Germline GATA2 Mutation and Bone Marrow Failure

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

Telomerase is a ribonucleoprotein enzyme that is necessary for overcoming telomere shortening in human germ and stem cells. Mutations in telomerase or other telomere-maintenance proteins can lead to diseases characterized by depletion of hematopoietic stem cells and bone marrow failure (BMF). Telomerase localization to telomeres requires an interaction with a region on the surface of the telome...

GATA2 Germline Mutations Impair

GATA2 regulates differentiation of bone marrow-derived mesenchymal stem cells.

The bone marrow microenvironment comprises multiple cell niches derived from bone marrow mesenchymal stem cells. However, the molecular mechanism of bone marrow mesenchymal stem cell differentiation is poorly understood. The transcription factor GATA2 is indispensable for hematopoietic stem cell function as well as other hematopoietic lineages, suggesting that it may maintain bone marrow mesenc...

The Role of Bone Marrow Aspiration and Bone Marrow Biopsy in Diagnosis of Bone Marrow Metastases

Background: Bone marrow is the site of many malignant disorders and it is one of the common places for solid tumors to metastasize. Examination of the bone marrow aspirate and biopsy is a routine procedure performed for assessment of various conditions such as cytopenias, hematologic neoplasms, nonmalignant disorders and metastatic neoplasms. Methods: The patients were referred to the Hema...

Bone marrow failure syndromes.

grelide in young patients with essential thrombocythemia. Blood 2001;97:863-6. 12 Harrison CN, Campbell PJ, Buck G, Wheatley K et al. A randomised comparison of hydroxyurea and anagrelide in highrisk essential thrombocythemia: the Medical Research Countil PT-1 Trial. N Engl J Med (in press). 13 Tefferi A. Myelofibrosis with myeloid metaplasia. Review. N Engl J Med 2000;342: 1255–65. 14 Tefferi ...