The prognostic significance of mutations and optimal thresholds and time points of measurable residual disease (MRD) monitoring for acute myeloid leukemia (AML) with remain controversial in the setting of hematopoietic stem cell transplantation (HSCT). We retrospectively evaluated 166 high-risk patients who underwent allogeneic (Allo-HSCT, = 112) or autologous HSCT (Auto-HSCT, = 54). D816V mutation, a subtype of exon 17 mutations, was significantly associated with post-transplant relapse and poor survival, while other types of mutations in exons 17 and 8 were not associated with post-transplant relapse. Pre- and post-transplant MRD assessments were useful for predicting post-transplant relapse and poor survival with a higher sensitivity at later time points. Survival analysis for each stratified group by D816V mutation and pre-transplant MRD status demonstrated that Auto-HSCT was superior to Allo-HSCT in MRD-negative patients without D816V mutation, while Allo-HSCT was superior to Auto-HSCT in MRD-negative patients with D816V mutation. Very poor outcomes of pre-transplant MRD-positive patients with D816V mutation suggested that this group should be treated in clinical trials. Risk stratification by both D816V mutation and MRD status will provide a platform for decision-making or risk-adapted therapeutic approaches.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831332 | PMC |
http://dx.doi.org/10.3390/cancers13020336 | DOI Listing |
J Hematop
December 2024
Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, USA.
Mast cell sarcoma (MCS) is an extremely rare and aggressive form of mastocytosis characterized by highly atypical mast cells with local invasion, metastatic potential, and poor prognosis. MCS is predominantly a de novo process without recurrent molecular findings or predisposing lesions including various myeloid neoplasms. However, there have been rare case reports of MCS with preceding or concurrent systemic mastocytosis (SM) or cutaneous mastocytosis (CM), which is suggestive of an uncommon progression from SM/CM to MCS.
View Article and Find Full Text PDFVirchows Arch
November 2024
Institute of Pathology, Medical School Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
The majority of mastocytosis cases are characterized by an activating mutation in the KIT gene in codon 816. The detection of this alteration is of importance for proper diagnostic workup. Therefore, reliable and sensitive methods for the detection of KIT Codon 816 hotspot mutations in various types of patient samples are required.
View Article and Find Full Text PDFFront Allergy
October 2024
Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Systemic mastocytosis (SM) is a rare hematologic condition characterized by the proliferation and accumulation in tissue of clonal mast cells in multiple organ systems. The release of mast cell mediators in the indolent disease type and the predominant mast cell infiltration of tissues in advanced disease contribute to the heterogeneous clinical presentation. The disease driver in >90% of adult cases is an activating mutation, with D816V being the most frequent.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
Department of Clinical and Biological Sciences, University of Turin, Mauriziano Hospital, 10128 Turin, Italy.
Zhonghua Xue Ye Xue Za Zhi
August 2024
The First Affiliated Hospital of Soochow University, Suzhou 215000, China.
To evaluate the efficacy of avatinib plus allogeneic hematopoietic stem cell transplantation (allo-HSCT) for the treatment of recurrent/refractory RUNX1-RUNX1T1 positive acute myeloid leukemia (AML) with KIT mutations. A retrospective study was conducted on the clinical data of seven relapsed/refractory AML patients containing the RUNX1-RUNX1T1 fusion gene and KIT mutation who received afatinib plus allo-HSCT treatment at the First Affiliated Hospital of Soochow University from June 2019 to June 2023. The seven AML patients included one male and six females with a median age of 37 (18-56) years.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!