Absence of the Y Chromosome in Patients with Chronic Granulocytic Leukaemia

Abstract

The Y chromosome was missing from the cells of aspirated bone marrow in 2 patients with chronic granulocytic leukaemia (CGL). In both cases, blast cell transformation occurred within 17 months of presentation. Their short course is in contrast to the hypothesis that absence of the Y chromosome in CGL is compatible with long survival.

Loss of the Y Chromosome from Bone Marrow Cells of Males with Myeloproliferative Disorders

“…In contrast to this, several males of various age groups suffer ing from CML have been observed who lost the Y chromosome in a part of or usually all of the affected bone marrow cells. In tables I and II, the CML cases [17,55] have been reported paralleling the 2 cases reported in this paper. Of the two cases from the literature, one had a survival time of 24 months before dying from a blastic crisis [55].…”

Missing Y Chromosome in 2 Patients with Chronic Myelocytic Leukemia

“…missing Y chromosome in 100% of the analyzed metaphases (without PHA stimulation), is established for Ph'-positive and Ph'-negative CML [3,6,10]. Loss of the Y chromosome can be found only in bone marrow preparations and unstimulated peripheral blood sam ples, while PHA-stimulated lymphocytes show a nor mal male karyotype like any other somatic cells such as fibroblasts [3,13,14,17], Thus, the gonadal func tion is not impaired, as proved by patient 2, who has 2 healthy children.…”

“…Sandberg and Sakurai [5] and Sandberg [10] postu lated a much more favorable prognosis in patients without Y chromosome because he observed acute leukemia only in cells with other accompanying aber rations, but other authors [4,7,19] reported AML pa tients without Y chromosome only. Ph'-positive CML patients without Y chromosome are described by some authors as having a favorable prognosis in com parison to Ph'-positive patients whose Y chromo some is present; others deny this [10,13,14]. Our pa tient 1 (Ph'-positive) showed absence of the Y chro mosome in the blastic phase and had a short survival time of 15 months after diagnosis which corresponds with that reported by Whittaker et al [14] and Swolin et al [20], lending no support to the thesis of better prognosis for Ph'-positive CML patients without Y chromosome.…”

“…Ph'-positive CML patients without Y chromosome are described by some authors as having a favorable prognosis in com parison to Ph'-positive patients whose Y chromo some is present; others deny this [10,13,14]. Our pa tient 1 (Ph'-positive) showed absence of the Y chro mosome in the blastic phase and had a short survival time of 15 months after diagnosis which corresponds with that reported by Whittaker et al [14] and Swolin et al [20], lending no support to the thesis of better prognosis for Ph'-positive CML patients without Y chromosome.…”

“…Loss of the Y chromosome is also observed in old er males with no hematological disease [11,12] and therefore often interpreted as an age-related phenom enon. This shows that the diagnostic relevance as well as the prognostic value of the 'missing Y chromo some' discussed in the literature are controversial [13,14],…”