Bannayan-Riley-Ruvalcaba syndrome: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
The disease is inherited in an [[autosomal dominant]] form, but sporadic cases have been reported. | The disease is [[inherited]] in an [[autosomal dominant]] form, 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]]. | ||
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes [[Peutz-Jeghers syndrome]], [[juvenile polyposis]] and [[Cowden syndrome]]. | |||
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern. | * Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern. | ||
* It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by the following gene mutations:<ref name="pmid10923032">{{cite journal |vauthors=Bonneau D, Longy M |title=Mutations of the human PTEN gene |journal=Hum. Mutat. |volume=16 |issue=2 |pages=109–22 |date=2000 |pmid=10923032 |doi=10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0 |url=}}</ref><ref name="pmid21659347">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref> | * It is understood that [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is the result caused by the following gene [[mutations]]:<ref name="pmid10923032">{{cite journal |vauthors=Bonneau D, Longy M |title=Mutations of the human PTEN gene |journal=Hum. Mutat. |volume=16 |issue=2 |pages=109–22 |date=2000 |pmid=10923032 |doi=10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0 |url=}}</ref><ref name="pmid21659347">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref> | ||
** Germline phosphatase and | ** [[Germline]] [[phosphatase]] and | ||
** Tensin homolog (''[[PTEN (gene)|PTEN]]'') mutations. | ** Tensin homolog (''[[PTEN (gene)|PTEN]]'') mutations. | ||
* Patients who have Bannayan-Riley-Ruvalcaba syndrome (BRRS), have a positive association with ''PTEN'' mutations in 55 to 60 % of cases.<ref name="pmid10400993">{{cite journal |vauthors=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 |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref> | * Patients who have [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS), have a positive association with ''[[PTEN (gene)|PTEN]]'' [[mutations]] in 55 to 60 % of cases.<ref name="pmid10400993">{{cite journal |vauthors=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 |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref> | ||
* PTEN | * [[PTEN (gene)|PTEN]] track backs to 10q23 and encodes the following: | ||
** Phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway | ** [[Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase|Phosphatidylinositol 3,4,5-triphosphate]], a [[phospholipid]] in the [[phosphatidylinositol]] 3-kinase pathway | ||
*** | *** | ||
Revision as of 23:57, 28 January 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
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
Classification
Pathophysiology
The disease is inherited in an autosomal dominant form, 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.
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in autosomal dominant pattern.
- It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by the following gene mutations:[1][2]
- 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.[3]
- PTEN track backs to 10q23 and encodes the following:
- Phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway
- Phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway
Causes
Differentiating Bannayan-Riley-Ruvalcaba syndrome from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Most lesions of BZS are slowly growing and easily resectable. Visceral as well as intracranial involvement may occur in rare cases, and can cause bleeding and symptomatic mechanical compression, especially of the spinal cord or spinal nerve roots. This may require surgical resection.
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
The macroencephaly of BZS is symmetrical, and does not cause widening of the ventricles or raised ICP (intracerebral pressure).
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
- ↑ 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.
- ↑ 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.