Add like
Add dislike
Add to saved papers

Myeloid malignancies with somatic GATA 2 mutations can be associated with an immunodeficiency phenotype.

Germline mutations in GATA 2 are associated with a complex immunodeficiency and cancer predisposition syndrome. Somatic GATA 2mut in myeloid malignancies may impart a similar phenotype. We reviewed adult patients with a diagnosis of GATA 2mut hematological malignancy who were referred to our HHMC for genetic testing, and identified to have somatic GATA 2mut . Nine patients with a median age of 63 years were included. Six patients (66.7%) were males. Atypical CML and acute myeloid leukemia were the most common initial presentation. The median overall VAF was 47.14%. Monocytopenia was pronounced when the GATA 2mut involved the C-terminal ZFD. GATA 2 N-terminal ZFD mutations tend to be co-mutated with biCEBPAmut . Unlike germline GATA 2 mutations, monocytopenia associated with somatic GATA 2 mutations often resolved at remission. We concluded that similar to germline GATA 2 mutations, a subset of somatic GATA 2 mutations can impart a germline phenotype.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app