| dbo:abstract |
Atypical chronic myeloid leukemia (aCML) is a type of leukemia. It is a heterogeneous disorder belonging to the group of myelodysplastic/myeloproliferative (MDS/MPN) syndromes. In aCML many clinical features (splenomegaly, myeloid predominance in the bone marrow with some dysplastic features but without a differentiation block) and laboratory abnormalities (myeloid proliferation, low leukocyte alkaline phosphatase values) suggest the diagnosis of chronic myelogenous leukemia (CML). However the lack of the pathognomonic Philadelphia chromosome and of the resulting BCR-ABL1 fusion point to a different pathogenetic process. Since no specific recurrent genomic or karyotypic abnormalities have been identified in aCML, the molecular pathogenesis of this disease has remained elusive and the outcome dismal (median survival 37 months) with no improvement over the last 20 years. This sharply contrasts with the outcome for CML, for which the prognosis was dramatically improved by the development of imatinib as a specific inhibitor of the BCR-ABL protein and in particular for CML. In 2012 SETBP1 was identified as a novel oncogene in aCML; specific somatic mutations of this gene were discovered in people with aCML and related diseases. These mutations, which are identical to the ones present in SGS as germline mutations, impair the degradation of SETBP1 and therefore cause increased cellular levels of the protein. (en) 非定型慢性骨髄性白血病(ひていけいまんせいこつずいせいはっけつびょう、英名 Atypical Chronic myelogenous leukemia )とは慢性骨髄性白血病様の血液疾患のこと。慢性骨髄性白血病とは違いBCR-ABL融合遺伝子陰性である。aCMLやatypicalCMLと略称されるが、略称では「非定型」を意味するaやatypicalは小文字、CMLは大文字で表記するのが一般的である。 (ja) |
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dbr:SETBP1 dbr:Chronic_myelogenous_leukemia dbr:Leukemia dbr:Philadelphia_chromosome dbc:Leukemia dbr:Germline_mutation dbr:Splenomegaly dbr:Imatinib |
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非定型慢性骨髄性白血病(ひていけいまんせいこつずいせいはっけつびょう、英名 Atypical Chronic myelogenous leukemia )とは慢性骨髄性白血病様の血液疾患のこと。慢性骨髄性白血病とは違いBCR-ABL融合遺伝子陰性である。aCMLやatypicalCMLと略称されるが、略称では「非定型」を意味するaやatypicalは小文字、CMLは大文字で表記するのが一般的である。 (ja) Atypical chronic myeloid leukemia (aCML) is a type of leukemia. It is a heterogeneous disorder belonging to the group of myelodysplastic/myeloproliferative (MDS/MPN) syndromes. In aCML many clinical features (splenomegaly, myeloid predominance in the bone marrow with some dysplastic features but without a differentiation block) and laboratory abnormalities (myeloid proliferation, low leukocyte alkaline phosphatase values) suggest the diagnosis of chronic myelogenous leukemia (CML). However the lack of the pathognomonic Philadelphia chromosome and of the resulting BCR-ABL1 fusion point to a different pathogenetic process. Since no specific recurrent genomic or karyotypic abnormalities have been identified in aCML, the molecular pathogenesis of this disease has remained elusive and the outco (en) |
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Atypical chronic myeloid leukemia (en) 非定型慢性骨髄性白血病 (ja) |
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