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t(3;11)(p25;p15) ANKRD28::NUP98

Written2011-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1509

Clinics and Pathology

Disease Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML)
Epidemiology Two cases to date, with a possible identical rearrangement.
A 32-year-old man have had a common acute lymphoblastic leukemia (c-ALL) with a del(9p). A bone marrow transplantation (BMT) was performed. The donor was his sister. Fifteen months later, a secondary AML with erythrophagocytosis developped. The karyotype was 46,XX (suggesting that the leukemic clone derived from the sibling bone marrow donor), with the following anomalies: a t(3;11)(p25;p15), but also the classical t(8;16)(p11;p13) with MYST3/REBBP rearrangement. The patient died a month later. NUP98 was not tested (Schmidt et al., 2004).
A 33-year-old woman with a refractory anemia with excess of blasts in transformation exhibited a t(3;5;11)(p24;q35;p15) with ANKRD28-NUP98 and NUP98-NSD1 rearrangements, Transformation to AML occured 2 weeks later. In spite of a BMT, the patient died 7 months after diagnosis (Ishikawa et al., 2007).

Genes involved and Proteins

Gene NameANKRD28 (ankyrin repeat domain 28)
Location 3p25.1
Protein 1053 and 1086 amino acids isoforms. Contains 30 ankyrin repeats (protein-protein interaction motifs). ANKRD28 forms a complex with BCAR1/p130Cas, CRK, and DOCK1 to enhance BCAR1 phosphorylation. ANKRD28 is required for cell migration (Kiyokawa and Matsuda, 2009). PP6 is a multisubunit enzyme, comprising a catalytic subunit, a phosphatase-associated protein (SAPS) domain regulatory subunit and ankyrin repeat domain subunits. PP6 holoenzyme, comprising PPP6C catalytic, SAPS1-3 regulatory, and ANKRD28 and ANKRD44 subunits, is required for normal mitotic progression (Zeng et al., 2010).
Gene NameNUP98 (nucleoporin 98 kDa)
Location 11p15.4
Protein Nucleoporin: associated with the nuclear pore complex. Role in nucleocytoplasmic transport processes.

Result of the chromosomal anomaly

Hybrid gene
Description Two in-frame fusion transcripts 5' ANKRD28 - 3' NUP98 (exons 18 and 13 respectively), and 5' NUP98 - 3' NSD1 (exons 12 and 7 respectively) were produced in the case reported by Ishikawa et al. in 2007.
Fusion Protein
Expression Localisation Although 5' NUP98 - 3' partner is the usual fusion transcript involved in leukemogenesis with 11p15 involvement, the present 5' ANKRD28 - 3' NUP98 fusion transcript may have played a role. ANKRD28-NUP98 was localized in the nucleolus and cytoplasm and might have contributed to the leukemogenesis process. Cells transfected with ANKRD28-NUP98 formed more foci than cells transfected with the wild type ANKRD28 (Ishikawa et al., 2007).

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.


A novel gene, ANKRD28 on 3p25, is fused with NUP98 on 11p15 in a cryptic 3-way translocation of t(3;5;11)(p25;q35;p15) in an adult patient with myelodysplastic syndrome/acute myelogenous leukemia.
Ishikawa M, Yagasaki F, Okamura D, Maeda T, Sugahara Y, Jinnai I, Bessho M.
Int J Hematol. 2007 Oct;86(3):238-45.
PMID 17988990
Regulation of focal adhesion and cell migration by ANKRD28-DOCK180 interaction.
Kiyokawa E, Matsuda M.
Cell Adh Migr. 2009 Jul-Sep;3(3):281-4. Epub 2009 Jul 27.
PMID 19458477
RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: breakpoint cluster region and clinical implications.
Schmidt HH, Strehl S, Thaler D, Strunk D, Sill H, Linkesch W, Jager U, Sperr W, Greinix HT, Konig M, Emberger W, Haas OA.
Leukemia. 2004 Jun;18(6):1115-21.
PMID 15085163
Protein phosphatase 6 regulates mitotic spindle formation by controlling the T-loop phosphorylation state of Aurora A bound to its activator TPX2.
Zeng K, Bastos RN, Barr FA, Gruneberg U.
J Cell Biol. 2010 Dec 27;191(7):1315-32.
PMID 21187329


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2012;16(5):366-367.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;11)(p25;p15) ANKRD28/NUP98

External links

ANKRD28 (3p25.1) NUP98 (11p15.4)

ANKRD28 (3p25.1) NUP98 (11p15.4)

ANKRD28 (3p25.1) NUP98 (11p15.4)

Mitelman databaset(3;11)(p25;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 ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseANKRD28::NUP98 [MCList]  ANKRD28 (3p25.1) NUP98 (11p15.4)
Mitelman databaseANKRD28::NUP98 [MCList]  ANKRD28 (3p25.1) NUP98 (11p15.4)
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