کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5527694 1547885 2017 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Research paperGenetic variations of bone marrow mesenchymal stromal cells derived from acute leukemia and myelodysplastic syndrome by targeted deep sequencing
ترجمه فارسی عنوان
تنوع ژنتیکی سلول های استرومای مزانشیمی مغز استخوان که از لوسمی حاد و سندرم میلتید پلاسمی به دست آمده از طریق توالی انتخابی هدفمند
کلمات کلیدی
سلول های استروما مزانشیمی مغز استخوان، توالی عمودی هدفمند، انواع ژنتیکی، بدخیمی های میلوئیدی،
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
چکیده انگلیسی


- Targeted deep sequencing reveals genetic variants in hemopoietic cells and MSCs.
- MSC-specific genetic variants are rare and present at very low allele frequency.
- TET2-S1107P was found at low allelic frequency in a subset of AML patients.

Bone marrow mesenchymal stromal cells (MSCs), which support proliferation and differentiation of hematopoietic stem cells, may play a crucial role in the pathogenesis of myeloid neoplasms. To determine whether MSCs in myeloid neoplasms harbor distinct somatic mutations that may affect their function, we used a targeted gene sequencing panel containing 50 myeloid neoplasm-associated genes with coverage of ≥500. We compared the genetic alterations between MSCs and bone marrow hematopoietic (BM) cells from patients with acute leukemia (n = 5) or myelodysplastic syndrome (MDS, n = 5). Non-synonymous somatic mutations, such as DNMT3A-R882H and FLT3-D835Y, were only detected in BM cells with high allelic frequency. We found several non-synonymous genetic variants overlapping BM cells and MSCs, including TP53 and ASXL1, partially owing to the heterogenous cell fraction of MSC samples and lineage fidelity. We also found MSC-specific genetic variants with very low allelic frequency (7% to 8%), such as NF1-G2114D and NF1-G140. Further studies in large cohorts are needed to clarify the molecular properties of MSCs including age-related genetic alterations by targeted deep sequencing.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Leukemia Research - Volume 62, November 2017, Pages 23-28
نویسندگان
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