case_images: PMC8808311_01
case_images: A) Data concerning percentage content of bone marrow blasts, ring sideroblasts, peripheral blood chimerism, implemented treatment, performed molecular analysis and additional information during the course of the patient's disease. B) Allele frequency results for selected DNA sequence variants (obtained by NGS and pyrosequencing) in BM, PB and SAL as well as information about AF for healthy control and AF cut-off value for selected DNA sequence variants. C) Electrophero- grams presenting results of pyrosequencing (c.1945G>T ASXL1; c.1874G>T SF3B1; c.4044+2dupT TET2; c.4076G>T TET2) performed in: I - May 2009, II - January 2017, III - May 2018
case_images: CEJI-46-45715-g001.jpg
case_images: PMC8808311_01_CEJI-46-45715-g001.jpg
case_images: F1
case_images: Scoring System (IPSS-R)). In November 2010 due to transformation to secAML the patient underwent conventional chemotherapy with daunorubicin and cytarabine (without hypomethylating agents) followed by alloHCT (May 2011). Second alloHCT (preceded by treatment with chemotherapy with daunorubicin and cytarabine) was performed in February 2015 and third alloHCT (preceded by hypomethylating agents) was performed in March 2018 (Fig. 1). Moreover, for analyzed DNA sequence variants, AF levels obtained by pyrosequencing in BM and SAL were very similar (Fig. 1). AF was 49.2%, 34.5%, 44.1%, 44.7%, respectively (Fig. 1). All detected variants were reported in hematological malignancies according to the Catalogue of Somatic Mutations in Cancer (COSMIC) database; however, except for c.1874G>T SF3B1, the remaining three variants had not been identified in MDS patients so far. AF of above-mentioned variants was determined as 47%, 35.5%, 33.6% and 39.6%, respectively (Fig. 1). AlloHCT from an unrelated donor was performed in May 2011 in complete remission (CR) according ELN 2017 treatment response criteria.