Acute promyelocytic leukaemia (M3-AML)

In one case, a diagnosis of M1-AML was made, but there were some blasts suggestive of a microgranular variant of acute promyelocytic leukaemia (M3v-AML).

3 cases to date, 3 male patients aged 42, 57, and 67 years (Arnoud et al., 1999; Kusakabe et al., 2008; and Gallagher et al. (ref 6 in Kusakabe et al., 2008)).

Patients exhibited normal WBC, mild anaemia, thrombocytemia and disseminated intravascular coagulation (DIC) (Kusakabe et al., 2008).

One case did not respond to all trans-retinoic acid (ATRA) treatment, but ATRA revealed effective to control DIC, and was therefore continued. In another case, blasts failed to respond to ATRA in vitro.

Data is available in one case: the patient remains in complete remission 21 months after diagnosis.

Cryptic translocation.

-Y in two cases, i(17q) in one case.

5 STAT5B - 3 RARA. Fusion of STAT5B (at exon "n") to exon 3 of RARA. The genes are normally separated by 1.9 Mb on chromosome 17q21; RARA transcription is centromere to telomere, while STAT5B is telomere to centromere. It was therefore presumed that the hybrid gene result from a small inversion (Kusakabe et al., 2008).Fusion protein of 1038 amino acids, composed of the NH2 term coiled-coil domain, the DNA binding domain the SH3 and the SH2 from STAT5B, fused to the transactivation domain, the DNA binding domain, the N-CoR box, and the COOH term ligand binding domain and dimerization domain of RARA.

STAT5B/RARA STAT5B (17q21.2) RARA (17q21.2) M t(17;17)(q21;q21)|STAT5B/RARA STAT5B (17q21.2) RARA (17q21.2) TIC