PMC8056354_01
Relevant genetic aberrations detected by NGS in patient's sample. A) Mutations in ASXL1, CBL, SRSF2 and TET2 genes, presented as screenshots from IGV. *Provided is an ID of an ASXL1 mutation which arises from insA instead of G but results in a similar frameshift. VAF - variant allele frequency. B) Focal deletion on chr12 detected in sequencing coverage analysis, resulting in monoallelic loss of locus containing ETV6 and CDKN1B. C) Allele frequencies of common variants detected on chromosome 11 in patient sample. Each point of the chart represents VAF of a single variant. VAF shift on 11q arm suggests a loss-of-heterozygosity event
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F1
ASXL1, CBL, SRSF2 and TET2 genes (Fig. 1A). Moreover, copy-number variants (CNV) analysis (Supplementary materials and methods) revealed focal deletion in chromosome 12 affecting ETV6 and CDKN1B genes (Fig. 1B), previously described in acute myeloid leukemia (AML) with complex karyotype (Supplementary materials and methods) and T-cell prolymphocytic leukemia. Also copy-neutral loss of heterozygosity was detected in chromosome 11 (Fig. 1C) affecting the CBL gene, which explains higher variant allele frequency (VAF) for the mutation identified in CBL (76%).
Clinical course of MPN-U and GCA with donor chimerism evaluation after first allogeneic hematopoietic stem cell transplant
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F2
The clinical course of MPN and GCA with the donor chimerism evaluation is summarized in Figure 2.