PTEN Hamartoma Tumour Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 24 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Carotid cavernous fistula in a young adult with Bannayan-Riley-Ruvalcaba syndrome.
Mukhopadhyay Anirudh et al. — Orbit (Amsterdam, Netherlands) (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42112690/
- 2.
Macrocephaly and Skin Lesions: A Clue to the Diagnosis of PTEN Hamartoma Tumor Syndrome.
Abidi Hussain R et al. — The Journal of pediatrics (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42425299/
- 3.
The clinical and phenotypic spectrum of PTEN hamartoma tumor syndrome: a retrospective cohort study.
Ritter Einat et al. — Familial cancer (17 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42753013/
- 4.
Reversible exacerbation of parkinsonism during epirubicin-cyclophosphamide chemotherapy in a patient with PTEN hamartoma tumor syndrome and young-onset Parkinson's disease.
Wakamatsu Nobuaki et al. — Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (11 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42726292/
- 5.
Unexpected airway obstruction during intubation: a rare manifestation of Cowden syndrome.
Pietri L et al. — Annales de dermatologie et de venereologie (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42190629/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
PTEN Hamartoma Tumour Syndrome
PTEN hamartoma tumour syndrome is a rare inherited condition caused by changes in the PTEN gene. It leads to benign growths called hamartomas in the skin, bowel, thyroid and other organs, and raises the lifetime risk of breast, thyroid, kidney and bowel cancers. Some people also have a large head size or developmental differences. Care centres on regular cancer surveillance, treating growths as they arise, and genetic counselling for families.
Most Recent Research
Direct carotid-cavernous fistulas (CCFs) are an uncommon but recognized vascular complication of inherited connective tissue disorders. We report a direct CCF in a 22-year-old patient with Bannayan-Riley-Ruvalcaba syndrome (BRRS), a rare disorder within the phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) spectrum. The patient, diagnosed with BRRS at age two based on the classic triad of macrocephaly, abdominal lipomas, and genital lentiginous macules, presented with acute unilateral eyelid swelling and chemosis in the absence of trauma, visual deficits, or afferent pupillary abnormalities. Imaging revealed a direct CCF, which was successfully treated with endovascular embolization. This case expands the vascular phenotype of BRRS and highlights the importance of considering CCF in PTEN-related disorders, even in the absence of trauma.
Common Questions
What is PTEN Hamartoma Tumour Syndrome?
PTEN hamartoma tumour syndrome is a rare inherited condition caused by changes in the PTEN gene. It leads to benign growths called hamartomas in the skin, bowel, thyroid and other organs, and raises the lifetime risk of breast, thyroid, kidney and bowel cancers. Some people also have a large head size or developmental differences. Care centres on regular cancer surveillance, treating growths as they arise, and genetic counselling for families.
How many clinical trials are available for PTEN Hamartoma Tumour Syndrome?
RareWays currently indexes 15 clinical trials for PTEN Hamartoma Tumour Syndrome, of which 6 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for PTEN Hamartoma Tumour Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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