| Written | 1998-11 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Other names | Bannayan-Zonana syndrome |
| Riley-Smith syndrome | |
| Ruvalcaba-Myhre-Smith syndrome | |
| Macrocephaly, pseudopapilledema, multiple hemangiomata | |
| Macrocephaly, multiple lipomas, hemangiomata | |
| Atlas_Id | 10044 |
| Genes implicated in | PTEN |
| Inheritance | autosomal dominant; existence of sporadic cases |
| Clinics |
| Note | Bannayan-Riley-Ruvalcaba syndrome is an overgrowth syndrome / hamartomatous polyposis condition with an increased risk of benign and malignant tumours; other overgrowth syndromes at (known) risk of tumourigenesis are : |
| Phenotype and clinics | onset in chilhood (in contrast with Cowden disease, although an allelic disorder, see below); more often found in male patients (lower penetrance in female patients). - overgrowth at birth (postnatal growth decelerates). - macrocephaly - hypotonia and mental deficiency - subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis. - myopathy of the proximal type in 2/3 of cases - pigmentation spots of the male genitalia |
| Neoplastic risk | |
| Genes involved and Proteins |
| Gene Name | PTEN |
| Location | 10q23 |
| Protein | |
| Description | 403 amino acids |
| Function | protein tyrosine phosphatase; tumour suppressor gene |
| Mutations | |
| Germinal | may be not all Bannayan-Riley-Ruvalcaba syndrome cases are due to PTEN mutations; germ-line mutations have also been described in Cowden disease and in some cases with juvenile polyposis syndrome. |
| Somatic | PTEN is mutated in a large number of cancer types |
| Bibliography |
| Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. |
| Arch EM, Goodman BK, Van Wesep RA, Liaw D, Clarke K, Parsons R, McKusick VA, Geraghty MT |
| American journal of medical genetics. 1997 ; 71 (4) : 489-493. |
| PMID 9286463 |
| Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. |
| Bannayan GA |
| Archives of pathology. 1971 ; 92 (1) : 1-5. |
| PMID 5091590 |
| Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. |
| 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 |
| Cancer research. 1998 ; 58 (13) : 2724-2726. |
| PMID 9661881 |
| Inherited macrocephaly-hamartoma syndromes. |
| DiLiberti JH |
| American journal of medical genetics. 1998 ; 79 (4) : 284-290. |
| PMID 9781909 |
| Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. |
| Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C |
| Human molecular genetics. 1998 ; 7 (3) : 507-515. |
| PMID 9467011 |
| Germline mutations in PTEN are present in Bannayan-Zonana syndrome. |
| Marsh DJ, Dahia PL, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C |
| Nature genetics. 1997 ; 16 (4) : 333-334. |
| PMID 9241266 |
| Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. |
| Riley HD Jr and Smith WR |
| Pediatrics. 1960 ; 26 : 293-300. |
| Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. |
| Ruvalcaba RH, Myhre S, Smith DW |
| Clinical genetics. 1980 ; 18 (6) : 413-416. |
| PMID 7449178 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| Bannayan-Riley-Ruvalcaba syndrome |
| Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):52-53. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/BannayanID10044.html |
| External links |
| OMIM | 153480 |
| Orphanet | Bannayan-Riley-Ruvalcaba syndrome |
| MeSH | D006223 |
| MedGen | D006223 |
| UMLS | C0265326 |
| ICD-10 | Q87.8 |
| HGMD | 6022948 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:24:09 CEST 2017 |
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