Prognostic value of clonal chromosomal abnormalities in patients with primary myelodysplastic syndromes

Gyger, M; Infante‐Rivard, Claire; D’Angelo, Giovanni; Forest, L.; Lussier, Pauline

doi:10.1002/ajh.2830280104

Cited by 31 publications

(7 citation statements)

References 35 publications

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“…The presence of clonal abnormalities was not associated with shorter survival, nor did it predict early transformation to AML. Although this observation is not in accordance with the findings of others [ 11-17], we and other investigators have previously shown that only an excess of blasts contributed significantly to the probability of developing AML and shorter survival in patients with MDS as a whole [37,38]. In some series it has been shown that, once complex karyotypes are excluded, chromosome abnormalities per se do not predict early leukemic evolution [34,39,40].…”

Section: Amlsupporting

confidence: 60%

Cytogenetic characterization of primary refractory anemia

Gyger¹,

D’Angelo²,

Bélanger³

et al. 1992

American J Hematol

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Refractory anemia (RA) is the only myelodysplastic syndrome (MDS) devoid of quantitative marrow diagnostic criteria. The diagnosis rests mainly on the subjective identification of qualitative abnormalities according to the French-American-British criteria (FAB) involving one or more bone marrow hematopoietic cell lineages. The occurrence of nonrandom chromosome abnormalities remains the hallmark of the disease and the only means of investigation which confirms the disease objectively. With the purpose in mind to further characterize RA among MDS, we have undertaken a prospective high resolution banding chromosome analyses of bone marrow cells in patients with primary refractory anemia (PRA) with the aim of defining a cytogenetic phenotype and of assessing the clinical relevance of clonal abnormalities at initial diagnosis. Of 39 patients consecutively referred for chromosome analyses with a diagnosis of RA according to the FAB criteria, 27 patients had PRA and fulfilled our criteria for adequate chromosome analyses. Median age was 68 years. Fourteen of 27 patients (52%) had clonal chromosomal abnormalities at diagnosis. None of the patients showed a complex karyotype; 9/14 (64%) had a mixture of normal and abnormal cells. Interstitial or terminal deletions, involving chromosomes 5, 6, 7, 9, 11, 12, and 20, were found in 11/14 (79%) of the patients. Comparison of survival between patients with and without abnormalities showed no difference. The presence of clonal abnormalities did not predict transformation to acute myeloblastic leukemia (AML) nor was it associated with poor survival. In this study, patients with PRA were found to have a predominant pseudodiploid karyotypic pattern characterized by interstitial and/or terminal deletions as opposed to derivatives, specific and non-specific balanced translocations, or other structural and numerical abnormalities. We were unable to reveal any prognostic significance to the presence of these clonal abnormalities at initial diagnosis.

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Section: Amlsupporting

confidence: 60%

Cytogenetic characterization of primary refractory anemia

Gyger¹,

D’Angelo²,

Bélanger³

et al. 1992

American J Hematol

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“…The worst median survival (7 months) was seen in cases with complex karyotypes. They were detected in RAEB (4/58 patients) and RAEB-t (29/40 patients), reaching an overall incidence of 33%, which suggests a non-random association [5, 28,33,34]. Considering AL transformation, no patient with a normal karyotype showed such an evolution, that on the contrary did occur in 46% (12/26) of cases with normal/abnormal mitosis and in 61% (54/ 88) of those with exclusively abnormal clones.…”

Section: Prognosismentioning

confidence: 99%

Karyotype in myelodysplastic syndromes: Relations to morphology, clinical evolution, and survival

et al. 1994

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One hundred eighty-eight unselected consecutive patients with "de novo" myelodysplastic syndrome (MDS) were studied cytogenetically. They were subclassified as 4 refractory anemia with ringed sideroblasts (RARS), 67 refractory anemia (RA), 58 refractory anemia with excess of blasts (RAEB), 40 RAEB in transformation (RAEB-t), and 19 chronic myelomonocytic leukemia (CMML). The overall incidence of chromosome abnormalities was 69%. The RAEB and RAEB-t patients showed karyotypic changes, more often than RA and CMML (76% and 100% vs. 56% and 42%, respectively). The most frequent single anomaly was del(5)(q13-q22q33) (22 cases), followed by monosomy 7 or del 7q (11 cases), del(11) (q14q23) (8 cases), trisomy 8 (4 cases). Complex karyotypes (defined by the presence of three or more structural or numerical abnormalities) were detected in 33 patients. With regard to the FAB classification, del (5)(q13q33) was associated with RA, and complex rearrangements with RAEB and RAEB-t. Leukemic transformation occurred in 66 patients (46%), none with a normal karyotype or del(11)(q14q23) as single abnormality. In patients carrying 5q- alone, acute evolution correlated with proximal breakpoint localization, being found in no case with del(5)(q13q33) but in three out of four cases with del(5)(q22q33). Acute leukemia (AL) progression happened in all cases with complex rearrangements and monosomy 7 or del(7q). Two of the four trisomy eight patients evolved in AL. By using the Cox proportional hazard regression analysis it was demonstrated that the karyotype abnormality was a significant predictor of leukemic transformation (P < 0.001). Patients with abnormal karyotypes without complex abnormalities had a survival (median survival 12 months) shorter than that of cases with only normal metaphases (median 83 months) (P < 0.001); patients with a mixture of normal/abnormal metaphases had a median survival of 31 months. The median survival for complex karyotypes was 7 months. Among cases with single defects, del(5)(q13q33) showed the best survival (64 months), monosomy 7 and del(7q) the worst (7 months) (P < 0.001).

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“…The majority of reported studies answer this question in the affirmative, particularly for complex ab normalities, involving more than one chromosome [8,[34][35][36][37], However, other studies have challenged these conclusions [9,[38][39][40][41]. The reason for these diverging results is not entirely clear.…”

Section: Clinical and Prognostic Importance Of The Karyotypic Aberratmentioning

confidence: 63%

Cytogenetics and Its Prognostic Value in Myelodysplastic Syndromes

Verhoef¹,

Boogaerts²

1996

Acta Haematol

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In this review we describe the cytogenetics of primary and secondary myelodysplastic syndromes, discuss their relationship with other hemopoietic malignancies, and also attempt to put the described chromosome abnormalities into a clinically more useful perspective by emphasizing the prognostic impact they carry. In addition, we discuss their use as clonal markers in determining the mode of action and efficiency of different therapeutic approaches.

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Prognostic value of clonal chromosomal abnormalities in patients with primary myelodysplastic syndromes

Cited by 31 publications

References 35 publications

Cytogenetic characterization of primary refractory anemia

Cytogenetic characterization of primary refractory anemia

Karyotype in myelodysplastic syndromes: Relations to morphology, clinical evolution, and survival

Cytogenetics and Its Prognostic Value in Myelodysplastic Syndromes

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