Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Feb 9;5(3):791-795.
doi: 10.1182/bloodadvances.2020003401.

A patient with a germline GATA2 mutation and primary myelofibrosis

Cyrill V Rütsche  1 , Eugenia Haralambieva  2 , Veronika Lysenko  1 , Stefan Balabanov  1 , Alexandre P A Theocharides  1
Affiliations
Case Reports

A patient with a germline GATA2 mutation and primary myelofibrosis

Cyrill V Rütsche et al. Blood Adv. .

Abstract

  1. First description of a patient with a germline GATA2 mutation and diagnosis of primary myelofibrosis.

  2. Development of bone marrow failure on a Janus kinase inhibitor.

PubMed Disclaimer

Conflict of interest statement

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

Figures

Figure 1.
Figure 1.
Clinical and laboratory parameters. Longitudinal follow-up of myeloproliferative neoplasm total symptom score, spleen size (A), hemoglobin, platelet (B), and neutrophil count (C).
Figure 2.
Figure 2.
Comparison of BM biopsies at diagnosis and during follow-up. (A) BM biopsy at diagnosis. (B) BM biopsy at follow-up 6 years later. Row 1: (A) H&E stain; scale bar, 500 μm. (B) Giemsa stain; scale bar, 1000 μm. Row 2: (A-B) Gomori methenamine silver stain; scale bar, 100 μm. Row 3: (A-B) CD61 immunohistochemistry; scale bars, 100 μm.
See this image and copyright information in PMC

References

    1. Wieser R, Volz A, Vinatzer U, et al. . Transcription factor GATA-2 gene is located near 3q21 breakpoints in myeloid leukemia. Biochem Biophys Res Commun. 2000;273(1):239-245. - PubMed
    1. Kitajima K, Tanaka M, Zheng J, et al. . Redirecting differentiation of hematopoietic progenitors by a transcription factor, GATA-2. Blood. 2006;107(5):1857-1863. - PubMed
    1. Pevny L, Simon MC, Robertson E, et al. . Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. Nature. 1991;349(6306):257-260. - PubMed
    1. Weiss MJ, Keller G, Orkin SH. Novel insights into erythroid development revealed through in vitro differentiation of GATA-1 embryonic stem cells. Genes Dev. 1994;8(10):1184-1197. - PubMed
    1. Pevny L, Lin CS, D’Agati V, Simon MC, Orkin SH, Costantini F. Development of hematopoietic cells lacking transcription factor GATA-1. Development. 1995;121(1):163-172. - PubMed

Publication types

Substances

LinkOut - more resources