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Case Reports
. 2021 Jan 1;106(1):313-315.
doi: 10.3324/haematol.2020.260448.

Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing

Ella R Thompson  1 , Tamia Nguyen  2 , Yamuna Kankanige  1 , Paul Yeh  3 , Michael Ingbritsen  2 , Michelle McBean  2 , Timothy Semple  4 , Gisela Mir Arnau  5 , Kate Burbury  6 , Nora Lee  6 , Amit Khot  6 , David Westerman  7 , Piers Blombery  8
Affiliations
Case Reports

Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing

Ella R Thompson et al. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
Single cell clone analysis of two myeloproliferative neoplasm patients. (A and C) Major clone analysis of patients 1 and 2, respectively, demonstrating allele frequency distribution of single cells within each of the major clones identified by the presence of JAK2 Val617Phe, CALR Lys385Asnfs*47 and TP53 His178Pro mutations in patient 1, and JAK2 Val617Phe and MPL Trp515Ser mutations in patient 2. Zygosity (wild-type [wt], heterozygous [het], homozygous [hom]) is inferred from the median allele frequency (indicated). Variant data were filtered and major clones identified as indicated in the supplementary methods. (B) MCL1 copy number in patient 1 is shown for the corresponding clones, indicating a copy number gain of chromosome 1q21.3 within the JAK2hom;CALRwt;TP53wt clone.
Figure 2.
Figure 2.
Allele frequencies in six JAK2/CALR and seven JAK2/MPL comutated patients detected among a series of 2,664 consecutive diagnostic samples assessed for myeloproliferative neoplasms. The median allele frequency for JAK2 is significantly lower than for either comutated CALR (JAK2 vs. CALR, median 0.32% [range: 0.02-2.83%] versus 24.90% [range: 10.30-43.98%]) or comutated MPL (JAK2 vs. MPL, median 1.96% [range 0.50%- 20.12%] versus 19.88% [range: 8.51-37.61%]).
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References

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