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t(6;11)(q24.1;p15.5) NUP98/CCDC28A

Written2017-04Tatiana Gindina
Gorbacheva Memorial Institute of Oncology, Hematology and Transplantation at Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russian Federation / e-mail:

Abstract Review on t(6;11)(q24.1;p15.5), with data on the genes involved

Keywords Chromosome 6; chromosome 11; Acute megakaryoblastic leukemia; T lymphoblastic leukaemia/lymphoma

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ICD-Topo C420,C421,C424
ICD-Morpho 9910/3 Acute megakaryoblastic leukaemia
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1395

Clinics and Pathology

Disease Acute megakaryoblastic leukemia (M7 AML) and T lymphoblastic leukemia
Epidemiology Only two cases to date: a 5-year-old female patient (Tosi et al, 2005) and a 26-year-old male patient (Romana et al, 2006).


Cytogenetics Molecular FISH technique with the NUP98 probe and BAC RP11-900M13 probe has been used to confirm the translocation in the reported case (Romana et al, 2006).
Additional anomalies The T-ALL adult patient showed an additional abnormality of 12p13 (Romana et al, 2006).

Genes involved and Proteins

Gene NameCCDC28A (coiled-coil domain containing 28A)
Location 6q24.1
Protein CCDC28A encodes a coiled-coil domain containing protein. The native CCDC28A protein has no recognizable similarity to other proteins or functional domains, and no function has so far been assigned to the coiled-coil domain, leaving the biological function of CCDC28A undetermined.
Gene NameNUP98 (nucleoporin 98 kDa)
Location 11p15.4
Note also known as C6orf80 and MGC131913
Protein NUP98 belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to produce a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly repeat domain and participates in many cellular processes including nuclear import/export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a component of the nuclear pore complex.

Result of the chromosomal anomaly

Hybrid gene
Note NUP98/CCDC28A
Description Nucleotide sequence analyses revealed an in-frame fusion between the 13th exon of NUP98 and the second exon of CCDC28A. A reciprocal CCDC28A/NUP98 fusion transcript was detected but is likely devoid of biological activity due to the lack of a predicted fusion protein (Petit et al, 2012).
Fusion Protein
Note NUP98/CCDC28A
  Schematic representation of the wild-type NUP98 and CCDC28 products and of the chimeric fusion protein NUP98-CCDC28.
Oncogenesis In mouse models it has been demonstrated that the enforced NUP98/CCDC28A expression promoted the proliferative and self-renewal capacities of hematopoietic progenitors and rapidly caused fatal myeloproliferative neoplasms and defects in the differentiaton of the erythro-megakaryocytic lineage. Although the leukemogenic mechanism remains unknown, NUP98/CCDC28A retains the NUP98 GLFG-repeats able to associate with core binding protein and/or EP300 and has a nuclear localization suggesting possible transactivation activity. The transformation mediated by NUP98/CCDC28A was not associated with deregulation of the HOXA-Meis1 pathway, a feature shared by a diverse set of NUP98 fusions. Additional investigation will be needed to elucidate the role of NUP98/CCDC28A in lymphoid transformation (Petit et al, 2012).

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.


Functional analysis of the NUP98-CCDC28A protein.
Petit A, Ragu C, Soler G, et al.
Haematologica. 2012; 97(3):379-387
PMID 22058212
NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogenetique Hematologique.
Romana SP, Radford-Weiss I, Abdelali RB, et al.
Leukemia. 2006; 20(4):696-706
PMID 16467868
Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia.
Tosi S, Ballabio E, Teigler-Schlegel A, et al.
Genes, Chromosomes & Cancer. 2005; 44(3):225-232
PMID 16028218


This paper should be referenced as such :
Tatiana Gindina
t(6;11)(q24.1;p15.5) NUP98/CCDC28A
Atlas Genet Cytogenet Oncol Haematol. 2018;22(6):244-245.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(6;11)(q24;p15) NUP98/CCDC28A

External links

Mitelman databaset(6;11)(q24;p15)
arrayMap (UZH-SIB Zurich)Morph ( 9910/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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