同胞姐妹同患骨髓增殖性肿瘤病例报道及文献复习
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摘要
<正>骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)是一类以一系或多系造血细胞增殖为主要特征的造血干细胞克隆性肿瘤,部分可向骨髓纤维化、骨髓衰竭及急性白血病转化~([1])。主要包括:真性红细胞增多症(polycythemia vera,PV)、原发性血小板增多(essential thrombocythemia,ET)、原发性骨髓纤维化(primary myelofibrosis,PMF),慢性粒细胞白血病
引文
1 吴学琼,齐小宁,李文佳,等.骨髓增生异常/骨髓增殖性肿瘤——不能分类白血病急变1例并文献复习[J].内科急危重症杂志,2015,21(5):390-391.
2 Rumi E,Passamonti F,Della Porta MG,et al.Familial chronic myeloproliferative disorders:clinical phenotype and evidence of disease anticipation [J].J Clin Oncol,2007,25(35):5630-5635.3 Ranjan A,Penninga E,Jelsig AM,et al.Inheritance of the chronic myeloproliferative neoplasms.A systematic review [J].Clin Genet,2013,83(2):99-107.
4 Landgren O,Goldin LR,Kristinsson SY,et al.Increased risks of polycythemia vera,essential thrombocythemia,and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden [J].Blood,2008,112(6):2199-2204.
5 Saliba J,Saint-Martin C,Stefano AD,et al.Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies [J].Nat Genet,2015,47(10):1131-1140.
6 Harutyunyan AS,Giambruno R,Krendl C,et al.Germline RBBP6 mutations in familial myeloproliferative neoplasms [J].Blood,2015,127(3):362-365.
7 Rumi E,Passamonti F,Pietra D,et al.JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders [J].Cancer,2006,107(9):2206-2211.
8 Rumi E,Harutyunyan AS,Pietra D,et al.LNK mutations in familial myeloproliferative neoplasms [J].Blood,2016,128(1):144-145.
9 Lesteven E,Picque M,Conejero TC,et al.Association of a single-nucleotide polymorphism in the SH2B3 gene with JAK2V617F-positive myeloproliferative neoplasms [J].Blood,2014,123(5):794-796.
10 Ballanné-Chantelot C,Chaumarel I,Labopin M,et al.Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders [J].Blood,2006,108(1):346-352.
11 Kralovics R,Stockton DW,Prchal JT.Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease [J].Blood,2003,102(10):3793-3796.
12 Kr?mer A,Reiter A,Kruth J,et al.JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia [J].Lancet Oncol,2007,8(7):658-660.
13 Büsche G,Hussein K,Bock O,et al.Insights into JAK2-V617F mutation in CML [J].Lancet Oncol,2007,8(10):864-866.
2 Rumi E,Passamonti F,Della Porta MG,et al.Familial chronic myeloproliferative disorders:clinical phenotype and evidence of disease anticipation [J].J Clin Oncol,2007,25(35):5630-5635.3 Ranjan A,Penninga E,Jelsig AM,et al.Inheritance of the chronic myeloproliferative neoplasms.A systematic review [J].Clin Genet,2013,83(2):99-107.
4 Landgren O,Goldin LR,Kristinsson SY,et al.Increased risks of polycythemia vera,essential thrombocythemia,and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden [J].Blood,2008,112(6):2199-2204.
5 Saliba J,Saint-Martin C,Stefano AD,et al.Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies [J].Nat Genet,2015,47(10):1131-1140.
6 Harutyunyan AS,Giambruno R,Krendl C,et al.Germline RBBP6 mutations in familial myeloproliferative neoplasms [J].Blood,2015,127(3):362-365.
7 Rumi E,Passamonti F,Pietra D,et al.JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders [J].Cancer,2006,107(9):2206-2211.
8 Rumi E,Harutyunyan AS,Pietra D,et al.LNK mutations in familial myeloproliferative neoplasms [J].Blood,2016,128(1):144-145.
9 Lesteven E,Picque M,Conejero TC,et al.Association of a single-nucleotide polymorphism in the SH2B3 gene with JAK2V617F-positive myeloproliferative neoplasms [J].Blood,2014,123(5):794-796.
10 Ballanné-Chantelot C,Chaumarel I,Labopin M,et al.Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders [J].Blood,2006,108(1):346-352.
11 Kralovics R,Stockton DW,Prchal JT.Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease [J].Blood,2003,102(10):3793-3796.
12 Kr?mer A,Reiter A,Kruth J,et al.JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia [J].Lancet Oncol,2007,8(7):658-660.
13 Büsche G,Hussein K,Bock O,et al.Insights into JAK2-V617F mutation in CML [J].Lancet Oncol,2007,8(10):864-866.