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t(11;17)(q13;q21) NUMA1/RARA

Written1998-05Franck Viguié
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1126

Clinics and Pathology

Disease atypical M3 AML (in most cases, M3 AML is characterized by a t(15;17)(q25;q21))
Epidemiology exceptional (only 1 case fully described), a 6 mth old male patient
Clinics multiple cutaneous localizations; blue-green macules on the scalp and the trunk; coagulation parameters and platelets count were normal
Prognosis complet remission obtained with ATRA treatment and autologous bone marrow transplantation (38 mths disease-free follow up after BMT)


Additional anomalies no
Variants 3 related translocations observed in M3 AML; the first is the common translocation (15;17) and the two others are extremelly rare; all these translocations involve a breakpoint at 17q21, in RARa, which fuses with different partners: 1- t(15;17)(q22;q21), fusion with PML in 15q22; 2- t(5;17)(q32;q12), fusion with NPM1 in 5q32, encoding for a RNA processing protein; 3- t(11;17)(q23;q21), fusion with PLZF in 11q23, a transcription factor.

Genes involved and Proteins

Gene Name NUMA1
Location 11q13
Protein NuMA protein is an essential component for the formation and maintenance of mitotic spindle poles during mitosis; dimerization domain and nuclear localisation signal.
Gene Name RARA
Location 17q12-21
Protein wide expression; nuclear receptor; binds specific DNA sequences: HRE (hormone response elements); ligand and dimerization domain; role in growth and differentiation.

Result of the chromosomal anomaly

Hybrid gene
Description fusion gene on der(11) encompassed by a lamba phage clone B350g; breakpoint in RARa gene in the usual breakpoint cluster region within intron 2.
Transcript 5' NuMA - 3' RARa transcript; no reciprocal 5' RARa - 3' NuMA transcript can be detected
Fusion Protein
Description 2284 amino acids, 260 kDa; includes the NH2-terminal globular domain and the alpha helical dimerization domain of NuMA (amino acids 1 to 1883) linked to the ligand-binding, dimerization and DNA-binding domains of RARa (amino acids 61 to 462)
Expression Localisation nuclear localisation, under the form of sheet-like nuclear aggregates which partially co-localizes with normal NuMA protein
Oncogenesis as for the three other translocations associated with APL, the main consequence of NuMA-RARa fusion seems to be an alteration in the retinoid signalling pathway; as for PML, PLZF or NPM, NuMA, the forth fusion partner of RARa would " share the capacity to participate in protein-protein interactions, which may result in the formation of abnormal heterodimers or aggregates in which co-activators of retinoid signalling are sequestered "

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia.
Wells RA, Catzavelos C, Kamel-Reid S
Nature genetics. 1997 ; 17 (1) : 109-113.
PMID 9288109
A new variant translocation in acute promyelocytic leukaemia: molecular characterization and clinical correlation.
Wells RA, Hummel JL, De Koven A, Zipursky A, Kirby M, Dubé I, Kamel-Reid S
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (4) : 735-740.
PMID 8618456


This paper should be referenced as such :
Viguié, F
Atlas Genet Cytogenet Oncol Haematol. 1998;2(4):132-133.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 3 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;17)(q13;q21) NUMA1/RARA

External links

NUMA1 (11q13.4) RARA (17q21.2)

NUMA1 (11q13.4) RARA (17q21.2)

Mitelman databaset(11;17)(q13;q21) [Case List]    t(11;17)(q13;q21) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseNUMA1/RARA [MCList]  NUMA1 (11q13.4) RARA (17q21.2)
TICdbNUMA1/RARA  NUMA1 (11q13.4) RARA (17q21.2)
Disease databaset(11;17)(q13;q21) NUMA1/RARA
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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