PMC8077425_01
Case 1. A FISH analysis on metaphase and interphase with an LSI ETV6/RUNX1 ES Dual Color Translocation Probe Set (Vysis). B SNP array revealed the highest level of amplification located within the RUNX1 locus.
cro-0014-0592-g01.jpg
PMC8077425_01_cro-0014-0592-g01.jpg
F1
Metaphases showed that extra signals were clustered together and located on abnormal chromosomes difficult to identify (Fig. 1A). Loss of heterozygosity of the entire chromosome 22 was also demonstrated (Fig. 1B).
PMC8077425_02
Case 2. A FISH analysis on metaphase and interphase with an LSI ETV6/RUNX1 ES Dual Color Translocation Probe Set (Vysis). B SNP array revealed the highest level of amplification located within the RUNX1 locus.
cro-0014-0592-g02.jpg
PMC8077425_02_cro-0014-0592-g02.jpg
F2
However, FISH revealed 8-9 signals of RUNX1 in 91% interphase cells (Fig. 2A). In addition, the test also showed deletion of band 21q22.3 (PTTG1IP, S100B, CSTB, U2AF1), loss of heterozygosity within the long arm of chromosome 12, and a mosaic loss of heterozygosity within the long arm of chromosome 1 (Fig. 2B).
PMC8077425_03
Case 3. A FISH analysis on metaphase and interphase with an LSI ETV6/RUNX1 ES Dual Color Translocation Probe Set (Vysis). B SNP array revealed the highest level of amplification located within the RUNX1 locus.
cro-0014-0592-g03.jpg
PMC8077425_03_cro-0014-0592-g03.jpg
F3
The FISH study revealed no rearrangements in BCR/ABL1, KMT2A, or ETV6/RUNX1, but revealed 8-10 signals of RUNX1 in 24.4% of interphase cells (Fig. 3A). Furthermore, analysis showed duplication of the entire long arm of chromosome 9 and deletion within chromosome 14q23.2-q31.3 (Fig. 3B).