Balanced Translocation of 10q and 13q, Including the PTENGene, in a Boy with a Human Chorionic Gonadotropin-Secreting Tumor and the Bannayan-Riley-Ruvalcaba Syndrome

Ahmed, Shahana; Marsh, Debbie J.; Weremowicz, Stanislawa; Williams, Denise; Eng, Charis

doi:10.1210/jcem.84.12.6178

Cited by 10 publications

(1 citation statement)

References 33 publications

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“…19 Published case reports have described rare cases of meningiomas, frontal vascular hamartoma, intracranial lipomatous hamartoma, and malignant intracranial human chorionic gonadotropin-secreting tumor in patients with BRRS. 14,20 The PTEN/PI3K pathway governs normal vascular development and tumor angiogenesis. 21 High-flow vascular malformations, 1 including dural AVM, 10 hemangiomata, and vertebral angiomas, 22 may exist in patients with BRRS.…”

Section: Discussionmentioning

confidence: 99%

Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients

Bhargava

Yong

Leonard

2013

American Journal of Neuroradiology

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SUMMARY:Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the penis. There is limited published radiologic literature on the syndrome. The purpose of this study was to review the brain MR imaging findings in Bannayan-Riley-Ruvalcaba syndrome as well as to compare and contrast the findings with other brain disorders that also have brain cysts and white matter lesions. All brain MR imaging studies were reviewed in patients with a diagnosis of Bannayan-Riley-Ruvalcaba syndrome from our hospital. All 7 patients were evaluated with brain MR imaging. MR imaging results showed white matter cysts in the parietal lobe (7/7), frontal lobe (3/7), and temporal lobe (1/7). These were predominantly surrounded by white matter T2 hyperintensities associated with macrocephaly. Cystic lesions on MR imaging in Bannayan-Riley-Ruvalcaba syndrome are prevalent, and knowledge of this differential diagnosis can allow the radiologist to suggest a diagnosis of this condition in a child with macrocephaly.

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Section: Discussionmentioning

confidence: 99%

Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients

Bhargava

Yong

Leonard

2013

American Journal of Neuroradiology

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Constipation, polyps, or cancer? let PTEN predict your future

Eng

2003

American J of Med Genetics Pt A

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The inherited hamartoma polyposis syndromes encompass several distinct clinical syndromes with different genetic bases, Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), juvenile polyposis syndrome (JPS), and Peutz-Jeghers syndrome (PJS). Germline mutations in PTEN, encoding a tumor suppressor phosphatase on 10q23.3, is associated with 80% of CS and 60% of BRRS. JPS is caused by mutations in MADH4 and BMPR1A, encoding two members of the TGFB superfamily. Germline mutations in LKB1 (STK11) are associated with a subset of PJS. The number, distribution, and histologic type of polyps differ amongst these syndromes as do component cancer risks. While rare, usually asymptomatic, hamartomatous polyps are felt to be component to CS. Hamartomatous polyposis is usually prominent and symptomatic in BRRS. Polyposis, which can be quite symptomatic, is a cardinal component feature of PJS and JPS. Interestingly, glycogenic acanthosis of the esophagus is highly predictive of CS and the presence of PTEN mutation. PTEN mutation positive CS have been shown to be at increased risk of breast, thyroid, and endometrial cancer. PTEN mutation positive BRRS are at increased risk of at least breast cancer, possibly that of the thyroid as well. In contrast, JPS and PJS have increased risk of gastrointestinal cancers in particular. Thus, molecular-based diagnoses to differentiate each of these syndromes are important for medical management.

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PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

Macken

Tischkowitz

Lachlan

2019

American J of Med Genetics Pt C

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PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, overgrowth, and tumor predisposition phenotypes, which often overlap. PHTS incorporates a number of historical clinical presentations including Bannayan‐Riley‐Ruvalcaba syndrome, Cowden syndrome, and a macrocephaly‐autism/developmental delay syndrome. Many reviews in the literature focus on PHTS as an adult hamartoma and malignancy predisposition condition. Here, we review the current literature with a focus on pediatric presentations. The review starts with a summary of the main conditions encompassed within PHTS. We then discuss PHTS diagnostic criteria, and clinical features. We briefly address rarer PTEN associations, and the possible role of mTOR inhibitors in treatment. We acknowledge the limited understanding of the natural history of childhood‐onset PHTS as a cancer predisposition syndrome and present a summary of important management considerations.

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Balanced Translocation of 10q and 13q, Including the PTENGene, in a Boy with a Human Chorionic Gonadotropin-Secreting Tumor and the Bannayan-Riley-Ruvalcaba Syndrome

Cited by 10 publications

References 33 publications

Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients

Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients

Constipation, polyps, or cancer? let PTEN predict your future

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

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