Cytogenetic and molecular studies of the Philadelphia translocation in myelodysplastic syndromes: Report of two cases and review of the literature

doi:10.1016/0165-4608(92)90209-Q

Cancer Genetics and Cytogenetics

Volume 59, Issue 2, April 1992, Pages 161-166

https://doi.org/10.1016/0165-4608(92)90209-Q Get rights and content

Abstract

We report two patients with a myelodysplastic syndrome and the Philadelphia (Ph) chromosome. The first patient was a 73-year-old man who was diagnosed as having a chronic myelomonocytic leukemia in combination with features suggestive of a myeloproliferative syndrome. Chromosomal analysis showed a normal karyotype in the majority of cells, mixed with metaphases containing a standard Ph translocation, t(9;22)(q34;q11), as well as a translocation between chromosome 4 and 6: t(4;6)(p15;p12). Southern blot analysis showed breakpoint cluster region rearrangement as observed in classic chronic myeloid leukemia. The second patient was a 63-year-old man with a myelodysplastic syndrome, type refractory anemia. Cytogenetic study of bone marrow cells at the time of diagnosis revealed a normal karyotype: 46,XY. The initial myelodysplastic syndrome evolved to a myeloproliferative phase with progressive leukocytosis and thrombocytosis. During the terminal phase the Ph chromosome was discovered in 100% of the examined cells. We discuss the correlation between MDS and myeloproliferative diseases, the de novo acquisition of the Ph chromosome during the course of a myelodysplastic syndrome, and review the literature.

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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.
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^☆: Supported by the Interuniversity Network for Fundamental Research, sponsored by the Belgian Government (1987–1991).

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Cytogenetic and molecular studies of the Philadelphia translocation in myelodysplastic syndromes: Report of two cases and review of the literature☆

Abstract

Blood

Lancet

Blood

Blood

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Blood

Blood

A new consistent chromosomal abnormality in chronic myelogeneous leukaemia identified by quinacrine fluorescence and Giemsa staining

Nature

A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia

Nature

Localization of the c-abl oncogene adjacent to a translocation breakpoint in chronic myelocytic leukaemia

Nature

The Chromosomes in Human Cancer and Leukemia

Recurring chromosomal abnormalities in leukemia and lymphoma

Cancer Surveys