title: Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia-retrospective study and review of literature.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Comprehensive Cancer Center of Wake Forest University, Medical Center Boulevard, Winston-Salem, NC 27157, USA. ykeung@wfubmc.edu
authors.forename: Yi-Kong
authors.initials: YK
authors.lastname: Keung
authors.forename: Michael
authors.initials: M
authors.lastname: Beaty
authors.forename: Bayard L
authors.initials: BL
authors.lastname: Powell
authors.forename: Istvan
authors.initials: I
authors.lastname: Molnar
authors.forename: David
authors.initials: D
authors.lastname: Buss
authors.forename: Mark
authors.initials: M
authors.lastname: Pettenati
mesh_terms: D000208:Acute Disease; D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics* / Q000473:pathology; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D012189:Retrospective Studies; D014178:Translocation, Genetic
chemical_list: D004273:DNA, Neoplasm