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New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ. Valent P, et al. Annu Rev Pathol. 2023 Jan 24;18:361-386. doi: 10.1146/annurev-pathmechdis-031521-042618. Epub 2022 Oct 21. Annu Rev Pathol. 2023. PMID: 36270293 Free article. Review.
On the basis of histopathological and molecular features, clinical variables, and organ involvement, SM is divided into indolent SM, smoldering SM, SM with an associated hematologic neoplasm, aggressive SM, and MC leukemia. Each variant is defined by unique diagnost …
On the basis of histopathological and molecular features, clinical variables, and organ involvement, SM is divided into indolent SM, smolder …
Clonal hematopoiesis in hematopoietic stem cell transplantation.
Wilk CM, Manz MG, Boettcher S. Wilk CM, et al. Curr Opin Hematol. 2021 Mar 1;28(2):94-100. doi: 10.1097/MOH.0000000000000631. Curr Opin Hematol. 2021. PMID: 33394723 Review.
PURPOSE OF REVIEW: Clonal hematopoiesis (CH) is characterized by the acquisition of somatic mutations and subsequent expansion of mutated hematopoietic stem and progenitor cell (HSPC) clones without clinical evidence for a hematologic neoplasm. The prevalence of CH …
PURPOSE OF REVIEW: Clonal hematopoiesis (CH) is characterized by the acquisition of somatic mutations and subsequent expansion of mutated he …
Clonal Hematopoiesis: Origins and determinants of evolution.
Mendez LM, Patnaik MM. Mendez LM, et al. Leuk Res. 2023 Jun;129:107076. doi: 10.1016/j.leukres.2023.107076. Epub 2023 Apr 14. Leuk Res. 2023. PMID: 37075557
Clonal hematopoiesis of indeterminate significance (CHIP), is age-related and defined by the presence of somatic point mutations in cancer related genes, in the absence of cytopenias or a diagnosis of hematologic neoplasm, with a variant allele fraction 2 %. Remarka …
Clonal hematopoiesis of indeterminate significance (CHIP), is age-related and defined by the presence of somatic point mutations in cancer r …
Antibody-Based and Cell Therapies for Advanced Mastocytosis: Established and Novel Concepts.
Valent P, Akin C, Arock M, Gleixner KV, Greinix H, Hermine O, Horny HP, Ivanov D, Orfao A, Rabitsch W, Reiter A, Schulenburg A, Sotlar K, Sperr WR, Ustun C. Valent P, et al. Int J Mol Sci. 2023 Oct 12;24(20):15125. doi: 10.3390/ijms242015125. Int J Mol Sci. 2023. PMID: 37894806 Free PMC article. Review.
Advanced SM can be categorized into aggressive SM (ASM), MC leukemia (MCL), and SM with an associated hematologic neoplasm (SM-AHN). In a vast majority of all patients, neoplastic cells display a KIT mutation, mostly D816V and rarely other KIT variants. ...
Advanced SM can be categorized into aggressive SM (ASM), MC leukemia (MCL), and SM with an associated hematologic neoplasm (SM …
ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.
Sullivan MJ, Palmer EL, Botero JP. Sullivan MJ, et al. Curr Hematol Malig Rep. 2022 Oct;17(5):105-112. doi: 10.1007/s11899-022-00666-4. Epub 2022 Jun 25. Curr Hematol Malig Rep. 2022. PMID: 35751752 Review.
RECENT FINDINGS: ANKRD26-related thrombocytopenia (ANKRD26-RT) is a non-syndromic autosomal dominant thrombocytopenia with predisposition to hematologic neoplasm. The clinical presentation is variable with moderate thrombocytopenia with normal platelet size and abse …
RECENT FINDINGS: ANKRD26-related thrombocytopenia (ANKRD26-RT) is a non-syndromic autosomal dominant thrombocytopenia with predisposition to …
Clinical Implications of Clonal Hematopoiesis.
Steensma DP. Steensma DP. Mayo Clin Proc. 2018 Aug;93(8):1122-1130. doi: 10.1016/j.mayocp.2018.04.002. Epub 2018 Jul 4. Mayo Clin Proc. 2018. PMID: 30078412 Review.
When aging-associated CH results from acquisition of a somatic mutation in a driver gene associated with leukemia, and this mutation is present at a variant allele frequency of at least 0.02 (2%) yet the patient does not meet World Health Organization diagnostic criteria for a …
When aging-associated CH results from acquisition of a somatic mutation in a driver gene associated with leukemia, and this mutation is pres …
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson BL, Gupta A, Tyekucheva S, Mashima K, Petráčková A, Wang Z, Wojciechowska N, Shaughnessy CJ, Baker PO, Fernandes SM, Shupe S, Machado JH, Fardoun R, Kim AS, Brown JR. Lampson BL, et al. J Clin Oncol. 2023 Feb 10;41(5):1116-1128. doi: 10.1200/JCO.22.00269. Epub 2022 Oct 31. J Clin Oncol. 2023. PMID: 36315919 Free PMC article.
RESULTS: Rare germline ATM variants are present in 24% of patients with CLL, significantly greater than that in patients with other lymphoid malignancies (16% prevalence), myeloid disease (15%), or no hematologic neoplasm (14%). Patients with CLL with germline ATM v …
RESULTS: Rare germline ATM variants are present in 24% of patients with CLL, significantly greater than that in patients with other lymphoid …
Update on diagnostic approaches and therapeutic strategies in systemic mastocytosis.
Radia DH, Moonim MT. Radia DH, et al. Best Pract Res Clin Haematol. 2022 Jun;35(2):101380. doi: 10.1016/j.beha.2022.101380. Epub 2022 Sep 14. Best Pract Res Clin Haematol. 2022. PMID: 36333068 Review.
This may be due to increases in mast cell burden (leukemic, associated with tumour masses) or more commonly due to the presence of an additional hematologic neoplasm (SM-AHN). These patients with advanced systemic mastocytosis have poor outcome; however, recent adva …
This may be due to increases in mast cell burden (leukemic, associated with tumour masses) or more commonly due to the presence of an additi …
Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches.
Valent P, Akin C, Gleixner KV, Sperr WR, Reiter A, Arock M, Triggiani M. Valent P, et al. Int J Mol Sci. 2019 Jun 18;20(12):2976. doi: 10.3390/ijms20122976. Int J Mol Sci. 2019. PMID: 31216696 Free PMC article. Review.
In a majority of these patients, multiple somatic mutations and/or an associated hematologic neoplasm, such as a myeloid leukemia, may be detected. Independent of the category of mastocytosis and the serum tryptase level, patients may suffer from mediator-related sy …
In a majority of these patients, multiple somatic mutations and/or an associated hematologic neoplasm, such as a myeloid leuke …
Response Criteria in Advanced Systemic Mastocytosis: Evolution in the Era of KIT Inhibitors.
Shomali W, Gotlib J. Shomali W, et al. Int J Mol Sci. 2021 Mar 15;22(6):2983. doi: 10.3390/ijms22062983. Int J Mol Sci. 2021. PMID: 33804174 Free PMC article. Review.
Systemic mastocytosis (SM) is a rare clonal hematologic neoplasm, driven, in almost all cases, by the activating KIT D816V mutation that leads to the growth and accumulation of neoplastic mast cells. ...Irrespective of the response criteria, an ever-present challeng …
Systemic mastocytosis (SM) is a rare clonal hematologic neoplasm, driven, in almost all cases, by the activating KIT D816V mut …
68 results