Duplication 14q32, leukemia and myelodysplastic syndrome

Chromosome 14 ideogram

Familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32.

Myeloid neoplasms refer to conditions involving abnormal growth and function of white blood cells. About 10% of patients with myeloid neoplasms are thought to have a genetic predisposition to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).

A recent study described a West Indian family with a unique form of myeloid neoplasm. Each of family members with the myeloid neoplasm also had inherited 14q32 duplication – or a duplication of a region within the long arm of chromosome 14. This duplication region included five genes: TCL1A , GSKIP , ATG2B , BDKRB1 , and BDKRB2 . The authors believed that duplication of the ATG2B and GSKIP genes specifically causes of the myeloid malignancies.

This article reports a North American family who had different forms of myeloid malignancies at least in 4 persons in 3 generations. Cytogenetic examination showed that all studied persons with myeloid malignancies had 1.8 Mb duplication of 14q32. However, the only gene duplicated both in the West Indian and North American family is TCL1A. Therefore, duplication of this gene may be a crucial factor for development of myeloid problems.

While ATG2B and GSKIP duplication may not be the cause of myeloid neoplasms, these genes may are likely involved in the process of blood cell production. Therefore, duplication of ATG2B and GSKIP likely contributes to complications in these conditions, but are not required for the conditions to occur.

Babushok, et al. “Germline duplication of ATG2B and GSKIP genes is not required for the familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32”. Leukemia. 2018, in press.

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