Amel Senouci1, Thomas Smol2, Sabine Tricot3, Jania Bakala4, Soraya Moulessehoul1, Benoît Quilichini5, Dominique Penther6, Charles Herbaux7, Agnès Daudignon2. 1. Laboratoire de Bio-toxicologie, Université de Sidi Bel Abbès, Sidi Bel Abbès, Algeria. 2. Institut de Génétique Médicale, CHU de Lille, Lille, France. 3. Service d'Hématologie Clinique, CH de Valenciennes, Valenciennes, France. 4. Service d'Hématologie Clinique, CH de Lens, Lens, France. 5. Service de Cytogénétique, Laboratoire Biomnis, Lyon, France. 6. Service de Génétique Oncologique, Centre Henri Becquerel, Rouen, France. 7. Service des Maladies du Sang, CHU de Lille, Lille, France.
Abstract
BACKGROUND: Chronic lymphocytic leukemia (CLL) stratification mainly relies on FISH markers according to Döhner's hierarchical model which includes high-risk FISH markers, intermediate FISH, or low-risk FISH. Recently, complex karyotype (CK) has been demonstrated as an independent negative prognostic factor in CLL. METHODS: A series of 1012 untreated CLL patients have been investigated with both FISH and chromosome banding analysis (CBA) on the same pellet obtained from interleukin IL-2-CPG DSP30 oligonucleotide-stimulated cultured cells. RESULTS: Combining both FISH and CBA has led to refine prognostic categories with identification of 30% of CK in low-risk and intermediate FISH group. This raises the issue of switching them to a high-risk group. While this series confirmed the significant association between CK and high-risk FISH (P = .003), 33% of CK present no ATM or TP53 deletion. Three groups characterized by significant association between FISH markers and CBA have emerged: CK with TP53 loss and monosomy 15; CK with ATM loss and 14q32 translocation; and CK without ATM or TP53 losses but trisomies 12, 18, and 19 or t(14;18)(q32;q21). CONCLUSION: We have observed that in addition to FISH analysis, the CBA allows detection of many abnormalities with potential impact on patient follow-up and treatment, mainly CK.
BACKGROUND: Chronic lymphocytic leukemia (CLL) stratification mainly relies on FISH markers according to Döhner's hierarchical model which includes high-risk FISH markers, intermediate FISH, or low-risk FISH. Recently, complex karyotype (CK) has been demonstrated as an independent negative prognostic factor in CLL. METHODS: A series of 1012 untreated CLL patients have been investigated with both FISH and chromosome banding analysis (CBA) on the same pellet obtained from interleukin IL-2-CPG DSP30 oligonucleotide-stimulated cultured cells. RESULTS: Combining both FISH and CBA has led to refine prognostic categories with identification of 30% of CK in low-risk and intermediate FISH group. This raises the issue of switching them to a high-risk group. While this series confirmed the significant association between CK and high-risk FISH (P = .003), 33% of CK present no ATM or TP53 deletion. Three groups characterized by significant association between FISH markers and CBA have emerged: CK with TP53 loss and monosomy 15; CK with ATM loss and 14q32 translocation; and CK without ATM or TP53 losses but trisomies 12, 18, and 19 or t(14;18)(q32;q21). CONCLUSION: We have observed that in addition to FISH analysis, the CBA allows detection of many abnormalities with potential impact on patient follow-up and treatment, mainly CK.
Authors: F Nguyen-Khac; A Bidet; A Daudignon; M Lafage-Pochitaloff; G Ameye; C Bilhou-Nabéra; E Chapiro; M A Collonge-Rame; W Cuccuini; N Douet-Guilbert; V Eclache; I Luquet; L Michaux; N Nadal; D Penther; B Quilichini; C Terre; C Lefebvre; M-B Troadec; L Véronèse Journal: Leukemia Date: 2022-04-16 Impact factor: 12.883