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t(7;11)(p15;p15) NUP98/HOXA13

Written2016-12Aurelia M. Meloni-Ehrig
CSI Laboratories, Alpharetta, GA.

Abstract Several t(7;11)(p15;p15) have been reported in myeloid neoplasms. The most common is the one leading to a fusion between the NUP98 (11p15) and the HOXA9 (7p15). A more rare t(7;11) is the one that leads to a fusion between the NUP98 and the HOXA13 gene on 7p15. This particular t(7;11) is associated primarily with acute myeloid leukemia (AML), primarily FAB M2 and M4. However, it has been reported also in one case of chronic myelogenous leukemia (CML) in blast crisis. The NUP98/HOXA13 fusion protein is thought to promote leukemogenesis through inhibition of HOXA13-mediated terminal differentiation and/or aberrant nucleocytoplasmic transport. . The protein encoded by the NUP98/HOXA13 fusion gene is similar to the one encoded by the NUP98/HOXA9 fusion, and the expression pattern of the HOXA13 gene in leukemic cell lines is similar to that of the HOXA9 gene, suggesting that the NUP98/HOXA13 fusion protein may play a role in leukemogenesis through a mechanism similar to that of the NUP98/HOXA9 fusion protein.

Keywords chromosome 7; chromosome 11; t(7;11)(p15;p15); acute myeloid leukemia (AML); chronic myelogenous leukemia (CML); NUP98; HOXA13

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ICD-Topo C420,C421,C424
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 1360
Note Precise breakpoints are the following: t(7;11)(p15.2;p15.4).

Clinics and Pathology

Note This rare t(7;11) has been reported in:
Acute myeloid leukemia (AML)
Chronic myelogenous leukemia (CML) in blast crisis
Disease Acute myeloid leukemia (AML)
Phenotype / cell stem origin The blasts expressed CD7, CD11b, CD13, CD33, CD34, and HLADR antigens.
Clinics De novo AML reported in a single patient, a 57 year-old woman (Taketani et al, 2002). The patient presented with leukocytosis (118,800/ µL) and 81% myeloid blasts.
Cytogenetics At diagnosis, the karyotype was 46,XX,t(7;11)(p15;p15) in all 20 metaphase cells examined from a bone marrow sample. At remission, all 20 metaphase cells obtained from the bone marrow were normal, 46,XX. The t(7;11) seems to be a solitary abnormality in AML. No additional abnormalities have been reported so far.
Treatment Patient received induction therapy with idarubicin and cytarabine (AraC), followed by multiple cycles of AraC and anthracyclines.
Evolution A relapse occurred in the central nervous system 6 months after diagnosis and in the bone marrow 8 months after diagnosis, and the patient died of progressive disease 16 months after onset.
Prognosis The prognosis in this single case of AML is unfavorable.

Disease Chronic myelogenous leukemia (CML) in blast crisis
Epidemiology This is the only described case so far of a CML in blast crisis presenting with a t(7;11)(p15;p15) in addition to the t(9;22)(q34;q11.2) (Di Giacomo et al., 2014).
Clinics The patient is a 39 year-old man referred for leukocytosis, mild anemia, thrombocytopenia, and splenomegaly. CML in blast crisis was diagnosed on peripheral blood and bone marrow smears.
Cytogenetics Chromosome analysis showed the following karyotype: 46,XY,t(9;22)(q34;q11.2)[6]/46,idem,t(7;11)(p15;p15)[9].
Treatment Patient was treated initially with hydroxyurea, followed by Dasatinib but did not respond. High-dose ARA-C and subsequent bone marrow transplantation from a HLA haploidentical brother, were also unsuccessful.
Prognosis The prognosis in this single case of CML in blast crisis is unfavorable.

Genes involved and Proteins

Gene NameHOXA13 (homeobox A13)
Location 7p15.2
Note he HOXA13 gene is part of the HOXA cluster genes and contains 2 exons, encoding a protein of 338 amino acids with a homeodomain.
Gene NameNUP98 (nucleoporin 98 kDa)
Location 11p15.4
Protein 920 amino acids; 97 kDa; contains repeated motifs (GLFG and FG) in N-term and a RNA binding motif in C-term.

Result of the chromosomal anomaly

Fusion Protein
Description The NUP98/HOXA13 fusion protein consists of the N-terminal phenylalanine-glycine repeat motif of NUP98 and the C-terminal homeodomain of HOXA13, similar to the NUP98/HOXA9 fusion protein (Fujino et al., 2002; Romana et al, 2006).

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.


Blast crisis Ph+ chronic myeloid leukemia with NUP98/HOXA13 up-regulating MSI2.
Di Giacomo D, Pierini V, Barba G, Ceccarelli V, Vecchini A, Mecucci C.
Mol Cytogenet. 2014;7:42.
PMID 24971156
Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15).
Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T.
Blood. 2002;99:1428-1433.
PMID 11830496
Clinical and laboratory features of 78 cases of T-prolymphocytic leukemia.
Romana SP, Radford-Weiss I, Ben Abdelali R, Schluth C, Petit A, Dastugue N, Talmant P, Bilhou-Nabera C, Mugneret F, Lafage-Pochitaloff M, Mozziconacci M-J, Andrieu J, Lai J-L, Terre C, Rack K, Cornillet-Lefebvre P, Luquet I, Nadal N, Nguyen-Khac F, Perot C, Van den Akker J, Fert-Ferrer S, Cabrol C, Charrin C, Tigaud I, Poirel H, Vekemans M, Bernard OA, Berger R, on behalf of the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Leukemia. 2006;20:696-706.
PMID 2404130
The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9.
Taketani T, Taki T, Ono R, Kobayashi Y, Ida K, Hayashi Y.
Genes Chromosome Cancer. 2002;34:437-443.
PMID 12112533


This paper should be referenced as such :
Aurelia M Meloni-Ehrig
t(7;11)(p15;p15) NUP98/HOXA13
Atlas Genet Cytogenet Oncol Haematol. 2017;21(10):372-374.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(7;11)(p15;p15) NUP98/HOXA13

External links

Mitelman databaset(7;11)(p15;p15)
arrayMap (UZH-SIB Zurich)Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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