Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype

G. M. Rigolin, R. Bigoni, R. Milani, F. Cavazzini, M. G. Roberti, A. Bardi, P. Agostini, M. Della Porta, A. Tieghi, N. Piva, A. Cuneo, G. Castoldi

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Abstract

At diagnosis, approximately half of myelodysplastic (MDS) patients presents a normal karyotype by conventional cytogenetic analysis (CCA). Fluorescent in situ hybridization (FISH) is more sensitive than CCA allowing for the detection of minor clones and of submicroscopic lesions. We have analyzed by FISH 101 MDS patients with normal karyotype for the occurrence of the abnormalities which are most frequently observed in MDS (ie -5/5q-, -7/7q-, +8, 17p-). In 18 patients, 15 to 32% of interphase cells were found to carry one FISH abnormality. Six patients presented trisomy 8, five had del(5)(q31), five del(7)(q31), one monosomy 7 and one del(17)(p13). FISH abnormalities were more frequently observed among patients with an increased percentage of bone marrow blasts (P = 0.001). FISH abnormalities were also associated with a higher rate of progression into AML (13/18 vs 12/83, P <0.001) and were predictive for a worse prognosis (P <0.001). Multivariate analysis indicated that FISH positivity and IPSS risk group were independent predictors for a poor survival (P = 0.0057 and 0.0123, respectively) and for leukemic transformation (P = 0.0006 and 0.035, respectively). Leukemic transformation in FISH-positive patients was associated in all cases with an expansion of the abnormal clone. Our data demonstrated that a significant proportion of MDS patients with normal karyotype presented, if analyzed by FISH, clones of cytogenetically abnormal cells which played a determinant role in the progression of the disease. The presence of FISH abnormalities identified a group of MDS patients with normal karyotype characterized by an inferior prognosis.

Original languageEnglish
Pages (from-to)1841-1847
Number of pages7
JournalLeukemia
Volume15
Issue number12
Publication statusPublished - 2001

Fingerprint

Myelodysplastic Syndromes
Interphase
Fluorescence In Situ Hybridization
Karyotype
Cytogenetics
Chromosomes
Clone Cells
Cytogenetic Analysis
Disease Progression
Multivariate Analysis
Bone Marrow
Survival

Keywords

  • FISH analysis
  • Myelodysplastic syndromes
  • Normal karyotype
  • Occult chromosome lesions

ASJC Scopus subject areas

  • Hematology
  • Cancer Research

Cite this

Rigolin, G. M., Bigoni, R., Milani, R., Cavazzini, F., Roberti, M. G., Bardi, A., ... Castoldi, G. (2001). Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype. Leukemia, 15(12), 1841-1847.

Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype. / Rigolin, G. M.; Bigoni, R.; Milani, R.; Cavazzini, F.; Roberti, M. G.; Bardi, A.; Agostini, P.; Della Porta, M.; Tieghi, A.; Piva, N.; Cuneo, A.; Castoldi, G.

In: Leukemia, Vol. 15, No. 12, 2001, p. 1841-1847.

Research output: Contribution to journalArticle

Rigolin, GM, Bigoni, R, Milani, R, Cavazzini, F, Roberti, MG, Bardi, A, Agostini, P, Della Porta, M, Tieghi, A, Piva, N, Cuneo, A & Castoldi, G 2001, 'Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype', Leukemia, vol. 15, no. 12, pp. 1841-1847.
Rigolin GM, Bigoni R, Milani R, Cavazzini F, Roberti MG, Bardi A et al. Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype. Leukemia. 2001;15(12):1841-1847.
Rigolin, G. M. ; Bigoni, R. ; Milani, R. ; Cavazzini, F. ; Roberti, M. G. ; Bardi, A. ; Agostini, P. ; Della Porta, M. ; Tieghi, A. ; Piva, N. ; Cuneo, A. ; Castoldi, G. / Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype. In: Leukemia. 2001 ; Vol. 15, No. 12. pp. 1841-1847.
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abstract = "At diagnosis, approximately half of myelodysplastic (MDS) patients presents a normal karyotype by conventional cytogenetic analysis (CCA). Fluorescent in situ hybridization (FISH) is more sensitive than CCA allowing for the detection of minor clones and of submicroscopic lesions. We have analyzed by FISH 101 MDS patients with normal karyotype for the occurrence of the abnormalities which are most frequently observed in MDS (ie -5/5q-, -7/7q-, +8, 17p-). In 18 patients, 15 to 32{\%} of interphase cells were found to carry one FISH abnormality. Six patients presented trisomy 8, five had del(5)(q31), five del(7)(q31), one monosomy 7 and one del(17)(p13). FISH abnormalities were more frequently observed among patients with an increased percentage of bone marrow blasts (P = 0.001). FISH abnormalities were also associated with a higher rate of progression into AML (13/18 vs 12/83, P <0.001) and were predictive for a worse prognosis (P <0.001). Multivariate analysis indicated that FISH positivity and IPSS risk group were independent predictors for a poor survival (P = 0.0057 and 0.0123, respectively) and for leukemic transformation (P = 0.0006 and 0.035, respectively). Leukemic transformation in FISH-positive patients was associated in all cases with an expansion of the abnormal clone. Our data demonstrated that a significant proportion of MDS patients with normal karyotype presented, if analyzed by FISH, clones of cytogenetically abnormal cells which played a determinant role in the progression of the disease. The presence of FISH abnormalities identified a group of MDS patients with normal karyotype characterized by an inferior prognosis.",
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AU - Roberti, M. G.

AU - Bardi, A.

AU - Agostini, P.

AU - Della Porta, M.

AU - Tieghi, A.

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AU - Cuneo, A.

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