Acute myeloid leukemia presenting in a mother and daughter pair with the identical acquired karyotypic abnormality consisting of inversion 3q21q26 and monosomy 7: a review of possible mechanisms

Cancer Genetics - Tập 205 - Trang 599-602 - 2012
Alastair Lawrie1, David A.J. Stevenson2, Tamasin N. Doig3, Mark A. Vickers1, Dominic J. Culligan4
1Division of Applied Medicine, University of Aberdeen, Aberdeen, United Kingdom
2Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, United Kingdom
3Department of Pathology, Aberdeen Royal Infirmary, Aberdeen, United Kingdom
4Department of Haematology, Aberdeen Royal Infirmary, Aberdeen, United Kingdom

Tài liệu tham khảo

Goldgar, 1994, Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands, J Natl Cancer Inst, 86, 1600, 10.1093/jnci/86.21.1600 Gunz, 1975, Familial leukaemia: a study of 909 families, Scand J Haematol, 15, 117, 10.1111/j.1600-0609.1975.tb01063.x Bödör, 2012, Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival, Haematologica, 97, 890, 10.3324/haematol.2011.054361 Bitter, 1985, Rearrangements of chromosome 3 involving bands 3q21 and 3q26 are associated with normal or elevated platelet counts in acute nonlymphocytic leukemia, Blood, 66, 1362, 10.1182/blood.V66.6.1362.1362 2008 Suzukawa, 1994, Identification of a breakpoint cluster region 3′ of the ribophorin I gene at 3q21 associated with the transcriptional activation of the EVI1 gene in acute myelogenous leukemias with inv(3)(q21q26), Blood, 84, 2681, 10.1182/blood.V84.8.2681.2681 Buonamici, 2004, EVI1 induces myelodysplastic syndrome in mice, J Clin Invest, 114, 713, 10.1172/JCI21716 Stein, 2010, Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease, Nat Med, 16, 198, 10.1038/nm.2088 Grimwade, 1998, The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children’s Leukaemia Working Parties, Blood, 92, 2322, 10.1182/blood.V92.7.2322 Slater, 1992, Acute myelogenous leukemia (AML) and diabetes insipidus (DI): further association with monosomy 7, Hematol Oncol, 10, 221, 10.1002/hon.2900100313 La Starza, 1994, 3q aberration and monosomy 7 in ANLL presenting with high platelet count and diabetes insipidus, Haematologica, 79, 356 Harb, 2009, Acute myeloid leukemia and diabetes insipidus with monosomy 7, Cancer Genet Cytogenet, 190, 97, 10.1016/j.cancergencyto.2009.01.006 Müller, 2002, Myelodysplastic syndrome in transformation to acute myeloid leukemia presenting with diabetes insipidus: due to pituitary infiltration association with abnormalities of chromosomes 3 and 7, Eur J Haematol, 69, 115, 10.1034/j.1600-0609.2002.02763.x Piccin, 2007, Erythroleukaemia, diabetes insipidus and hypophyseal damage: two case reports, Leuk Res, 31, 1135, 10.1016/j.leukres.2006.11.008 Nussey, 1986, Human platelet arginine vasopressin, Clin Endocrinol (Oxf), 24, 427, 10.1111/j.1365-2265.1986.tb01648.x Curley, 2010, Acute myeloid leukemia, the 3q21q26 syndrome and diabetes insipidus: a case presentation, Asia Pac J Clin Oncol, 6, 77, 10.1111/j.1743-7563.2010.01285.x Michaud, 2002, In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis, Blood, 99, 1364, 10.1182/blood.V99.4.1364 Dowton, 1985, Studies of a familial platelet disorder, Blood, 65, 557, 10.1182/blood.V65.3.557.557 Ho, 1996, Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2, Blood, 87, 5218, 10.1182/blood.V87.12.5218.bloodjournal87125218 Song, 1999, Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia, Nat Genet, 23, 166, 10.1038/13793 Ganly, 2004, Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia, Leuk Lymphoma, 45, 1, 10.1080/1042819031000139611 Hahn, 2011, Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia, Nat Genet, 43, 1012, 10.1038/ng.913 Preston, 1994, Cancer incidence in atomic bomb survivors. Part III. Leukemia, lymphoma and multiple myeloma, 1950-1987, Radiat Res, 137, S68, 10.2307/3578893 Prisyazhiuk, 1991, Cancer in the Ukraine, post-Chernobyl, Lancet, 338, 1334, 10.1016/0140-6736(91)92632-C Stsjazhko, 1995, Childhood thyroid cancer since accident at Chernobyl, BMJ, 310, 801, 10.1136/bmj.310.6982.801 Moysich, 2002, Chernobyl-related ionising radiation exposure and cancer risk: an epidemiological review, Lancet Oncol, 3, 269, 10.1016/S1470-2045(02)00727-1 Parkin, 1996, Childhood leukaemia in Europe after Chernobyl: 5 year follow-up, Br J Cancer, 73, 1006, 10.1038/bjc.1996.197 Sali, 1996, Cancer consequences of the Chernobyl accident in Europe outside the former USSR: a review, Int J Cancer, 67, 343, 10.1002/(SICI)1097-0215(19960729)67:3<343::AID-IJC7>3.0.CO;2-R Cambray, 1987, Observations on radioactivity from the Chernobyl accident, Nuclear Energy, 26, 77