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Quoted phrase not found in phrase index: "Myelodysplastic Syndrome with Somatic Mutations"
Page 1
Myelodysplastic syndromes.
Li H, Hu F, Gale RP, Sekeres MA, Liang Y. Li H, et al. Nat Rev Dis Primers. 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. Nat Rev Dis Primers. 2022. PMID: 36396662 Review.
Myelodysplastic syndromes (MDS) are a family of myeloid cancers with diverse genotypes and phenotypes characterized by ineffective haematopoiesis and risk of transformation to acute myeloid leukaemia (AML). ...Prognostic systems, such as the revised International Pr …
Myelodysplastic syndromes (MDS) are a family of myeloid cancers with diverse genotypes and phenotypes characterized by ineffec …
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Beck DB, et al. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. JAMA. 2023. PMID: 36692560 Free PMC article.
IMPORTANCE: VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a disease with rheumatologic and hematologic features caused by somatic variants in UBA1. ...RESULTS: In 163 096 participants (mean age, 52.8 years; …
IMPORTANCE: VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a disease with r …
Myelodysplastic syndromes: 2021 update on diagnosis, risk stratification and management.
Garcia-Manero G, Chien KS, Montalban-Bravo G. Garcia-Manero G, et al. Am J Hematol. 2020 Nov;95(11):1399-1420. doi: 10.1002/ajh.25950. Am J Hematol. 2020. PMID: 32744763 Free article. Review.
Myelodysplastic syndromes occur more frequently in older males and in individuals with prior exposure to cytotoxic therapy. ...The most commonly accepted system is the Revised International Prognostic Scoring System (IPSS-R). Somatic mutation …
Myelodysplastic syndromes occur more frequently in older males and in individuals with prior exposure to cytotoxic therapy. .. …
Role of RUNX1 in hematological malignancies.
Sood R, Kamikubo Y, Liu P. Sood R, et al. Blood. 2017 Apr 13;129(15):2070-2082. doi: 10.1182/blood-2016-10-687830. Epub 2017 Feb 8. Blood. 2017. PMID: 28179279 Free PMC article. Review.
RUNX1 is a member of the core-binding factor family of transcription factors and is indispensable for the establishment of definitive hematopoiesis in vertebrates. RUNX1 is one of the most frequently mutated genes in a variety of hematological malignancies. Germ line mu …
RUNX1 is a member of the core-binding factor family of transcription factors and is indispensable for the establishment of definitive hemato …
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Catala A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S; European Working Group of MDS in Children (EWOG-MDS); Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW. Sahoo SS, et al. Nat Med. 2021 Oct;27(10):1806-1817. doi: 10.1038/s41591-021-01511-6. Epub 2021 Oct 7. Nat Med. 2021. PMID: 34621053 Free PMC article.
Germline SAMD9 and SAMD9L mutations (SAMD9/9L(mut)) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. ...Despite inconclusive in silico prediction, 94% of SAMD9/9L(mut) suppressed HEK293 cell growth, and mutati …
Germline SAMD9 and SAMD9L mutations (SAMD9/9L(mut)) predispose to myelodysplastic syndromes (MDS) with propensity for …
Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
Makishima H, Saiki R, Nannya Y, Korotev S, Gurnari C, Takeda J, Momozawa Y, Best S, Krishnamurthy P, Yoshizato T, Atsuta Y, Shiozawa Y, Iijima-Yamashita Y, Yoshida K, Shiraishi Y, Nagata Y, Kakiuchi N, Onizuka M, Chiba K, Tanaka H, Kon A, Ochi Y, Nakagawa MM, Okuda R, Mori T, Yoda A, Itonaga H, Miyazaki Y, Sanada M, Ishikawa T, Chiba S, Tsurumi H, Kasahara S, Müller-Tidow C, Takaori-Kondo A, Ohyashiki K, Kiguchi T, Matsuda F, Jansen JH, Polprasert C, Blombery P, Kamatani Y, Miyano S, Malcovati L, Haferlach T, Kubo M, Cazzola M, Kulasekararaj AG, Godley LA, Maciejewski JP, Ogawa S. Makishima H, et al. Blood. 2023 Feb 2;141(5):534-549. doi: 10.1182/blood.2022018221. Blood. 2023. PMID: 36322930 Free PMC article.
Despite an increasing number of publications, many important features of DDX41-mutated MNs remain to be elucidated. Here we performed a comprehensive characterization of DDX41-mutated MNs, enrolling a total of 346 patients with DDX41 pathogenic/likely-pathogenic (P/ …
Despite an increasing number of publications, many important features of DDX41-mutated MNs remain to be elucidated. Here we performed …
Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes.
Steensma DP, Bejar R, Jaiswal S, Lindsley RC, Sekeres MA, Hasserjian RP, Ebert BL. Steensma DP, et al. Blood. 2015 Jul 2;126(1):9-16. doi: 10.1182/blood-2015-03-631747. Epub 2015 Apr 30. Blood. 2015. PMID: 25931582 Free PMC article.
Recent genetic analyses of large populations have revealed that somatic mutations in hematopoietic cells leading to clonal expansion are commonly acquired during human aging. ...Because mutations are frequently observed in healthy older persons, detect …
Recent genetic analyses of large populations have revealed that somatic mutations in hematopoietic cells leading to clonal exp …
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.
Yoshizato T, Dumitriu B, Hosokawa K, Makishima H, Yoshida K, Townsley D, Sato-Otsubo A, Sato Y, Liu D, Suzuki H, Wu CO, Shiraishi Y, Clemente MJ, Kataoka K, Shiozawa Y, Okuno Y, Chiba K, Tanaka H, Nagata Y, Katagiri T, Kon A, Sanada M, Scheinberg P, Miyano S, Maciejewski JP, Nakao S, Young NS, Ogawa S. Yoshizato T, et al. N Engl J Med. 2015 Jul 2;373(1):35-47. doi: 10.1056/NEJMoa1414799. N Engl J Med. 2015. PMID: 26132940 Free PMC article.
Patients have a response to immunosuppressive therapy, but myelodysplastic syndromes and acute myeloid leukemia develop in about 15% of the patients, usually many months to years after the diagnosis of aplastic anemia. ...DNMT3A-mutated and ASXL1-mutated …
Patients have a response to immunosuppressive therapy, but myelodysplastic syndromes and acute myeloid leukemia develop in abo …
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.
Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG, Aziz A, Godfrey AL, Hinton J, Martincorena I, Van Loo P, Jones AV, Guglielmelli P, Tarpey P, Harding HP, Fitzpatrick JD, Goudie CT, Ortmann CA, Loughran SJ, Raine K, Jones DR, Butler AP, Teague JW, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du MQ, Greaves M, Bowen D, Huntly BJP, Harrison CN, Cross NCP, Ron D, Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR. Nangalia J, et al. N Engl J Med. 2013 Dec 19;369(25):2391-2405. doi: 10.1056/NEJMoa1312542. Epub 2013 Dec 10. N Engl J Med. 2013. PMID: 24325359 Free PMC article.
Patients with myeloproliferative neoplasms carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels than patients with mutated JAK2. ...Clonal analyses showed CALR mutations in the earliest phylogenetic node, a finding consist …
Patients with myeloproliferative neoplasms carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels …
Myelodysplastic Syndromes: New Methods of Diagnosis, Prognostication, and Treatment.
Nachtkamp K, Kobbe G, Gattermann N, Germing U. Nachtkamp K, et al. Dtsch Arztebl Int. 2023 Mar 24;120(12):203-210. doi: 10.3238/arztebl.m2023.0005. Dtsch Arztebl Int. 2023. PMID: 36718105 Free PMC article. Review.
BACKGROUND: Myelodysplastic syndromes (MDS) are malignant diseases arising from hematopoietic stem cells. ...The Molecular International Prognostic Scoring System (IPSS-M), which takes somatic mutations into account, is now available as a …
BACKGROUND: Myelodysplastic syndromes (MDS) are malignant diseases arising from hematopoietic stem cells. ...The Molecular Int …
241 results