Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Hematology Am Soc Hematol Educ Program. 2017 Dec 08;2017(1):88-95 Authors: Alter BP Abstract Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. This review discusses the major complications that develop as the patients with these syndromes age, as well as additional late effects following hematopoietic stem cell transplantation. The most common complications are iron overload in transfused patients and syndrome-specific malignancies in untransplanted patients, which may occur earlier and with higher risks in those who have received transplants. PMID: 29222241 [PubMed - in process]
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research

Related Links:

Publication date: Available online 20 July 2018Source: Alzheimer's &DementiaAuthor(s): Juan Antonio García-León, Alfredo Cabrera-Socorro, Kristel Eggermont, Ann Swijsen, Joke Terryn, Raheem Fazal, FatemehArefeh Nami, Laura Ordovás, Ana Quiles, Frederic Lluis, Lutgarde Serneels, Keimpe Wierda, Annerieke Sierksma, Mohamed Kreir, Francisco Pestana, Philip Van Damme, Bart De Strooper, Lieven Thorrez, Andreas Ebneth, Catherine M. VerfaillieAbstractTauopathies are neurodegenerative diseases characterized by TAU protein–related pathology, including frontotemporal dementia and Alzheimer's disease amo...
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
Publication date: Available online 20 July 2018Source: American Heart JournalAuthor(s): Nuccia Morici, Fabrizio Oliva, Silvia Ajello, Miriam Stucchi, Alice Sacco, Manlio Gianni Cipriani, Michele De Bonis, Andrea Garascia, Maria Pia Gagliardone, Giulio Melisurgo, Claudio Francesco Russo, Carlo La Vecchia, Maria Frigerio, Federico PappalardoManagement of acute decompensated heart failure (ADHF) patients presenting with cardiogenic shock (CS) is not straightforward, as few data are available from clinical trials. Stabilization before left ventricle assist device (LVAD) or heart transplantation (HTx) is strongly advocated, as ...
Source: American Heart Journal - Category: Cardiology Source Type: research
Publication date: Available online 18 June 2018Source: Clinical Lymphoma Myeloma and LeukemiaAuthor(s): Kian J. Rahbari, Jason D. Nosrati, Tanya M. Spektor, James R. Berenson
Source: Clinical Lymphoma Myeloma and Leukemia - Category: Cancer & Oncology Source Type: research
ConclusionAlthough patients with MYC-R lymphoma have been reported to be at high risk of primary treatment failure, this was not predicted by iPET+ results. Thus, the iPET result should not be used to guide changes in front-line or consolidative therapy for these patients.
Source: Clinical Lymphoma Myeloma and Leukemia - Category: Cancer & Oncology Source Type: research
July 20, 2018 -- The U.S. Food and Drug Administration today approved Tibsovo (ivosidenib) tablets for the treatment of adult patients with relapsed or refractory acute myeloid leukemia (AML) who have a specific genetic mutation. This is the first...
Source: Drugs.com - New Drug Approvals - Category: Drugs & Pharmacology Source Type: news
Publication date: 1 November 2018Source: Materials Science and Engineering: C, Volume 92Author(s): Setareh Esmailian, Shiva Irani, Hadi Bakhshi, Mojgan ZandiAbstractBead-on-string mats based on poly(lactide-co-glycolide) (PLGA) releasing β-carotene (βC) as a natural osteogen were fabricated and used for bone tissue engineering. Mesenchymal stem cells (MSCs) seeded on the scaffolds successfully differentiated to osteoblasts without using any a differential medium. The mats showed a small burst of β-carotene (24–27%) during the first day and a sustained slow release up to 21 days. The MTT and SEM resul...
Source: Materials Science and Engineering: C - Category: Materials Science Source Type: research
Authors: West AH, Churpek JE Abstract Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outc...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. This review discusses the major complications that develop as the patients with ...
Source: Blood - Category: Hematology Authors: Tags: Hematopoiesis and Stem Cells, Transplantation, Review Articles, Clinical Trials and Observations Source Type: research
Publication date: September–December 2014 Source:Best Practice & Research Clinical Haematology, Volume 27, Issues 3–4 Author(s): Blanche P. Alter Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years; the cancers are AML, brain ...
Source: Best Practice and Research Clinical Haematology - Category: Hematology Source Type: research
Abstract Inherited bone marrow failure (IBMF) syndromes are a heterogeneous group of rare hematological disorders characterized by the impairment of hematopoiesis, which harbor specific clinical presentations and pathogenic mechanisms. Some of these syndromes may progress through clonal evolution, myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Most prominent are failures of DNA repair such as Fanconi Anemia and much rarer failure of ribosomal apparatus, e.g., Diamond Blackfan Anemia or of telomere elongation such as dyskeratosis congenita. In these congenital disorders, hematopoietic stem cell tr...
Source: International Journal of Hematology - Category: Hematology Authors: Tags: Int J Hematol Source Type: research
More News: Acute Leukemia | Acute Myeloid Leukemia | Anemia | Bone Marrow Failure Syndrome (BMFS) | Cancer & Oncology | Education | Faconi Anemia | Genetics | Hematology | Iron | Leukemia | Myelodysplastic Syndrome | Stem Cell Therapy | Stem Cells | Transplants | Universities & Medical Training