The utility of fluorescence in situ hybridization testing in patients clinically suspected of myelodysplastic syndrome or myelodysplastic syndrome/myeloproliferative neoplasm overlap is limited in the absence of significant morphological dysplasia

2020 ◽  
Vol 42 (6) ◽  
Author(s):  
Harpreet Virk ◽  
Sonia Rana ◽  
Alpeshkumar B. Kapadia ◽  
Sreejesh Sreedharanunni ◽  
Nabhajit Mallik ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Myelodysplastic Syndrome ◽  
Fluorescence In Situ Hybridization ◽  
Myeloproliferative Neoplasm

scholarly journals Monitoring of the Clonal Fraction by Fluorescence In Situ Hybridization in Myelodysplastic Syndrome: Comparison With International Working Group Treatment Response Criteria

2016 ◽  
Vol 140 (6) ◽  
pp. 560-569 ◽  
Author(s):  
Jae Hyeon Park ◽  
Miyoung Kim ◽  
Sun-Young Kong ◽  
Sung-Soo Yoon ◽  
Dong Soon Lee
Keyword(s):  
In Situ Hybridization ◽  
Myelodysplastic Syndrome ◽  
Fluorescence In Situ Hybridization ◽  
Working Group ◽  
Initial Diagnosis ◽  
Response Criteria ◽  
Clone Size ◽  
International Working Group

At the initial diagnosis of myelodysplastic syndrome (MDS) and/or during follow-up, the evaluation of chromosomal abnormalities is based on standard G-banding, whereas the utility of fluorescence in situ hybridization (FISH) is still debated.Context.— To investigate whether interphase fluorescence in situ hybridization (iFISH) clone size at initial diagnosis of MDS is correlated with survival and whether changes in clonal fraction by iFISH are concordant with the MDS International Working Group response criteria during follow-up.Objectives.— A tailored FISH panel (−5/5q−, −7/7q−, +8, −20/20q−, and +1/1q+), based on reported cytogenetic changes in Korean patients with MDS, was performed in 81 patients with MDS at initial diagnosis and in 28 patients during follow-up.Design.— During follow-up, absolute increases in the clone size by iFISH by 20% or more, with relative increases of 50% or more, compared with previous specimens, were associated with transformation to acute myeloid leukemia (P = .001 and P = .002, respectively). Of the 28 patients with abnormal iFISH results, 7 (25%) showed discordance between iFISH and MDS International Working Group responses. Concordance between clone size by G-banding and iFISH was higher in the refractory cytopenia with unilineage dysplasia/refractory cytopenia with multilineage dysplasia group during follow-up, whereas the group with refractory anemia with excess blasts showed higher correlation at initial diagnosis.Results.— We conclude that iFISH can provide additional prognostic information and can predict the response to therapy in MDS.Conclusions.—

scholarly journals Fluorescence in situ hybridization analysis of t(3; 12)(q26; p13): a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes

Blood ◽  
1996 ◽  
Vol 88 (2) ◽  
pp. 682-689 ◽  
Author(s):  
SD Raynaud ◽  
M Baens ◽  
J Grosgeorge ◽  
K Rodgers ◽  
CD Reid ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Myelodysplastic Syndrome ◽  
Fluorescence In Situ Hybridization ◽  
Myeloid Leukemia ◽  
Poor Prognosis ◽  
Blast Crisis ◽  
Myelogenous Leukemia ◽  
Molecular Cytogenetic ◽  
Blastic Phase

We have identified a new recurrent reciprocal translocation between chromosome 3 and 12 with breakpoints at bands 3q26 and 12p13, t(3;12)(q26;p13) in the malignant cells from five patients with acute transformation of myelodysplastic syndrome or blast crisis of chronic myelogenous leukemia. t(3;12)(q26;p13) appears as a rare but nonrandom event present in various myeloid leukemia subtypes, which is frequently associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and a very poor prognosis. Here, we report the molecular cytogenetic analysis of the t(3;12). Fluorescence in situ hybridization results indicate that the 3q26 breakpoints are quite heterogeneous and occur 5′ of MDS1, 3′ of EVI1, or between MDS1 and EVI1. Our results are very similar to those observed in other 3q26 rearrangements in which breakpoints were shown to occur over considerable distances 5′ and 3′ of EVI1. Fluorescence in situ hybridization investigations proved that, in three myelodysplastic syndrome cases with t(3;12)(q26;p13), the 12p 13 breakpoint occurred within the TEL gene.

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