t(10;17)(p15;q21) ZMYND11/MBTD1

2014-03-01   Nathalie Douet-Guilbert , Audrey Basinko , Marie-Josée Le Bris , Frédéric Morel , Marc De Braekeleer , Etienne De Braekeleer 

1.Cytogenetics Laboratory, Faculty of Medicine, University of Brest, France

Clinics and Pathology


Acute myeloid leukemia (AML), poorly differentiated, AML without maturation or with minimal maturation (AML-M0, and AML-M1)


This is a rare chromosomal rearrangement, only reported in four cases of AML without or with minimal maturation, without molecular characterization (Pollak and Hagemeijer, 1987; Shah et al., 2001; Barjesteh van Waalwijk et al., 2003; Dicker et al., 2007). We add two cases with molecular cytogenetic studies (Tempescul et al., 2007; De Braekeleer et al., 2014).There were 2 cases of AML-M0 and 4 cases of AML-M1.


Patients were aged 11, 13, 16 and 40 years. There were 3 male and 3 female patients.


Treatments of the patients reported in Tempescul et al. 2007, De Braekeleer et al. 2014 were the following: (P1) induction therapy followed by three consolidation courses leading to complete remission; (P2) induction therapy followed by consolidation therapy leading to complete remission, then relapse and second complete remission, then bone marrow transplantation.


(P1) alive in complete remission 71 months following diagnosis; (P2) died 37 months following the initial diagnosis. Another patient reported in the literature was in complete remission at 42 months after diagnosis.



The t(10;17)(p15;q21) involves two genes that were not previously reported to form a putative fusion gene.

Cytogenetics morphological

t(10;17)(p15;q21) is identified by banding cytogenetics.

Cytogenetics molecular

To determine the position of the breakpoints on chromosomes 10 and 17, BACs located in the bands of interest were used as probes in FISH experiments. Analysis with RP11-387K19 showed that one signal hybridized to the normal chromosome 10, and the other split and hybridized to both der(10) and der(17). Analysis with RP11-326B24 showed that one signal hybridized to the normal chromosome 17, and the other split and hybridized to both der(17) and der(10). Co-hybridization with both BAC clones showed two fusion signals. RP11-387K19 contains the ZMYND11 gene and RP11-326B24 the MBTD1 gene.
Atlas Image
FISH with BACs RP11-387K19 (spectrum orange, located in 10p15 and containing ZMYND11) and RP11-326B24 (spectrum green, located in 17q21 and containing MBTD1) showing co-hybridization.

Genes Involved and Proteins

Gene name
ZMYND11 (zinc finger MYND-type containing 11)
Dna rna description
The ZMYND11 gene contains 15 exons, of which 14 are coding, spanning 120 kb. Different isoforms are generated by seven alternatively spliced transcript variants (Hateboer et al., 1995).
Protein description
The protein localizes to the nucleus and contains 3 motifs involved in transcription regulation: a PHD finger and bromodomain in its N-terminal half, and a MYND domain (conserved 2-zinc finger motif) at its C terminus. The MYND domain interacts with the N-CoR/mSin3/HDAC1 complex that causes transcriptional repression (Masselink and Bernards, 2000).
Gene name
MBTD1 (mbt domain containing 1)
Dna rna description
The MBTD1 gene contains 17 exons, of which 15 are coding, spanning 82 kb. Seven transcript variants are known (Eryilmaz et al., 2009).
Protein description
MBTD1 localizes to the nucleus and contains a FCS-type zinc finger at the N-terminus with putative regulatory function and four MBT (malignant brain tumor) repeats at the C-terminus. MBTD1 is a putative Polycomb group protein, which are known to maintain the transcriptionally repressive state of genes, probably via chromatin remodeling (Nady et al., 2012).


Pubmed IDLast YearTitleAuthors
123933832003High EVI1 expression predicts poor survival in acute myeloid leukemia: a study of 319 de novo AML patients.Barjesteh van Waalwijk van Doorn-Khosrovani S et al
239151952014Recurrent translocation (10;17)(p15;q21) in acute poorly differentiated myeloid leukemia likely results in ZMYND11-MBTD1 fusion.De Braekeleer E et al
174855492007Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia.Dicker F et al
198416752009Structural studies of a four-MBT repeat protein MBTD1.Eryilmaz J et al
76218291995BS69, a novel adenovirus E1A-associated protein that inhibits E1A transactivation.Hateboer G et al
107343132000The adenovirus E1A binding protein BS69 is a corepressor of transcription through recruitment of N-CoR.Masselink H et al
229546622012Histone recognition by human malignant brain tumor domains.Nady N et al
33128441987Abnormalities of the short arm of chromosome 9 with partial loss of material in hematological disorders.Pollak C et al
119114132001Widespread bone disease in acute myeloid leukaemia.Shah D et al
171753842007Translocation (10;17)(p15;q21) is a recurrent anomaly in acute myeloblastic leukemia.Tempescul A et al


Nathalie Douet-Guilbert ; Audrey Basinko ; Marie-Josée Le Bris ; Frédéric Morel ; Marc De Braekeleer ; Etienne De Braekeleer

t(10;17)(p15;q21) ZMYND11/MBTD1

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/haematological/1234/t(10;17)(p15;q21)

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