Acquired ribosomopathies in leukemia and solid tumors.
Acquired ribosomopathies in leukemia and solid tumors. Hematology Am Soc Hematol Educ Program. 2017 Dec 08;2017(1):716-719 Authors: Vlachos A Abstract A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene defects responsible for the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA). Additional inherited and acquired defects in ribosomal proteins (RPs) continue to be identified and are the basis for a new class of diseases called the ribosomopathies. Acquired RPS14 haploinsufficiency has been found to be causative of the bone marrow failure found in 5q- myelodysplastic syndromes. Both under- and overexpression of RPs have also been implicated in several malignancies. This review will describe the somatic ribosomopathies that have been found to be associated with a variety of solid tumors as well as leukemia and will review cancers in which over- or underexpression of these proteins seem to be associated with outcome. PMID: 29222326 [PubMed - in process]
Authors: Arnouil N, Gelet A, Matillon X, Rouviere O, Colombel M, Ruffion A, Mège-Lechevallier F, Subtil F, Badet L, Crouzet S Abstract OBJECTIVE: To analyse the functional and oncologic outcomes at one year of focal therapy with HIFU compared with total prostatectomy in patients with localised prostate cancer (PCa). PATIENTS AND METHODS: Retrospective and monocentric study from 2008 to 2014 comparing 2 cohorts of patients with localised PCa (T1/T2 clinical stage, Gleason score≤3+4=7 and PSA
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Inherited forms of myelodysplastic syndrome (MDS) and myeloid or lymphoid leukemia have long been associated with several constitutional disorders in children. The first report on an inherited bone marrow failure syndrome (IBMFS) with high risk for the development of myeloid neoplasia (MN) dates back to exactly 90 years ago when the Swiss pediatrician Guido Fanconi described a series of patients with physical anomalies and pernicious anemia. Since then a number of additional IBMFS and inherited conditions with leukemia predisposition such as Down syndrome, Ras-pathway disorders or Li-Fraumeni syndrome and other hereditary ...
In this study, we tested a radiation-free conditioning regimen with a T-cell–depleted graft to eliminate radiation exposure and minimize early and late toxicities of transplant. Forty-five patients (median age, 8.2 years; range 4.3-44) with FA underwent HCT between June 2009 and May 2014. The preparative regimen included busulfan, cyclophosphamide, fludarabine, and rabbit anti-thymocyte globulin. Busulfan levels were monitored to avoid excess toxicity. All grafts were CD34-selected/T-cell–depleted using the CliniMacs CD34 columns (Miltenyi). Thirty-four patients (75.6%) with marrow failure and 11 (24.4%) with m...
Abstract Essential facts Haematological malignancies are a diverse group of cancers that affect the blood, bone marrow and lymphatic systems. The main categories are lymphoma, leukaemia, myeloma, myelodysplastic syndromes and myeloproliferative neoplasms. In addition, there are subtypes of lymphoma and leukaemia, as well as more rare haematological cancers that have their own categories. There are also borderline conditions such as aplastic anaemia and other non-malignant bone marrow failure syndromes. The charity Bloodwise says 38,000 people in Britain are diagnosed every year with blood cancer or a related disor...