Bannayan-Riley-Ruvalcaba syndrome: Difference between revisions

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* The symptoms of BRRS usually develop in the first decade of life, and start with symptoms such as [[developmental delay]], [[macrocephaly]] and [[Penis|penile]] lentigines.
* The symptoms of BRRS usually develop in the first decade of life, and start with symptoms such as [[developmental delay]], [[macrocephaly]] and [[Penis|penile]] lentigines.
'''Complications'''
'''Complications'''
* Common complications of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) include:<ref name="pmid20301661">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><ref name="pmid211904482">{{cite journal |vauthors=Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V |title=Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity |journal=Thyroid |volume=21 |issue=2 |pages=135–44 |date=February 2011 |pmid=21190448 |doi=10.1089/thy.2010.0226 |url=}}</ref><ref name="pmid20962022">{{cite journal |vauthors=Smith JR, Marqusee E, Webb S, Nose V, Fishman SJ, Shamberger RC, Frates MC, Huang SA |title=Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=34–7 |date=January 2011 |pmid=20962022 |doi=10.1210/jcem.96.3.zeg34a |url=}}</ref><ref name="pmid15067177">{{cite journal |vauthors=Zambrano E, Holm I, Glickman J, Huang S, Perez-Atayde A, Kozakewich HP, Shamberger RC, Nosé V |title=Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes |journal=Endocr. Pathol. |volume=15 |issue=1 |pages=55–64 |date=2004 |pmid=15067177 |doi= |url=}}</ref><ref name="pmid26700035">{{cite journal |vauthors=Ngeow J, Sesock K, Eng C |title=Breast cancer risk and clinical implications for germline PTEN mutation carriers |journal=Breast Cancer Res. Treat. |volume=165 |issue=1 |pages=1–8 |date=August 2017 |pmid=26700035 |doi=10.1007/s10549-015-3665-z |url=}}</ref>
* Common complications of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) include:<ref name="pmid20301661">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><ref name="pmid211904482">{{cite journal |vauthors=Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V |title=Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity |journal=Thyroid |volume=21 |issue=2 |pages=135–44 |date=February 2011 |pmid=21190448 |doi=10.1089/thy.2010.0226 |url=}}</ref><ref name="pmid20962022">{{cite journal |vauthors=Smith JR, Marqusee E, Webb S, Nose V, Fishman SJ, Shamberger RC, Frates MC, Huang SA |title=Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=34–7 |date=January 2011 |pmid=20962022 |doi=10.1210/jcem.96.3.zeg34a |url=}}</ref><ref name="pmid15067177">{{cite journal |vauthors=Zambrano E, Holm I, Glickman J, Huang S, Perez-Atayde A, Kozakewich HP, Shamberger RC, Nosé V |title=Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes |journal=Endocr. Pathol. |volume=15 |issue=1 |pages=55–64 |date=2004 |pmid=15067177 |doi= |url=}}</ref><ref name="pmid26700035">{{cite journal |vauthors=Ngeow J, Sesock K, Eng C |title=Breast cancer risk and clinical implications for germline PTEN mutation carriers |journal=Breast Cancer Res. Treat. |volume=165 |issue=1 |pages=1–8 |date=August 2017 |pmid=26700035 |doi=10.1007/s10549-015-3665-z |url=}}</ref><ref name="pmid26185318">{{cite journal |vauthors=Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA |title=Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome |journal=Am. J. Clin. Pathol. |volume=144 |issue=2 |pages=322–8 |date=August 2015 |pmid=26185318 |doi=10.1309/AJCP84INGJUVTBME |url=}}</ref>
** Increased risk of following cancers:
** Increased risk of following cancers:
*** Thyroid cancer: Mostly commonly follicular, very rarely papillary, but never medullary thyroid cancer
*** Thyroid cancer: Mostly commonly follicular, very rarely papillary, but never medullary thyroid cancer

Revision as of 15:54, 7 February 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2][1]

Synonyms and keywords: Ruvalcaba-Myhre syndrome, Ruvalcaba-Myhre-Smith syndrome, Riley-Smith syndrome, Bannayan syndrome, or Bannayan-Zonana syndrome

Overview

Bannayan-Zonana syndrome is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

Historical Perspective

  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980.[2]
  • Bannayan-Riley-Ruvalcaba syndrome was also mentioned with different names previously by different doctors thinking that they were describing a new condition and the names are as follows:
    • Ruvalcaba-Myhre syndrome
    • Riley-Smith syndrome
    • Bannayan-Zonana syndrome
  • The overlap of symptoms between Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome was made in 1996.[3]

Classification

Pathophysiology

Causes

Genetic Cause


Differentiating Bannayan-Riley-Ruvalcaba syndrome from Other Diseases

Epidemiology and Demographics

Incidence

Prevalence

Age

Risk Factors

Screening

There is insufficient evidence to recommend routine screening for Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Natural History, Complications, and Prognosis

Natural History

Complications

  • Common complications of Bannayan-Riley-Ruvalcaba syndrome (BRRS) include:[24][25][26][27][28][29]
    • 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

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Skin

HEENT

Neck

Abdomen

Genitourinary

Neuromuscular

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References

  1. Eng C (June 2002). "Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis". Ann. N. Y. Acad. Sci. 968: 213–21. PMID 12119278.
  2. Lee SH, Ryoo E, Tchah H (March 2017). "Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report". Pediatr Gastroenterol Hepatol Nutr. 20 (1): 65–70. doi:10.5223/pghn.2017.20.1.65. PMC 5385310. PMID 28401059.
  3. Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
  4. Bonneau D, Longy M (2000). "Mutations of the human PTEN gene". Hum. Mutat. 16 (2): 109–22. doi:10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0. PMID 10923032.
  5. Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW (August 2011). "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features". J. Med. Genet. 48 (8): 505–12. doi:10.1136/jmg.2011.088807. PMID 21659347.
  6. Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
  7. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C (August 1999). "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome". Hum. Mol. Genet. 8 (8): 1461–72. PMID 10400993.
  8. Bhargava, R.; Au Yong, K. J.; Leonard, N. (2013). "Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients". American Journal of Neuroradiology. 35 (2): 402–406. doi:10.3174/ajnr.A3680. ISSN 0195-6108.
  9. Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  10. Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C (August 2003). "Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway". Am. J. Hum. Genet. 73 (2): 404–11. doi:10.1086/377109. PMC 1180378. PMID 12844284.
  11. Blumenthal GM, Dennis PA (November 2008). "PTEN hamartoma tumor syndromes". Eur. J. Hum. Genet. 16 (11): 1289–300. doi:10.1038/ejhg.2008.162. PMID 18781191.
  12. Poropat, Federico; Maschio, Massimo; Martelossi, Stefano; Ventura, Alessandro; Taddio, Andrea (2015). "Bannayan-Riley-Ruvalcaba Syndrome". Journal of Pediatric Gastroenterology and Nutrition. 60 (6): e48. doi:10.1097/MPG.0b013e31829ef86f. ISSN 0277-2116.
  13. 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.
  14. Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  15. Figer A, Kaplan A, Frydman M, Lev D, Paswell J, Papa MZ, Goldman B, Friedman E (October 2002). "Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer". Clin. Genet. 62 (4): 298–302. PMID 12372056.
  16. Alomari AI (January 2009). "Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome". Clin. Dysmorphol. 18 (1): 1–7. doi:10.1097/MCD.0b013e328317a716. PMID 19011570.
  17. Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG (December 2007). "Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients". Am. J. Med. Genet. A. 143A (24): 2944–58. doi:10.1002/ajmg.a.32023. PMID 17963221.
  18. Acosta S, Torres V, Paulos M, Cifuentes I (April 2017). "CLOVES Syndrome: Severe Neonatal Presentation". J Clin Diagn Res. 11 (4): TR01–TR03. doi:10.7860/JCDR/2017/23801.9719. PMC 5449880. PMID 28571234.
  19. Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung B, Warman ML (May 2018). "Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum". Clin. Genet. 93 (5): 1075–1080. doi:10.1111/cge.13195. PMID 29231959. Vancouver style error: initials (help)
  20. Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ (January 2014). "Bannayan Ruvalcaba Riley Syndrome". ACG Case Rep J. 1 (2): 90–2. doi:10.14309/crj.2014.11. PMID 26157835.
  21. Schreibman IR, Baker M, Amos C, McGarrity TJ (February 2005). "The hamartomatous polyposis syndromes: a clinical and molecular review". Am. J. Gastroenterol. 100 (2): 476–90. doi:10.1111/j.1572-0241.2005.40237.x. PMID 15667510.
  22. Lynch NE, Lynch SA, McMenamin J, Webb D (July 2009). "Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay". Arch. Dis. Child. 94 (7): 553–4. doi:10.1136/adc.2008.155663. PMID 19321504.
  23. Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N (March 2015). "Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome". Eur. J. Paediatr. Neurol. 19 (2): 188–92. doi:10.1016/j.ejpn.2014.11.012. PMID 25549896.
  24. 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)
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. 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.
  30. 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.
  31. Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  32. Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  33. 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.
  34. 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.
  35. Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  36. Merg A, Howe JR (August 2004). "Genetic conditions associated with intestinal juvenile polyps". Am J Med Genet C Semin Med Genet. 129C (1): 44–55. doi:10.1002/ajmg.c.30020. PMID 15264272.
  37. Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  38. Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  39. 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.