Bannayan-Riley-Ruvalcaba syndrome natural history, complications and prognosis
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Template:Bannayan-Riley-Ruvalcaba syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The symptoms of BRRS usually develop in the first decade of life.The prognosis is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS).
Natural History, Complications, and Prognosis
Natural History
- The symptoms of BRRS usually develop in the first decade of life, and start with symptoms such as developmental delay, macrocephaly and penile lentigines.
Complications
- Common complications of Bannayan-Riley-Ruvalcaba syndrome (BRRS) include:[1][2][3][4][5][6][7]
- Increased risk of following cancers:
- Thyroid cancer: Mostly commonly follicular, very rarely papillary, but never medullary thyroid cancer
- Breast cancer
- Renal cell cancer
- Granulosa cell tumor of the ovary
- Increased risk of following cancers:
Prognosis
- The prognosis is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS).
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V (February 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity". Thyroid. 21 (2): 135–44. doi:10.1089/thy.2010.0226. PMID 21190448.
- ↑ Smith JR, Marqusee E, Webb S, Nose V, Fishman SJ, Shamberger RC, Frates MC, Huang SA (January 2011). "Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome". J. Clin. Endocrinol. Metab. 96 (1): 34–7. doi:10.1210/jcem.96.3.zeg34a. PMID 20962022.
- ↑ Zambrano E, Holm I, Glickman J, Huang S, Perez-Atayde A, Kozakewich HP, Shamberger RC, Nosé V (2004). "Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes". Endocr. Pathol. 15 (1): 55–64. PMID 15067177.
- ↑ Ngeow J, Sesock K, Eng C (August 2017). "Breast cancer risk and clinical implications for germline PTEN mutation carriers". Breast Cancer Res. Treat. 165 (1): 1–8. doi:10.1007/s10549-015-3665-z. PMID 26700035.
- ↑ Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA (August 2015). "Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome". Am. J. Clin. Pathol. 144 (2): 322–8. doi:10.1309/AJCP84INGJUVTBME. PMID 26185318.
- ↑ Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.