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RARA Gene Translocation

MedGen UID:
1650639
•Concept ID:
C4744762
•
Cell or Molecular Dysfunction
Synonyms: NR1B1 Gene Translocation; RARA Translocation; RARalpha Gene Translocation; Retinoic Acid Receptor Alpha Gene Translocation

Definition

A cytogenetic abnormality that refers to any translocation involving the RARA gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRARA Gene Translocation

Professional guidelines

PubMed

Acute promyelocytic leukemia current treatment algorithms.
Yilmaz M, Kantarjian H, Ravandi F
Blood Cancer J 2021 Jun 30;11(6):123. doi: 10.1038/s41408-021-00514-3. PMID: 34193815Free PMC Article
Acute Myeloid Leukemia: Diagnosis and Management Based on Current Molecular Genetics Approach.
Suguna E, Farhana R, Kanimozhi E, Kumar PS, Kumaramanickavel G, Kumar CS
Cardiovasc Hematol Disord Drug Targets 2018;18(3):199-207. doi: 10.2174/1871529X18666180515130136. PMID: 29766829
Treatment of acute promyelocytic leukemia with arsenic trioxide: clinical results and open questions.
Lengfelder E, Hofmann WK, Nowak D
Expert Rev Anticancer Ther 2013 Sep;13(9):1035-43. doi: 10.1586/14737140.2013.833681. PMID: 24053202

Recent clinical studies

Etiology

Proteogenomic analysis reveals cytoplasmic sequestration of RUNX1 by the acute myeloid leukemia-initiating CBFB::MYH11 oncofusion protein.
Day RB, Hickman JA, Xu Z, Katerndahl CD, Ferraro F, Ramakrishnan SM, Erdmann-Gilmore P, Sprung RW, Mi Y, Townsend RR, Miller CA, Ley TJ
J Clin Invest 2023 Dec 7;134(4) doi: 10.1172/JCI176311. PMID: 38061017Free PMC Article
How retinoic acid and arsenic transformed acute promyelocytic leukemia therapy.
Korsos V, Miller WH Jr
J Mol Endocrinol 2022 Nov 1;69(4):T69-T83. Epub 2022 Oct 11 doi: 10.1530/JME-22-0141. PMID: 36112505
Molecular remission as a therapeutic objective in acute promyelocytic leukemia.
Cicconi L, Fenaux P, Kantarjian H, Tallman M, Sanz MA, Lo-Coco F
Leukemia 2018 Aug;32(8):1671-1678. Epub 2018 Jul 19 doi: 10.1038/s41375-018-0219-5. PMID: 30026570
Acute Myeloid Leukemia: Diagnosis and Management Based on Current Molecular Genetics Approach.
Suguna E, Farhana R, Kanimozhi E, Kumar PS, Kumaramanickavel G, Kumar CS
Cardiovasc Hematol Disord Drug Targets 2018;18(3):199-207. doi: 10.2174/1871529X18666180515130136. PMID: 29766829
Dynamics of epigenetic modifications in leukemia.
Uribesalgo I, Di Croce L
Brief Funct Genomics 2011 Jan;10(1):18-29. Epub 2011 Jan 21 doi: 10.1093/bfgp/elr002. PMID: 21258047Free PMC Article

Diagnosis

How retinoic acid and arsenic transformed acute promyelocytic leukemia therapy.
Korsos V, Miller WH Jr
J Mol Endocrinol 2022 Nov 1;69(4):T69-T83. Epub 2022 Oct 11 doi: 10.1530/JME-22-0141. PMID: 36112505
Acute promyelocytic leukemia current treatment algorithms.
Yilmaz M, Kantarjian H, Ravandi F
Blood Cancer J 2021 Jun 30;11(6):123. doi: 10.1038/s41408-021-00514-3. PMID: 34193815Free PMC Article
Mutational profile of ZBTB16-RARA-positive acute myeloid leukemia.
Fabiani E, Cicconi L, Nardozza AM, Cristiano A, Rossi M, Ottone T, Falconi G, Divona M, Testi AM, Annibali O, Castelli R, Lazarevic V, Rego E, Montesinos P, Esteve J, Venditti A, Della Porta M, Arcese W, Lo-Coco F, Voso MT
Cancer Med 2021 Jun;10(12):3839-3847. Epub 2021 May 27 doi: 10.1002/cam4.3904. PMID: 34042280Free PMC Article
Acute Myeloid Leukemia: Diagnosis and Management Based on Current Molecular Genetics Approach.
Suguna E, Farhana R, Kanimozhi E, Kumar PS, Kumaramanickavel G, Kumar CS
Cardiovasc Hematol Disord Drug Targets 2018;18(3):199-207. doi: 10.2174/1871529X18666180515130136. PMID: 29766829
Fusion genes in malignant neoplastic disorders of haematopoietic system.
Saleem M, Yusoff NM
Hematology 2016 Oct;21(9):501-12. Epub 2016 Feb 24 doi: 10.1080/10245332.2015.1106816. PMID: 26871368

Therapy

How retinoic acid and arsenic transformed acute promyelocytic leukemia therapy.
Korsos V, Miller WH Jr
J Mol Endocrinol 2022 Nov 1;69(4):T69-T83. Epub 2022 Oct 11 doi: 10.1530/JME-22-0141. PMID: 36112505
Retinoids as Chemo-Preventive and Molecular-Targeted Anti-Cancer Therapies.
Hunsu VO, Facey COB, Fields JZ, Boman BM
Int J Mol Sci 2021 Jul 20;22(14) doi: 10.3390/ijms22147731. PMID: 34299349Free PMC Article
Acute promyelocytic leukemia current treatment algorithms.
Yilmaz M, Kantarjian H, Ravandi F
Blood Cancer J 2021 Jun 30;11(6):123. doi: 10.1038/s41408-021-00514-3. PMID: 34193815Free PMC Article
Mutational profile of ZBTB16-RARA-positive acute myeloid leukemia.
Fabiani E, Cicconi L, Nardozza AM, Cristiano A, Rossi M, Ottone T, Falconi G, Divona M, Testi AM, Annibali O, Castelli R, Lazarevic V, Rego E, Montesinos P, Esteve J, Venditti A, Della Porta M, Arcese W, Lo-Coco F, Voso MT
Cancer Med 2021 Jun;10(12):3839-3847. Epub 2021 May 27 doi: 10.1002/cam4.3904. PMID: 34042280Free PMC Article
Molecular remission as a therapeutic objective in acute promyelocytic leukemia.
Cicconi L, Fenaux P, Kantarjian H, Tallman M, Sanz MA, Lo-Coco F
Leukemia 2018 Aug;32(8):1671-1678. Epub 2018 Jul 19 doi: 10.1038/s41375-018-0219-5. PMID: 30026570

Prognosis

Acute promyelocytic leukemia current treatment algorithms.
Yilmaz M, Kantarjian H, Ravandi F
Blood Cancer J 2021 Jun 30;11(6):123. doi: 10.1038/s41408-021-00514-3. PMID: 34193815Free PMC Article
Mutational profile of ZBTB16-RARA-positive acute myeloid leukemia.
Fabiani E, Cicconi L, Nardozza AM, Cristiano A, Rossi M, Ottone T, Falconi G, Divona M, Testi AM, Annibali O, Castelli R, Lazarevic V, Rego E, Montesinos P, Esteve J, Venditti A, Della Porta M, Arcese W, Lo-Coco F, Voso MT
Cancer Med 2021 Jun;10(12):3839-3847. Epub 2021 May 27 doi: 10.1002/cam4.3904. PMID: 34042280Free PMC Article
Molecular remission as a therapeutic objective in acute promyelocytic leukemia.
Cicconi L, Fenaux P, Kantarjian H, Tallman M, Sanz MA, Lo-Coco F
Leukemia 2018 Aug;32(8):1671-1678. Epub 2018 Jul 19 doi: 10.1038/s41375-018-0219-5. PMID: 30026570
Acute Myeloid Leukemia: Diagnosis and Management Based on Current Molecular Genetics Approach.
Suguna E, Farhana R, Kanimozhi E, Kumar PS, Kumaramanickavel G, Kumar CS
Cardiovasc Hematol Disord Drug Targets 2018;18(3):199-207. doi: 10.2174/1871529X18666180515130136. PMID: 29766829
Fusion genes in malignant neoplastic disorders of haematopoietic system.
Saleem M, Yusoff NM
Hematology 2016 Oct;21(9):501-12. Epub 2016 Feb 24 doi: 10.1080/10245332.2015.1106816. PMID: 26871368

Clinical prediction guides

Clinical and genomic characterization of an ATRA-insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion.
Kirkham JK, Liu YC, Foy SG, Ma J, Gheorghe G, Furtado LV, Popescu MI, Klco JM, Karol SE, Blackburn PR
Genes Chromosomes Cancer 2023 Oct;62(10):617-623. Epub 2023 Jun 7 doi: 10.1002/gcc.23180. PMID: 37283355
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual-color dual-fusion FISH studies.
Gagnon MF, Berg HE, Meyer RG, Sukov WR, Van Dyke DL, Jenkins RB, Greipp PT, Thorland EC, Hoppman NL, Xu X, Baughn LB, Reichard KK, Ketterling RP, Peterson JF
Genes Chromosomes Cancer 2022 Oct;61(10):629-634. Epub 2022 Jun 10 doi: 10.1002/gcc.23070. PMID: 35639830
Mutational profile of ZBTB16-RARA-positive acute myeloid leukemia.
Fabiani E, Cicconi L, Nardozza AM, Cristiano A, Rossi M, Ottone T, Falconi G, Divona M, Testi AM, Annibali O, Castelli R, Lazarevic V, Rego E, Montesinos P, Esteve J, Venditti A, Della Porta M, Arcese W, Lo-Coco F, Voso MT
Cancer Med 2021 Jun;10(12):3839-3847. Epub 2021 May 27 doi: 10.1002/cam4.3904. PMID: 34042280Free PMC Article
Incidence of preleukemic fusion genes in healthy subjects.
Kosik P, Skorvaga M, Belyaev I
Neoplasma 2016;63(5):659-72. doi: 10.4149/neo_2016_502. PMID: 27468869
Clinical relevance of the PML/RAR-a gene rearrangement in acute promyelocytic leukaemia.
Lo Coco F, Pelicci PG, Biondi A
Leuk Lymphoma 1994 Feb;12(5-6):327-32. doi: 10.3109/10428199409073773. PMID: 8180596

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