Some individuals have thyroid issues consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer,
most lesions are slowly growing. Visceral as well as intracranial involvement may occur in some cases, and can cause bleeding and symptomatic mechanical compression[6][7]
The genetics of the Bannayan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition. This gene which regulates cell growth, when not working properly can lead to hamartomas. PTEN chromosomal location is 10q23.31, while the molecular location is 87,863,438 to 87,971,930 [2][7]
There are many syndromes that are linked to PTEN aside from Bannayan–Riley–Ruvalcaba Syndrome.[8]
The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome.[9]
Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana[10]
In terms of diagnosing Bannayan–Riley–Ruvalcaba syndrome there is no current method outside the physical characteristics that may be present as signs/symptoms.[3] There are, however, multiple molecular genetics tests (and cytogenetic test) to determine Bannayan–Riley–Ruvalcaba syndrome.[11]
In terms of management one should observe what signs or symptoms are present and therefore treat those as there is no other current guideline. The affected individual should be monitored for cancer of:[3]
^ abDisorders, the National Organization for Rare, ed. (2003). NORD guide to rare disorders. Philadelphia: Lippincott Williams & Wilkins. p. 240. ISBN9780781730631. Archived from the original on 12 January 2023. Retrieved 9 December 2016.
^ ab"PTEN gene". Genetics Home Reference. Archived from the original on 20 December 2016. Retrieved 9 December 2016.
^Bannayan, G. A. (1 July 1971). "Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome". Archives of Pathology. 92 (1): 1–5. ISSN0363-0153. PMID5091590.
