Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia—retrospective study and review of literature

• Published in: Leukemia research 2004-06, Vol.28 (6), p.579-586
• Main Authors: Keung, Yi-Kong, Beaty, Michael, Powell, Bayard L, Molnar, Istvan, Buss, David, Pettenati, Mark
• Format: Article
• Language: English
• Subjects: Acute Disease; Aged; Anemia, Refractory - genetics; Anemia, Refractory - pathology; Chromosome; Chromosomes, Human, Pair 22 - genetics; Chromosomes, Human, Pair 9 - genetics; DNA, Neoplasm - genetics; Female; Humans; Leukemia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - pathology; Leukemia, Myeloid - genetics; Leukemia, Myeloid - pathology; Male; Middle Aged; Myelodysplastic syndrome; Myelodysplastic Syndromes - genetics; Myelodysplastic Syndromes - pathology; Retrospective Studies; Translocation, Genetic
• ISSN: 0145-2126; 1873-5835
• DOI: 10.1016/j.leukres.2003.10.027

We conducted a retrospective study to define the significance of Philadelphia chromosome (Ph) in myelodysplastic syndrome and acute leukemia in the adults at this institution and the literature was reviewed. One hundred forty-eight cases of t(9;22)(q34;q11) were identified for the period September 1993 through August 2001. The presentation of 124 cases (84%) was that of typical CML in chronic phase. Nineteen cases (13%) presented as de novo ALL, two cases (1%) presented as de novo AML and three cases (2%) presented as myelodysplastic syndrome (MDS). The estimated incidences of t(9;22)(q34;q11) in ALL and AML are 21 and 0.6%, respectively. Ph+ AMLs are increasingly being reported with either M-BCR or m-BCR gene rearrangements, similar to those found with Ph+ ALL lending support to the notion that Ph+ AMLs are distinct entities and not merely blastic phases of undiagnosed CML. This is further supported by the existence of Ph+ MDS cases.