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KIT exon 17 mutations are predictive of inferior outcome in pediatric acute myeloid leukemia with RUNX1::RUNX1T1.
Pediatr Blood Cancer
February 2024
Department of Pediatric Oncology, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India.
Background: Pediatric core binding factor acute myeloid leukemia (CBF-AML), although considered a favorable risk subtype, exhibits variable outcomes primarily driven by additional genetic abnormalities, such as KIT mutations.
Procedure: In this study, we examined the prognostic impact of KIT mutations in 130 pediatric patients with CBF-AML, treated uniformly at a single center over 4 years (2017-2021). KIT mutations were detected via next-generation sequencing using a myeloid panel comprising 52 genes for most patients.
Low IL7R Expression at Diagnosis Predicted Relapse in Adult Acute Myeloid Leukemia Patients With t(8;21).
Front Immunol
July 2022
Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing, China.
Article Synopsis
- Acute myeloid leukemia (AML) patients with the genetic marker t(8;21) show varying levels of interleukin 7 receptor (IL7R) expression, which can be classified into low-expressing (IL7R-L) and high-expressing (IL7R-H) groups.
- Patients in the IL7R-L group have a significantly lower relapse-free survival (RFS) rate and a higher association with KIT mutations compared to IL7R-H patients.
- A decrease in IL7R expression correlates with reduced activation and proliferation of T cells, indicating that low IL7R levels at diagnosis may serve as a prognostic factor for relapse risk in this specific AML subgroup.
[The impact of KIT and other concomitant gene mutations on the prognoses of patients with core-binding factor acute myeloid leukemia].
Zhonghua Yi Xue Za Zhi
January 2020
Beijing Lu Daopei Institute of Hematology, Beijing 100176, China.
To study the impact of KIT and other concomitant gene mutations on the prognoses of patients with core-binding factor acute myeloid leukemia (CBF-AML). A total of 104 newly diagnosed patients with CBF-AML in Hebei Yanda Lu Daopei Hospital from January 2014 to February 2018 were analyzed, and high-throughput gene sequencing for the detection of mutations among 58 genes was executed. Also, the clinical features of KIT mutation-positive CBF-AML (KIT+CBF-AML) patients and the effects of other concomitant gene mutations on the prognoses of patients were also analyzed.
View Article and Find Full Text PDFc-KIT Analysis and Targeted Molecular Sequencing of Mesonephric Carcinomas of the Female Genital Tract.
Am J Surg Pathol
April 2020
Department of Anatomical Pathology, Vancouver General Hospital.
Mesonephric carcinoma is a rare malignancy, thought to derive from Wolffian remnants. To date, no targeted molecular therapeutic options have been identified. On the basis of limited case reports, c-KIT immunohistochemical expression has been reported in female adnexal tumors of Wolffian origin, and targeted therapy with Imatinib has been attempted with mixed success.
View Article and Find Full Text PDFThe upregulation of Pim kinases is essential in coordinating the survival, proliferation, and migration of KIT D816V-mutated neoplastic mast cells.
Leuk Res
August 2019
Cancer Research Institute, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea; Department of Internal Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080, Republic of Korea. Electronic address:
About ˜80% of mast cell neoplasm patients harbor the c-Kit activating mutation D816 V, which is associated with c-Kit inhibitor resistance and poor prognosis. However, the molecular basis for these effects is not fully known. To address this issue, in this study we screened molecules whose expression is altered by KIT D816 V mutation and found that Pim kinases were overexpressed in D816V-mutant neoplastic mast cells.
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