Germline ETV6 mutations and predisposition to hematological malignancies.

Germline ETV6 mutations and predisposition to hematological malignancies. Int J Hematol. 2017 May 29;: Authors: Feurstein S, Godley LA Abstract Patients with thrombocytopenia 5 have an autosomal dominant disorder of decreased platelet number with tendency to bleed, usually presenting in childhood, and have been found to have germline mutations in ETV6, which encodes a master hematopoietic transcription factor. Some patients who present similarly have inherited mutations in RUNX1 or ANKRD26. All three germline syndromes are also associated with a predisposition to myelodysplastic syndrome (MDS) and acute leukemia (AL). Since the first description of germline ETV6 mutations, 18 families have been reported. The common phenotype is mild to moderate thrombocytopenia with a variable predisposition to acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and MDS. This review will focus upon the role of ETV6 in hematopoiesis, especially in myeloid differentiation and maturation, and will describe the functional effects of mutant ETV6. The review will also provide an overview of common clinical features as well as recommendations for patient screening and follow-up and will debate whether additional clinical features should be included with the germline ETV6 syndrome. PMID: 28555414 [PubMed - as supplied by publisher]
Source: International Journal of Hematology - Category: Hematology Authors: Tags: Int J Hematol Source Type: research

Related Links:

Publication date: Available online 13 August 2018Source: The Lancet HaematologyAuthor(s): Tapan M Kadia, Jorge Cortes, Farhad Ravandi, Elias Jabbour, Marina Konopleva, Christopher B Benton, Jan Burger, Koji Sasaki, Gautam Borthakur, Courtney D DiNardo, Naveen Pemmaraju, Naval Daver, Alessandra Ferrajoli, Xuemei Wang, Keyur Patel, Jeffrey L Jorgensen, Sa Wang, Susan O'Brien, Sherry Pierce, Carla TuttleSummaryBackgroundFront-line therapy for elderly or unfit patients with acute myeloid leukaemia (AML) remains unsatisfactory with poor outcomes and excessive toxicity. We studied a new low-intensity regimen of cladribine combin...
Source: The Lancet Haematology - Category: Hematology Source Type: research
ConclusionIncidental findings are common but the majority are of no clinical consequence. No additional cancers were noted in our series. DWI and CE T1-W sequences increased diagnostic confidence in 50% of indeterminate findings; and may reduce the need for further investigation.
Source: Clinical Lymphoma Myeloma and Leukemia - Category: Cancer & Oncology Source Type: research
Emilia Salzmann-Manrique, Melanie Bremm, Sabine Huenecke, Milena Stech, Andreas Orth, Matthias Eyrich, Ansgar Schulz, Ruth Esser, Thomas Klingebiel, Peter Bader, Eva Herrmann, Ulrike Koehl
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
While studying a large group of individuals with chronic lymphocytic leukemia (CLL), a Wilmot Cancer Institute scientific team made an important discovery — these patients had a sizable 600 percent higher risk of melanoma, the most dangerous form of skin cancer.
Source: University of Rochester Medical Center Press Releases - Category: Universities & Medical Training Authors: Source Type: news
ConclusionsThis case highlights a rare late dermatologic presentation of antiphospholipid syndrome, which responded poorly to conventional anticoagulation with warfarin. Current management is limited to experimental therapies and the role of newer anticoagulants is still unknown.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Hematological Oncology,Volume 0, Issue ja, -Not available-.
Source: Hematological Oncology - Category: Hematology Authors: Source Type: research
Publication date: 13 August 2018Source: Cancer Cell, Volume 34, Issue 2Author(s): Marlies Vanden Bempt, Sofie Demeyer, Michaël Broux, Jolien De Bie, Simon Bornschein, Nicole Mentens, Roel Vandepoel, Ellen Geerdens, Enrico Radaelli, Beat C. Bornhauser, Andreas E. Kulozik, Jules P. Meijerink, Jean-Pierre Bourquin, Charles E. de Bock, Jan CoolsSummaryThe NUP214-ABL1 fusion is a constitutively activated tyrosine kinase that is significantly associated with overexpression of the TLX1 and TLX3 transcription factors in T cell acute lymphoblastic leukemia (T-ALL). Here we show that NUP214-ABL1 cooperates with TLX1 in dri...
Source: Cancer Cell - Category: Cancer & Oncology Source Type: research
Publication date: 13 August 2018Source: Cancer Cell, Volume 34, Issue 2Author(s): Stanley Chun-Wei Lee, Khrystyna North, Eunhee Kim, Eunjung Jang, Esther Obeng, Sydney X. Lu, Bo Liu, Daichi Inoue, Akihide Yoshimi, Michelle Ki, Mirae Yeo, Xiao Jing Zhang, Min Kyung Kim, Hana Cho, Young Rock Chung, Justin Taylor, Benjamin H. Durham, Young Joon Kim, Alessandro Pastore, Sebastien MonetteSummaryMutations affecting RNA splicing factors are the most common genetic alterations in myelodysplastic syndrome (MDS) patients and occur in a mutually exclusive manner. The basis for the mutual exclusivity of these mutations and how they co...
Source: Cancer Cell - Category: Cancer & Oncology Source Type: research
We report a case of myelodysplastic syndrome progressing to AML with calreticulin driver mutation in an adult male with TAR syndrome who was successfully treated with hematopoietic allogeneic stem cell transplantation.
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
We report a case of myelodysplastic syndrome progressing to AML with calreticulin driver mutation in an adult male with TAR syndrome who was successfully treated with hematopoietic allogeneic stem cell transplantation.
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
More News: Acute Leukemia | Acute Lymphoblastic Leukemia | Acute Myeloid Leukemia | Cancer & Oncology | Hematology | Leukemia | Myelodysplastic Syndrome | Thrombocytopenia