Bannayan-Riley-Ruvalcaba syndrome: Difference between revisions
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* The [[diagnostic criteria]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is based on the [[Cowden syndrome]]/PHTS criteria, which include: | * The [[diagnostic criteria]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is based on the [[Cowden syndrome]]/PHTS criteria, which include: | ||
'''Pilarski et al diagnostic criteria''': | '''Pilarski et al diagnostic criteria''': | ||
* Pilarski et al [[diagnostic criteria]] is proposed by [[National Comprehensive Cancer Network]] (NCCN) which include | * Pilarski et al [[diagnostic criteria]] is proposed by [[National Comprehensive Cancer Network]] (NCCN) which include<ref name="pmid203016612">{{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> | ||
'''Major criteria''' | '''Major criteria'''<ref name="pmid203016613">{{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> | ||
* [[Macrocephaly]] | * [[Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile) | ||
* [[Breast cancer]] | |||
* [[Thyroid cancer]] | |||
* [[Endometrial carcinoma]] | |||
* [[Gastrointestinal]] [[hamartomas]] | * [[Gastrointestinal]] [[hamartomas]] | ||
* [[Penis|Penile]] [[pigmentation]] | * [[Penis|Penile]] [[pigmentation]] | ||
'''Minor criteria''' | '''Minor criteria'''<ref name="pmid203016614">{{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> | ||
* [[Autism spectrum disorder|Autism spectrum disorders]] | * [[Autism spectrum disorder|Autism spectrum disorders]] | ||
** [[Intellectual disability]] (IQ ≤75) | |||
* [[Colon cancer]] | * [[Colon cancer]] | ||
* [[Glycogenic acanthosis]] of the [[esophagus]] | * [[Fibroma|Fibromas]] | ||
* [[Uterine]] [[fibroids]] | |||
* [[Genitourinary]] [[tumors]] | |||
* [[Genitourinary]] [[malformation]] | |||
* [[Glycogenic acanthosis]] of the [[esophagus]] | |||
* [[Testicular]] [[lipomatosis]] | * [[Testicular]] [[lipomatosis]] | ||
* [[Diagnosis]] require | * [[Diagnosis]] require | ||
Revision as of 20:26, 7 February 2019
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
- There is no established system for the classification of Bannayan-Riley-Ruvalcaba syndrome (BRRS) .
Pathophysiology
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in autosomal dominant pattern, but sporadic cases have been reported.
- The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz-Jeghers syndrome, juvenile polyposis and Cowden syndrome.
- It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by the following gene mutations:[4][5][6]
- Germline phosphatase and
- Tensin homolog (PTEN) mutations.
- Patients who have Bannayan-Riley-Ruvalcaba syndrome (BRRS), have a positive association with PTEN mutations in 55 to 60 % of cases.[7]
- PTEN track backs to 10q23 which encodes and plays a significant role in the following:[8][9]
- Phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway/Akt pathway
- Effects G1 cell cycle arrest and apoptosis
- Cellular proliferation and
- Migration
Causes
Genetic Cause
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene.[10][11][12][13][14][15]
- Different types of mutations occurs in PTEN gene and are as follows:
Differentiating Bannayan-Riley-Ruvalcaba syndrome from Other Diseases
- Bannayan-Riley-Ruvalcaba syndrome must be differentiated from CLOVE syndrome which include the following:[16][17][18][19]
- Congenital lipomatous overgrowth
- Vascular malformations
- Epidermal nevi and
- Cowden syndrome
- Proteus syndrome
- Lhermitte-Duclos syndrome
- Birt-Hogg-Dube syndrome
Epidemiology and Demographics
Incidence
- The incidence of Bannayan-Riley-Ruvalcaba syndrome is approximately 1 per 200,000 individuals worldwide.[20][21]
Prevalence
- The prevalence of PTEN mutations Bannayan-Riley-Ruvalcaba syndrome is approximately 65%.
Age
- Bannayan-Riley-Ruvalcaba syndrome commonly affects individuals of younger age.[22][23]
- The median age for Bannayan-Riley-Ruvalcaba syndrome diagnosis is as young as five years.
Risk Factors
- Apart from mutations in PTEN gene there are no established risk factors for Bannayan-Riley-Ruvalcaba syndrome (BRRS).
Screening
There is insufficient evidence to recommend routine screening 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:[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
- Increased risk of following cancers:
Prognosis
- The prognosis is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS).
Diagnosis
Diagnostic Criteria
- The diagnostic criteria of Bannayan-Riley-Ruvalcaba syndrome (BRRS) is based on the Cowden syndrome/PHTS criteria, which include:
Pilarski et al diagnostic criteria:
- Pilarski et al diagnostic criteria is proposed by National Comprehensive Cancer Network (NCCN) which include[30]
Major criteria[31]
- Macrocephaly (occipital frontal circumference ≥97th percentile)
- Breast cancer
- Thyroid cancer
- Endometrial carcinoma
- Gastrointestinal hamartomas
- Penile pigmentation
Minor criteria[32]
- Autism spectrum disorders
- Intellectual disability (IQ ≤75)
- Colon cancer
- Fibromas
- Uterine fibroids
- Genitourinary tumors
- Genitourinary malformation
- Glycogenic acanthosis of the esophagus
- Testicular lipomatosis
- Diagnosis require
History and Symptoms
Physical Examination
Skin
HEENT
- Macrocephaly: Very prominent and important feature of Bannayan-Riley-Ruvalcaba syndrome [34][35][36]
- The macrocephaly of BRRS is symmetrical, and does not cause widening of the ventricles or raised ICP (intracerebral pressure).
- High palate
- Downslanting palpebral fissures of the eyes
- Strabismus
- Amblyopia
Neck
Abdomen
- Hamartomatous polyps in gastrointestinal tract[38]
- Intestinal juvenile polyposis[39]
Genitourinary
- Penile lentigines or speckled penis: Hallmark of Bannayan-Riley-Ruvalcaba syndrome (BRRS)[40]
- Pigmentation spots of the male genitalia
- Fistulae
Neuromuscular
- Developmental delay: Could be mild to severe[41][42]
- PTEN hamartoma of soft tissue
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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)
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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) - ↑ 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) - ↑ 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) - ↑ 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.
- ↑ 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.
- ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
- ↑ 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.
- ↑ 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.