Cytogenetic studies and their prognostic significance in agnogenic myeloid metaplasia: a report on 47 cases

Abstract

Cytogenetic analysis was performed in 47 newly diagnosed patients with agnogenic myeloid metaplasia (AMM); 32 had a normal karyotype (68%, group I), whereas 15 had clonal abnormalities (32%, group II). The most frequent abnormal findings were a 20q- deletion in six cases (either alone or within complex anomalies), interstitial 13q- deletion in three cases (and monosomy 13 in one case), and acquired trisomy 21 or 21p+ in three cases. Four cases exhibited complex aberrations involving several chromosomes, sometimes with a mosaicism. In two patients with an initial abnormal karyotype, further cytogenetic analysis during the disease course showed the appearance of additional clonal anomalies, and particularly of a probable Philadelphia (Ph1) variant in one case. Treatment was essentially supportive. Survival was significantly shorter in group II (median, 30 months) compared with group I (median, not reached at 6 years; P = .015). In univariate analysis, other parameters significantly associated with a poor prognosis (P less than .05) were higher age, anemia, and increased percentage of circulating blasts. However, in a multivariate analysis, only cytogenetic abnormalities and age retained their independent prognostic value.

Long‐term survival of infants with idiopathic myelofibrosis

“…Prognosis has been correlated with increased age (Barosi et al, 1988;Cervantes et al, 1997;Dupriez et al, 1997;Reilly et al, 1997), severity of anaemia (Barosi et al, 1988;Visani et al, 1990;Cervantes et al, 1997;Dupriez et al, 1997;Reilly et al, 1997), thrombocytopenia and the extent of the increase in leucocyte count (Dupriez et al, 1997;Reilly et al, 1997). Most recently, karyotypic abnormalities have been reported to be associated with a poor prognosis (Demory et al, 1988;Dupriez et al, 1997;Reilly et al, 1997). The most common cytogenetic abnormalities reported by one study, occurring in over one-third of patients over 68 years of age, were deleted regions within the long arms of chromosomes 13 and 20 (Reilly et al, 1997).…”

Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases

“…The incidence of karyotypic abnormalities in idiopathic myelofibrosis has been difficult to estimate from the literature, with reports varying from 30% to 75% (Besa et al, 1982;Borgström et al, 1984;Demory et al, 1988;Miller et al, 1985;Smadja et al, 1987;Whang-Pang et al, 1978). The current study, however, supports our preliminary findings and those of Dupriez et al (1996), in that approximately a third of cases (34 .…”

“…Deletions of the long arm of chromosome 13 have been associated with idiopathic myelofibrosis by a number of groups (Borgström et al, 1984;Miller et al, 1985;Demory et al, 1988;Reilly et al, 1994). Simple deletions have also been reported in chronic myeloid leukaemia (Sandberg, 1990) and essential thrombocythaemia (Emilia et al, 1993) following myelofibrotic transformation.…”

“…Cytogenetic data in idiopathic myelofibrosis is both sparse and inconclusive when compared to other chronic myeloproliferative disorders, with fewer than 170 abnormal cases having been reported (Mertens et al, 1991;Reilly et al, 1994;Dupriez et al, 1996). The proportion of cases with abnormal karyotypes, for example, varies from 30% to 75% (Besa et al, 1982;Borgström et al, 1984;Demory et al, 1988;Miller et al, 1985;Reilly et al, 1994;Smadja et al, 1987;Whang-Peng et al, 1978;Dupriez et al, 1996), with widely differing frequencies of specific abnormalities.…”

“…A shorter survival has been associated with chromosomal abnormalities by some groups (Demory et al, 1988;Reilly et al, 1994;Dupriez et al, 1996), but not by others (Miller et al, 1985;Whang-Peng et al, 1978). Silverstein (1983), and Dupriez et al (1996) identified hepatomegaly as a significant adverse prognostic factor, in contrast to Rupoli et al (1994) and Varki et al (1983), whereas the importance of age (Iványi et al, 1994;Demory et al, 1988), sex (Dupriez et al, 1996;Visani et al, 1990), leucocyte (Visani et al, 1990;Varki et al, 1983) and platelet counts (Visani et al, 1990;Iványi et al, 1994;Dupriez et al, 1996) remain unclear. In contrast, anaemia has been consistently associated with a shorter survival (Barosi et al, 1988;Dupriez et al, 1996;Hasselbalch & Jensen, 1990;Njoku et al, 1983;Varki et al, 1983;Visani et al, 1990).…”