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RB1 Gene Deletion

MedGen UID:
1642808
•Concept ID:
C4687406
•
Cell or Molecular Dysfunction
Synonyms: RB Gene Deletion; Retinoblastoma 1 Gene Deletion; Retinoblastoma Gene Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the RB1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRB1 Gene Deletion

Professional guidelines

PubMed

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.
Parma D, Ferrer M, Luce L, Giliberto F, Szijan I
PLoS One 2017;12(12):e0189736. Epub 2017 Dec 20 doi: 10.1371/journal.pone.0189736. PMID: 29261756Free PMC Article

Recent clinical studies

Etiology

Cytogenetic abnormalities in patients with newly diagnosed multiple myeloma as a secondary primary malignancy: a retrospective study.
Wang Y, Wu Y, Xu Z, Zhou H, Chen Y, Zhan R
Hematology 2020 Dec;25(1):176-180. doi: 10.1080/16078454.2020.1757330. PMID: 32345147
Dysplastic Lipoma: A Distinctive Atypical Lipomatous Neoplasm With Anisocytosis, Focal Nuclear Atypia, p53 Overexpression, and a Lack of MDM2 Gene Amplification by FISH; A Report of 66 Cases Demonstrating Occasional Multifocality and a Rare Association With Retinoblastoma.
Michal M, Agaimy A, Contreras AL, Svajdler M, Kazakov DV, Steiner P, Grossmann P, Martinek P, Hadravsky L, Michalova K, Svajdler P, Szep Z, Michal M, Fetsch JF
Am J Surg Pathol 2018 Nov;42(11):1530-1540. doi: 10.1097/PAS.0000000000001129. PMID: 30001242
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.
Parma D, Ferrer M, Luce L, Giliberto F, Szijan I
PLoS One 2017;12(12):e0189736. Epub 2017 Dec 20 doi: 10.1371/journal.pone.0189736. PMID: 29261756Free PMC Article

Diagnosis

Cytogenetic abnormalities in patients with newly diagnosed multiple myeloma as a secondary primary malignancy: a retrospective study.
Wang Y, Wu Y, Xu Z, Zhou H, Chen Y, Zhan R
Hematology 2020 Dec;25(1):176-180. doi: 10.1080/16078454.2020.1757330. PMID: 32345147
Dysplastic Lipoma: A Distinctive Atypical Lipomatous Neoplasm With Anisocytosis, Focal Nuclear Atypia, p53 Overexpression, and a Lack of MDM2 Gene Amplification by FISH; A Report of 66 Cases Demonstrating Occasional Multifocality and a Rare Association With Retinoblastoma.
Michal M, Agaimy A, Contreras AL, Svajdler M, Kazakov DV, Steiner P, Grossmann P, Martinek P, Hadravsky L, Michalova K, Svajdler P, Szep Z, Michal M, Fetsch JF
Am J Surg Pathol 2018 Nov;42(11):1530-1540. doi: 10.1097/PAS.0000000000001129. PMID: 30001242
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.
Parma D, Ferrer M, Luce L, Giliberto F, Szijan I
PLoS One 2017;12(12):e0189736. Epub 2017 Dec 20 doi: 10.1371/journal.pone.0189736. PMID: 29261756Free PMC Article
Spindle Cell Lipomas in Women: A Report of 53 Cases.
Ko JS, Daniels B, Emanuel PO, Elson P, Khachaturov V, McKenney JK, Goldblum JR, Billings SD
Am J Surg Pathol 2017 Sep;41(9):1267-1274. doi: 10.1097/PAS.0000000000000915. PMID: 28719462
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
Brichard B, Heusterspreute M, De Potter P, Chantrain C, Vermylen C, Sibille C, Gala JL
Eur J Cancer 2006 Jan;42(1):65-72. doi: 10.1016/j.ejca.2005.07.027. PMID: 16343894

Therapy

The impact of trisomy 12, retinoblastoma gene and P53 in prognosis of B-cell chronic lymphocytic leukemia.
AbdelSalam M, El Sissy A, Samra MA, Ibrahim S, El Markaby D, Gadallah F
Hematology 2008 Jun;13(3):147-53. doi: 10.1179/102453308X316121. PMID: 18702872
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
Brichard B, Heusterspreute M, De Potter P, Chantrain C, Vermylen C, Sibille C, Gala JL
Eur J Cancer 2006 Jan;42(1):65-72. doi: 10.1016/j.ejca.2005.07.027. PMID: 16343894

Prognosis

Anisometric Cell/Dysplastic Lipomas in a Retinoblastoma Survivor: Report of a Case with Review of the Literature.
Malik F, Cooper K
Int J Surg Pathol 2023 Dec;31(8):1632-1637. Epub 2023 Mar 10 doi: 10.1177/10668969231157779. PMID: 36898668Free PMC Article
Dysplastic Lipoma: A Distinctive Atypical Lipomatous Neoplasm With Anisocytosis, Focal Nuclear Atypia, p53 Overexpression, and a Lack of MDM2 Gene Amplification by FISH; A Report of 66 Cases Demonstrating Occasional Multifocality and a Rare Association With Retinoblastoma.
Michal M, Agaimy A, Contreras AL, Svajdler M, Kazakov DV, Steiner P, Grossmann P, Martinek P, Hadravsky L, Michalova K, Svajdler P, Szep Z, Michal M, Fetsch JF
Am J Surg Pathol 2018 Nov;42(11):1530-1540. doi: 10.1097/PAS.0000000000001129. PMID: 30001242
The impact of trisomy 12, retinoblastoma gene and P53 in prognosis of B-cell chronic lymphocytic leukemia.
AbdelSalam M, El Sissy A, Samra MA, Ibrahim S, El Markaby D, Gadallah F
Hematology 2008 Jun;13(3):147-53. doi: 10.1179/102453308X316121. PMID: 18702872
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
Brichard B, Heusterspreute M, De Potter P, Chantrain C, Vermylen C, Sibille C, Gala JL
Eur J Cancer 2006 Jan;42(1):65-72. doi: 10.1016/j.ejca.2005.07.027. PMID: 16343894

Clinical prediction guides

Dysplastic Lipoma: A Distinctive Atypical Lipomatous Neoplasm With Anisocytosis, Focal Nuclear Atypia, p53 Overexpression, and a Lack of MDM2 Gene Amplification by FISH; A Report of 66 Cases Demonstrating Occasional Multifocality and a Rare Association With Retinoblastoma.
Michal M, Agaimy A, Contreras AL, Svajdler M, Kazakov DV, Steiner P, Grossmann P, Martinek P, Hadravsky L, Michalova K, Svajdler P, Szep Z, Michal M, Fetsch JF
Am J Surg Pathol 2018 Nov;42(11):1530-1540. doi: 10.1097/PAS.0000000000001129. PMID: 30001242
The impact of trisomy 12, retinoblastoma gene and P53 in prognosis of B-cell chronic lymphocytic leukemia.
AbdelSalam M, El Sissy A, Samra MA, Ibrahim S, El Markaby D, Gadallah F
Hematology 2008 Jun;13(3):147-53. doi: 10.1179/102453308X316121. PMID: 18702872
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
Brichard B, Heusterspreute M, De Potter P, Chantrain C, Vermylen C, Sibille C, Gala JL
Eur J Cancer 2006 Jan;42(1):65-72. doi: 10.1016/j.ejca.2005.07.027. PMID: 16343894

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