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t(7;11)(p15;p15) NUP98/HOXA9

Written1999-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1016
  t(7;11)(p15;p15) G-banding - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services

Clinics and Pathology

Disease AML mostly; occasionally: CML-like cases without t(9;22), or CML in blast crisis (with t(9;22))
Phenotype / cell stem origin M2 or M4 AML mainly; involving maturing leukemic cells in AML cases, might affect trilineage progenitors in CML-like cases
Epidemiology most cases have been found in Japan; balanced sex ratio
Cytology auer rods; low alkaline phosphatase scores; CML like blood features
Prognosis CR in most cases; but patients tend to relapse; mean survival: 15 mths


Additional anomalies most often (90%) none

Genes involved and Proteins

Gene NameHOXA9 (homeobox A9)
Location 7p15.2
Protein encodes a class I homeodomain protein potentially involved in myeloid differentiation
Gene NameNUP98 (nucleoporin 98 kDa)
Location 11p15.4
Dna / Rna alternate splicings
Protein contains repeated motifs and a RNA binding motif; nucleoporin: role in nucleo-cytoplasmic transport

Result of the chromosomal anomaly

Hybrid gene
Description 5' NUP98 - 3' HOXA9
Fusion Protein
Description fuses the N-term GLFG repeat domains of NUP98 to the HOXA9 3' homeobox
Oncogenesis may promote leukaemogenesis through inhibition of HOXA9-mediated terminal differentiation and/or aberrant nucleocytoplasmic transport


The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9.
Borrow J, Shearman AM, Stanton VP Jr, Becher R, Collins T, Williams AJ, Dubé I, Katz F, Kwong YL, Morris C, Ohyashiki K, Toyama K, Rowley J, Housman DE
Nature genetics. 1996 ; 12 (2) : 159-167.
PMID 8563754
Two additional cases of acute myeloid leukemia with t(7;11)(p15;p15) having low neutrophil alkaline phosphatase scores.
Fujimura T, Ohyashiki K, Ohyashiki JH, Kawakubo K, Iwabuchi A, Kodama A, Toyama K
Cancer genetics and cytogenetics. 1993 ; 68 (2) : 143-146.
PMID 8353806
Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia.
Nakamura T, Largaespada DA, Lee MP, Johnson LA, Ohyashiki K, Toyama K, Chen SJ, Willman CL, Chen IM, Feinberg AP, Jenkins NA, Copeland NG, Shaughnessy JD Jr
Nature genetics. 1996 ; 12 (2) : 154-158.
PMID 8563753
Reciprocal translocation involving the short arms of chromosomes 7 and 11, t(7p-;11p+), associated with myeloid leukemia with maturation.
Sato Y, Abe S, Mise K, Sasaki M, Kamada N, Kouda K, Musashi M, Saburi Y, Horikoshi A, Minami Y
Blood. 1987 ; 70 (5) : 1654-1658.
PMID 3478104


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):78-79.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 4 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(7;11)(p15;p15) NUP98/HOXA9

External links

NUP98 (11p15.4) HOXA9 (7p15.2)

NUP98 (11p15.4) HOXA9 (7p15.2)

Mitelman databaset(7;11)(p15;p15)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseNUP98/HOXA9 [MCList]  NUP98 (11p15.4) HOXA9 (7p15.2)
TICdbNUP98/HOXA9  NUP98 (11p15.4) HOXA9 (7p15.2)
REVIEW articlesautomatic search in PubMed
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