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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 NameNUMA1 (nuclear mitotic apparatus protein 1)
Location 11q13.4
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 NameRARA (Retinoic acid receptor, alpha)
Location 17q21.2
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)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [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)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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