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t(15;17)(q22;q21)|t(15;17)(q24;q21) PML/RARA

Written2018-01Jean-Loup Huret, Philippe Dessen

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 3490
Note Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation, go to  How to contribute

Clinics and Pathology

Disease Acute erythroleukemia (FAB type M6)|Acute myeloblastic leukemia with maturation (FAB type M2)|Acute myeloblastic leukemia without maturation (FAB type M1)|Acute myeloid leukemia, NOS|Acute myelomonocytic leukemia (FAB type M4)|Acute promyelocytic leukemia (FAB type M3)|Bilineage or biphenotypic leukemia|Chronic myeloid leukemia, t(9;22)|Nonneoplastic hematologic disorder/lesion

Genes involved and Proteins

Gene NamePML
Location 15q24.1
Gene NameRARA
Location 17q21.2

Bibliography

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A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements
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Effect of additional chromosomal abnormalities in acute promyelocytic leukemia treated with all-trans-retinoic acid: a report of 17 patients
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Molecular cytogenetic characterization and clinical relevance of additional, complex and/or variant chromosome abnormalities in acute promyelocytic leukemia
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Additional cytogenetic changes do not influence the outcome of patients with newly diagnosed acute promyelocytic leukemia treated with an ATRA plus anthracyclin based protocol
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A report of the Spanish group PETHEMA Haematologica
PMID 11522536
 
Cytogenetics, FISH and RT-PCR analysis of acute promyelocytic leukemia: structure of the fusion point in a case lacking classic t(15;17) translocation
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Leuk Lymphoma 2003 Jan;44(1):111-5
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Correlation of CD2 expression with PML gene breakpoints in patients with acute promyelocytic leukemia
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Diagnosis of acute promyelocytic leukaemia by RT-PCR: detection of PML-RARA and RARA-PML fusion transcripts
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Am J Hematol 2004 Nov;77(3):287-90
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GIMEMA-AIEOPAIDA protocol for the treatment of newly diagnosed acute promyelocytic leukemia (APL) in children
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Morphologic, cytogenetic, and molecular abnormalities in therapy-related acute promyelocytic leukemia
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Am J Clin Pathol 2005 Jun;123(6):840-8
PMID 15899774
 
Impact of FLT3 mutations and promyelocytic leukaemia-breakpoint on clinical characteristics and prognosis in acute promyelocytic leukaemia
Kuchenbauer F, Schoch C, Kern W, Hiddemann W, Haferlach T, Schnittger S
Br J Haematol 2005 Jul;130(2):196-202
PMID 16029447
 
A survival study and prognostic factors analysis on acute promyelocytic leukemia at a single center
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Leuk Res 2007 Jun;31(6):765-71
PMID 17007927
 
Characterization of a zinc finger gene disrupted by the t(15;17) in acute promyelocytic leukemia
Goddard AD, Borrow J, Freemont PS, Solomon E
Science 1991 Nov 29;254(5036):1371-4
PMID 1720570
 
Impact of FLT3 mutations and secondary cytogenetic changes on the outcome of patients with newly diagnosed acute promyelocytic leukemia treated with a single agent arsenic trioxide regimen
Mathews V, Thomas M, Srivastava VM, George B, Srivastava A, Chandy M
Haematologica 2007 Jul;92(7):994-5
PMID 17606455
 
Masked t(15;17) APL with the insertion of PML-RARalpha fusion gene in 4q21
Haraguchi K, Ohno N, Tokunaga M, Tokunaga M, Itoyama T, Gotoh M, Taniwaki M, Tubouchi H
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PMID 19477514
 
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PMID 19743516
 
Additional chromosome abnormalities in patients with acute promyelocytic leukemia treated with all-trans retinoic acid and chemotherapy
Cervera J, Montesinos P, Hernández-Rivas JM, Calasanz MJ, Aventín A, Ferro MT, Luño E, Sánchez J, Vellenga E, Rayón C, Milone G, de la Serna J, Rivas C, González JD, Tormo M, Amutio E, González M, Brunet S, Lowenberg B, Sanz MA
Haematologica 2010 Mar;95(3):424-31
PMID 19903674
 
The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus
de Thé H, Chomienne C, Lanotte M, Degos L, Dejean A
Nature 1990 Oct 11;347(6293):558-61
PMID 2170850
 
Arsenic trioxide in front-line therapy of acute promyelocytic leukemia (C9710): prognostic significance of FLT3 mutations and complex karyotype
Poiré X, Moser BK, Gallagher RE, Laumann K, Bloomfield CD, Powell BL, Koval G, Gulati K, Holowka N, Larson RA, Tallman MS, Appelbaum FR, Sher D, Willman C, Paietta E, Stock W
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PMID 24160850
 
A case of therapy-related acute myeloid leukemia with a normal karyotype after sustained molecular complete remission of acute promyelocytic leukemia
Park SH, Chi HS, Cho YU, Jang S, Park CJ, Lee JH
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PMID 24422201
 
Arsenic trioxide and all-trans retinoic acid treatment for acute promyelocytic leukaemia in all risk groups (AML17): results of a randomised, controlled, phase 3 trial
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Detection of the PML/RAR alpha fusion gene in acute promyelocytic leukemia with a complex translocation involving chromosomes 15, 17, and 18
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Secondary cytogenetic changes in acute promyelocytic leukemia--prognostic importance in patients treated with chemotherapy alone and association with the intron 3 breakpoint of the PML gene: a Cancer and Leukemia Group B study
Slack JL, Arthur DC, Lawrence D, Mrózek K, Mayer RJ, Davey FR, Tantravahi R, Pettenati MJ, Bigner S, Carroll AJ, Rao KW, Schiffer CA, Bloomfield CD
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PMID 9164186
 
Trisomy 22 in acute myeloid leukemia: a marker for myeloid leukemia with monocytic features and cytogenetically cryptic inversion 16
Wong KF, Kwong YL
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PMID 10087946
 
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Wong KF, Kwong YL
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Aml1/ETO and Pml/RARA rearrangements in a case of AML-M2 acute myeloblastic leukemia with t(15;17)
Varella-Garcia M, Brizard F, Roche J, Flandrin G, Drabkin H, Brizard A
Leuk Lymphoma 1999 Apr;33(3-4):403-6
PMID 10221524
 
Identification of the t(15;17) in AML FAB types other than M3: evaluation of the role of molecular screening for the PML/RARalpha rearrangement in newly diagnosed AML
Allford S, Grimwade D, Langabeer S, Duprez E, Saurin A, Chatters S, Walker H, Roberts P, Rogers J, Bain B, Patterson K, McKernan A, Freemont P, Solomon E, Burnett A, Goldstone A, Linch D
The Medical Research Council (MRC) Adult Leukaemia Working Party Br J Haematol
PMID 10233384
 
Identification of the t(15;17) in AML FAB types other than M3: evaluation of the role of molecular screening for the PML/RARalpha rearrangement in newly diagnosed AML
Allford S, Grimwade D, Langabeer S, Duprez E, Saurin A, Chatters S, Walker H, Roberts P, Rogers J, Bain B, Patterson K, McKernan A, Freemont P, Solomon E, Burnett A, Goldstone A, Linch D
The Medical Research Council (MRC) Adult Leukaemia Working Party Br J Haematol
PMID 10233384
 
PML-RARA fusion transcripts in irradiated and normal hematopoietic cells
Quina AS, Gameiro P, Sá da Costa M, Telhada M, Parreira L
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PMID 10992301
 
Common leukemia- and lymphoma-associated genetic aberrations in healthy individuals
Song J, Mercer D, Hu X, Liu H, Li MM
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PMID 21354057
 
Acute myeloblastic leukaemias of FAB types M6 and M4, with cryptic PML/RARalpha fusion gene formation, relapsing as acute promyelocytic leukaemia M3
Virchis A, Massey E, Butler T, Devaraj P, Wright F, Secker-Walker L, Prentice HG, Mehta A
Br J Haematol 2001 Sep;114(3):551-6
PMID 11552979
 
Morphologic characterization of acute myeloid leukemia with cytogenetic or molecular evidence of t(8;21), t(15;17), inv(16) and 11q23 abnormalities
Rozman M, Navarro JT, Domingo A, Ayats R, Vallespí T, Gallart M, Florensa L; Catalan Cooperative Group of Hematologic Cytology
Haematologica 2002 Aug;87(8):886-7
PMID 12161368
 
Prognostic impact of specific chromosomal aberrations in a large group of pediatric patients with acute myeloid leukemia treated uniformly according to trial AML-BFM 98
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PMID 20439630
 
A novel hierarchical prognostic model of AML solely based on molecular mutations
Grossmann V, Schnittger S, Kohlmann A, Eder C, Roller A, Dicker F, Schmid C, Wendtner CM, Staib P, Serve H, Kreuzer KA, Kern W, Haferlach T, Haferlach C
Blood 2012 Oct 11;120(15):2963-72
PMID 22915647
 
The landscape and therapeutic relevance of cancer-associated transcript fusions
Yoshihara K, Wang Q, Torres-Garcia W, Zheng S, Vegesna R, Kim H, Verhaak RG
Oncogene 2015 Sep 10;34(37):4845-54
PMID 25500544
 
A study to determine whether trisomy 8, deleted 9q and trisomy 22 are markers of cryptic rearrangements of PML/RARalpha, AML1/ETO and CBFB/MYH11 respectively in acute myeloid leukaemia
Langabeer SE, Grimwade D, Walker H, Rogers JR, Burnett AK, Goldstone AH, Linch DC
MRC Adult Leukaemia Working Party Medical Research Council
PMID 9609531
 
Multiplex reverse transcription-polymerase chain reaction for simultaneous screening of 29 translocations and chromosomal aberrations in acute leukemia
Pallisgaard N, Hokland P, Riishøj DC, Pedersen B, Jørgensen P
Blood 1998 Jul 15;92(2):574-88
PMID 9657758
 
Detection of karyotypic aberrations in acute myeloblastic leukaemia: a prospective comparison between PCR/FISH and standard cytogenetics in 140 patients with de novo AML
Krauter J, Peter W, Pascheberg U, Heinze B, Bergmann L, Hoelzer D, Lübbert M, Schlimok G, Arnold R, Kirchner H, Port M, Ganser A, Heil G
Br J Haematol 1998 Oct;103(1):72-8
PMID 9792292
 
Rapid improvement of disseminated intravascular coagulation by donor leukocyte infusions in a patient with promyelocytic crisis of chronic myelogenous leukemia after reduced-intensity stem cell transplantation from an HLA 2-antigen-mismatched mother
Matsue K, Yamada K, Takeuchi M, Tabayashi T
Int J Hematol 2003 May;77(4):408-11
PMID 12774933
 
[Treatment of promyelocytic blast crisis of chronic myelogenous leukemia with all-trans-retinoic acid]
Tsurugano S, Togawa A, Soda Y, Miwa A, Takaku F, Yuo A, Yamada K, Hirai H
Rinsho Ketsueki 1994 Jan;35(1):36-41
PMID 8139100
 
Biphenotypic acute leukemia with t(15;17)
Scolnik MP, Aranguren PN, Cuello MT, Palacios MF, Sanjurjo J, Giunta M, Bracco MM, Acevedo S
Leuk Lymphoma 2005 Apr;46(4):607-10
PMID 16019491
 


Translocations implicated (Data extracted from papers in the Atlas)

 t(15;17)(q22;q21)|t(15;17)(q24;q21) PML/RARA

External links

PML (15q24.1) RARA (17q21.2)

Mitelman databaset(15;17)(q22;q21)|t(15;17)(q24;q21) [Case List]    t(15;17)(q22;q21)|t(15;17)(q24;q21) [Transloc-MCList] PML/RARA [Fusion-MCList]
COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMap (UZH-SIB Zurich)[select an item]
 
 
REVIEW articlesautomatic search in PubMed
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indexed on : Tue Nov 6 14:08:44 CET 2018


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