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. 2021 Dec 1;106(12):3245-3248.
doi: 10.3324/haematol.2021.279418.

Dominance of an UBA1 mutant clone over a CALR mutant clone: from essential thrombocytemia to VEXAS

Mehdi Hage-Sleiman  1 , Sophie Lalevée  2 , Hélène Guermouche  1 , Fabrizia Favale  1 , Michael Chaquin  1 , Maxime Battistella  3 , Jean-David Bouaziz  4 , Martine Bagot  5 , François Delhommeau  1 , Florence Cordoliani  2 , Pierre Hirsch  6
Affiliations

Dominance of an UBA1 mutant clone over a CALR mutant clone: from essential thrombocytemia to VEXAS

Mehdi Hage-Sleiman et al. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
Skin and sequential bone marrow morphology. (A) Skin lesions and histopathological findings of skin biopsy, showing infiltration of histiocytoid cells staining positively for myeloperoxidase (MPO). (B) May-Grünwald-Giemsa stained bone marrow (BM) aspirate, exhibiting vacuolated myeloid precursors suggestive for a VEXAS syndrome (upper, BM1 after 10 years; middle, BM2 after 11 years; and lower, BM3 after 11.5 years of evolution after essential thrombocythemia diagnosis).
Figure 2.
Figure 2.
Clonal history of the two diseases. (A) Table of frequencies in bone marrow (BM) and skin biopsy: according to fluorescence in situ hybridization and next generation sequencing data. ND: not detected; y: years. (B) Sanger sequencing electrophoregram, showing mosaic UBA1 c.121A>C variant [NM_153280.3] in skin and successive three BM evaluations (BM1, 2, and 3). (C) Fish plot, representing clonal evolution upon BM evaluations (TET2 mutation is not displayed because of insufficient data in clonal evolution).
See this image and copyright information in PMC

References

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