KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients.

@article{GarcaMontero2006KITMI,
  title={KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients.},
  author={Andr{\'e}s C Garc{\'i}a-Montero and Mar{\'i}a Jara-Acevedo and Cristina Teodosio and Mar{\'i}a Luz S{\'a}nchez and Rosa N{\'u}{\~n}ez and Ar{\'a}nzazu Prados and Isabel Aldanondo and Laura M Sanchez and Mercedes Dom{\'i}nguez and Luis M. Botana and Francisca S{\'a}nchez-Jim{\'e}nez and Karl Sotlar and Julia Almeida and Lu{\'i}s Escribano and Alberto Orfao},
  journal={Blood},
  year={2006},
  volume={108 7},
  pages={
          2366-72
        }
}
Despite the relevance of the c-kit/stem cell factor (SCF) signaling pathway in mast cell (MC) diseases, the exact frequency of KIT mutations in different compartments of bone marrow (BM) hematopoietic cells of individuals with systemic mastocytosis (SM), and its different diagnostic categories, remains unknown. In this study, we prospectively analyzed the presence of KIT mutations in fluorescence-activated cell-sorting (FACS)- purified populations of BM MCs (n = 113) and other BM cell… Expand
An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation in systemic mastocytosis
TLDR
Results show that aberrant expression of CD25 with a FcɛRIlo, FSClo, SSClo and CD45lo immature phenotype of BMMC, in the absence of coexisting normal MC in the BM, was associated with multilineage involvement by the D816V KIT mutation, regardless of the diagnostic subtype of the disease (for example, indolent vs aggressive SM). Expand
Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis
TLDR
The KIT D816V mutation arises in early haematopoietic stem and progenitor cells and the mutation frequency is approaching 100% in mature mast cells, which express the aberrant marker CD45RA. Expand
KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression.
TLDR
Results support the notion that ISM patients with mutated MSCs may have acquired the KIT mutation in a common pluripotent progenitor cell, prior to differentiation into M SCs and hematopoietic precursor cells, before the X-chromosome inactivation process occurs. Expand
Single-cell analysis reveals the KIT D816V mutation in hematopoietic stem and progenitor cells in systemic mastocytosis
TLDR
It is demonstrated that mast cells originate from an FcεRI+ bone marrow progenitor, and aberrant CD45RA expression on SM mast cells is described for the first time, providing novel insight into hematopoiesis and the occurrence of the D816V mutation in SM. Expand
Current state of biology and diagnosis of clonal mast cell diseases in adults
TLDR
Observations support the fact that, although the current consensus diagnostic criteria for systemic mastocytosis have been a major advance for the diagnosis and classification of the disease, rationale usage of the most sensitive diagnostic techniques available nowadays is needed to improve the diagnosis, refine the classification, and reach objective prognostic stratification of adult mastocyTosis. Expand
Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event
TLDR
Data indicate that SM-AHNMD is a multi-mutated neoplasm, KIT D816V or other mutations are rare in CFU-GM colonies of ISM/SSM patients, which might explain at least in part their better prognosis. Expand
Variable presence of KITD816V in clonal haematological non‐mast cell lineage diseases associated with systemic mastocytosis (SM–AHNMD)
TLDR
It is demonstrated that KIT codon 816 mutations are variably present in AHNMD cells in patients with SM–AHNMD, depending on the subtype of AHN MD. Expand
The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemia.
TLDR
In a patient with SM-AHNMD who underwent allogeneic HSCT, the major source of the detectable AML1/ETO mRNA of the bone marrow after transplantation was neoplastic mast cells with KIT mutation, which were thought to be derived from CD34+ CD117+ immature leukemic cells of the recipient. Expand
Gene expression profile of highly purified bone marrow mast cells in systemic mastocytosis.
TLDR
BMMCs from patients with different clinical subtypes of SM display distinct GEPs, which might reflect new targetable pathways involved in the pathogenesis of the disease. Expand
Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms.
TLDR
Although both patients with ISMs(-) and patients with nc-MCAD presented with idiopathic and allergen-induced anaphylaxis, the former showed a higher frequency of men, cardiovascular symptoms, and insect bite as a trigger, together with greater sBt. Expand
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