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. 2019 Aug 22;134(8):663-667.
doi: 10.1182/blood.2019852418. Epub 2019 Jun 27.

ETV6-related thrombocytopenia and leukemia predisposition

Jorge Di Paola  1 , Christopher C Porter  2
Affiliations

ETV6-related thrombocytopenia and leukemia predisposition

Jorge Di Paola et al. Blood. .

Abstract

Germ line mutations in ETV6 are responsible for a familial thrombocytopenia and leukemia predisposition syndrome. Thrombocytopenia is almost completely penetrant and is usually mild. Leukemia is reported in ∼30% of carriers and is most often B-cell acute lymphoblastic leukemia. The mechanisms by which ETV6 dysfunction promotes thrombocytopenia and leukemia remain unclear. Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy.

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Conflict of interest statement

Conflict-of-interest disclosure: The authors declare no competing financial interests.

Figures

None
Graphical abstract
Figure 1.
Figure 1.
Abnormal bone marrow histology and CBCs in patients with ETV6-related thrombocytopenia and leukemia predisposition. (A) Abnormal cellular features (yellow arrows) with hyperchromatic small megakaryocytes, disseminated toxic granulations, and dysplastic eosinophils (magnification ×100; Wright-Giemsa stain). (B) Platelet count, white blood cell (WBC) count, hemoglobin (Hgb), mean cell volume (MCV), and mean platelet volume (MPV) in patients (PT) with germ line mutations in ETV6, as compared with related individuals (Rel) without mutation (Student t test).-,,
Figure 2.
Figure 2.
Schematic of ETV6 protein with functional domains and location of germ line mutations from 23 reported pedigrees. The number of families with alterations at the site is indicated in the circles if >1. A deletion that includes all of exon 2 has also been reported. *Germ line deletions in ETV6 involving splice sites.
See this image and copyright information in PMC

References

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