers in endocrinology · 2021Review
- Somatostatinoma and Neurofibromatosis Type 1-A Case Report and Review of the Literature.Diagnostics (Basel, Switzerland) · 2020Article
- Bone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic bases.Orphanet journal of rare diseases · 2020Review
- Clinical correlates of blood-derived circulating tumor DNA in pancreatic cancer.Journal of hematology & oncology · 2019Article
- Diagnostic imaging of gastrointestinal neuroendocrine neoplasms with a focus on ultrasound.Journal of ultrasonography · 2019Review
- Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms.Journal of clinical medicine · 2019Review
- Epidemiology of Cancers of the Small Intestine: Trends, Risk Factors, and Prevention.Medical sciences (Basel, Switzerland) · 2019Review
- Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature.BMJ case reports · 2019Review
- Management of Advanced Small Bowel Cancer.Current treatment options in oncology · 2018Review
- Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature.Familial cancer · 2018Review
- A recurrent endometrial stromal sarcoma harbors the novel fusionGynecologic oncology reports · 2017Article
- Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition.British journal of cancer · 2017Article
- Hereditary syndromes predisposing to endocrine tumors and their skin manifestations.Reviews in endocrine & metabolic disorders · 2016Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Neurofibromatosis type 1 (NF-1) and tuberous sclerosis complex (TSC) are two familial syndromes known as phakomatoses that may be associated with endocrine tumours. These hereditary cutaneous conditions affect the central nervous system and are characterised by the development of hamartomas. Over the past 20 years, there have been major advances in our understanding of the molecular basis of these diseases. Both NF-1 and TSC are disorders of unregulated progression through the cell cycle, in which causative genes behave as tumour suppressor genes. The pathogenesis of these familial syndromes is linked by the shared regulation of a common pathway, the protein kinase mammalian target of rapamycin (mTOR). Additional related disorders that also converge on the mTOR pathway include Peutz-Jeghers syndrome and Cowden syndrome. All of these inherited cancer syndromes are associated with characteristic skin findings that offer a clue to their recognition and treatment. The discovery of mTOR inhibitors has led to a possible new therapeutic modality for patients with endocrine tumours as part of these familial syndromes.
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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.