Is fluorescence in-situ hybridization sufficient in patients with myelodysplastic syndromes and insufficient cytogenetic testing?. Issue 3 (23rd February 2019)

• Record Type: Journal Article
• Authors: Merkel, Drorit; Soffer, Shelly; Novikov, Iliya; Avigdor, Abraham; Amariglio, Ninette; Nagler, Arnon; Trakhtenbrot, Luba
• Is Part Of: Leukemia & lymphoma. Volume 60:Issue 3(2019)
• Page Start: 764
• Page End: 771
• Publication Date: 2019-02-23
• Subjects: Cytogenetics -- molecular genetics -- myeloid leukemias and dysplasias; Leukemia -- Periodicals; Lymphomas -- Periodicals; 616.99419
• DOI: 10.1080/10428194.2018.1493729
• Languages: English
• ISSNs: 1042-8194

Abstract

Abstract: Chromosome banding analysis (CBA) in myelodysplastic syndromes (MDS) remains the 'gold standard' for identification of chromosomal abnormalities, while interphase fluorescence in-situ hybridization (I-FISH) is mainly used to complement CBA. This study, retrospectively, evaluated CBA and I-FISH results in 600 patients with suspected MDS and determined the effect of CBA/FISH reallocation on IPSS-R. Our result demonstrated that in 7/586 (1.2%) patients with satisfactory karyotype, I-FISH provided additional information. In 25/453 (5.5%) of the patients with normal I-FISH, CBA detected chromosomal abnormalities, and in 68/147 (46%) of the patients with abnormal I-FISH, CBA detected additional chromosomal aberrations. When 5q- aberration was alone or accompanied by additional abnormalities by I-FISH, CBA revealed a complex karyotype (16/25;64%, 35/43;81%, respectively). Our results suggest that in cases of karyotype failure, if I-FISH is used alone, patients are at risk of being misclassified into the wrong cytogenetic risk groups and a repeat sample for CBA should be attempted.