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Inositide-specific phospholipase c β1 gene deletion is a rare event in myelodysplastic syndromes

Leukemia volume 20, pages 521–522 (2006)Cite this article

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders characterised by ineffective haematopoiesis. According to the French-American-British (FAB) classification, MDS are subdivided in five groups including refractory anemia (RA), refractory anemia with ring sideroblasts (RARS), refractory anemia with excess of blasts (RAEB), refractory anemia with excess of blasts in transformation (RAEB-t) and chronic myelomonocytic leukemia (CMML). MDS occur predominantly in elderly patients and evolve in acute myeloid leukemia (AML) in about 30% of the cases after variable intervals from diagnosis.1 Recently, Lo Vasco et al2 identified a cryptic deletion of band 20p12.3, involving the Inositide-specific phospholipase c β1 gene (PI-PLC β1), in MDS and AML patients with normal karyotypes. In their series, the deletion was frequent and observed in 33% (2/6) of AML cases and 44% (4/9) of MDS patients. Moreover, the deletion identified a MDS subgroup with normal karyotype and poor prognosis. Patients of this group were at high risk of developing AML with short survival periods (within 1–12 months after developing AML). Search for a deletion of the PI-PLC β1 gene appears thus to be of prognostic importance. However, the number of patients included in the series of Lo Vasco et al2 was low (nine MDS and six AML patients) and, till now, no others studies have confirmed these findings.

In the present report, we assessed the frequency of PI-PLC β1 deletion in 23 MDS and seven AML patients with a normal karyotype at diagnosis (Table 1). FISH investigations were performed with the same probe as in Lo Vasco's study, that is the PAC clone HS881E24 from P de Jong RPCI-5 PAC library. Our series included 17 men and 13 women, aged 25–96 years. The mean age of the MDS and AML populations was, respectively, of 71.9 and 52.2 years (Table 1). Patients no. 1, 12, 20, 21 and 22 developed AML within periods of 6–20 months after the diagnosis. Cytogenetic follow-ups were available for cases no. 11–13, 16, 18 and 20–29. An abnormal karyotype was never identified during follow-ups. Patients no. 18, 21 and 25–29 underwent nonmyeloablative stem cell transplantations.

Table 1 Patients data
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References

  1. Steensma DP, Tefferi A . The myelodysplastic syndrome(s): a perspective and review highlightening current controversies. Leuk Res 2003; 27: 95–120.

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  2. Lo Vasco VR, Calabrese G, Manzoli L, Palka G, Spadano A, Morizio E et al. Inositide-specific phospholipase c β1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukaemia. Leukemia 2004; 18: 1122–1126.

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Authors and Affiliations

  1. Department of human Genetics, CHU, University of Liège, Liège, Belgium

    C Herens, S Hansen & V Bours

  2. Department of Clinical Biology, CHR Citadelle, Liège, Belgium

    O Ketelslegers

  3. Department of Clinical Biology, Laboratory Haematology, CHU, University of Liège, Liège, Belgium

    F Tassin

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  1. C Herens
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  2. O Ketelslegers
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  3. F Tassin
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  4. S Hansen
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  5. V Bours
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Correspondence to C Herens.

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Herens, C., Ketelslegers, O., Tassin, F. et al. Inositide-specific phospholipase c β1 gene deletion is a rare event in myelodysplastic syndromes. Leukemia 20, 521–522 (2006). https://doi.org/10.1038/sj.leu.2404109

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