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.

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

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.