Myeloid malignancies

1 acute myeloblastic leukemia with maturation (AML-M2) (La Starza et al., 2006), 1 myelodysplastic syndrome (MDS) that terminated in acute myeloid leukemia without maturation (AML-M1) and 1 AML with t(3;3)(q21;q26.2) (present cases, see the Case Reports t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML and t(6;17)(p21;p13) and acquisition of the Philadelphia chromosome translocation with p190 BCR-ABL1 transcript during the course of myelodysplastic syndrome). Note: an identical anomaly was also detected in 2 patients with aneurysmal bone cysts (Winnepenninckx et al., 2001; Althof et al., 2004).

Only sporadic cases: 2 males aged 47 and 86 years and a 25-years old female.

Putative candidate genes at 6p21 include CCND3 at 6p21.1 and MHC complex, NOTCH4, BAK1, FANCE, ETV7, HMGA1, FKBP5 at 6p21.3 (La Starza et al., 2006).

Found in association with +11 in AML-M2 and with +8 during MDS phase in the present patient in whom progression from MDS to AML was accompanied by an appearance of a new clone, t(9;22)(q34;q11) with the minor p190 BCR/ ABL1 transcript as an additional anomaly to initial chromosome abnormalities. Found in a sideline in AML with t(3;3)(q21;q26.2) and monosomy 7.

The chromosomal translocation t(6;17)(p21;p13) is a rare anomaly that has been described in myeloid malignancies. Found in association with numerical chromosome anomalies such as +11, +8 and -7, therefore t(6;17)(p21;p13) is probably a secondary anomaly arising from a genetically unstable progenitor cell, acquiring subsequent genetic events. As these trisomies and monosomy 7 are known numerical aberrations in MDS and AML, it is likely that the occurrence of numerical anomalies may be a major pathogenetic event in these patients. Alternatively, it is possible that t(6;17)(p21;p13) was a primary anomaly associated with the early stage of disease that was replaced by a clone containing numerical anomalies during the course of a hematologic malignancy. The acquisition of t(9;22)(q34;q11) to initial anomalies in 1 patient indicates, that the Ph is certainly a secondary event that arose through multiple cytogenetic evolutions, the final event of which was the development of t(9;22)(q34;q11).