TY - JOUR
T1 - Gain of 9p in the pathogenesis of polycythemia vera
AU - Chen, Zhong
AU - Notohamiprodjo, Mathilda
AU - Guan, Xin Yuan
AU - Paietta, Elisabeth
AU - Blackwell, Sheryn
AU - Stout, Karen
AU - Turner, Angle
AU - Richkind, Kathy
AU - Trent, Jeffrey M.
AU - Lamb, Allen
AU - Sandberg, Avery A.
N1 - Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 1998
Y1 - 1998
N2 - Polycythemia vera (PV) is a clonal stem cell disorder characterized by excessive erythrocyte production, resulting in absolute erythrocytosis. No specific structural chromosomal abnormalities have been reported in PV to date. We have observed two cases of PV with an extra i(9)(p10) as the sole anomaly, and FISH analysis using a 9p-specific chromosome microdissection probe showed that two other PV patients previously identified as having an add(18p) and an add(lp) as the primary changes actually carried a der(18)t(9;18)(p12;p11.2) and a der(1)t(1;9)(p12;p12), respectively. The same FISH assay was employed to evaluate domain signals on interphase cells of 15 more cases of PV with normal karyotypes and five normal controls. Two patients were observed with a significant increase in the percentage of cells with three domain signals. Our results strongly indicate that an additional i(9)(p10) is a new and recurrent primary chromosome anomaly in PV, and, in consideration of trisomy 9 being one of the most common anomalies in PV, amplification of a gene or genes on 9p, but not on 9q, may play a crucial role in the pathogenesis of PV.
AB - Polycythemia vera (PV) is a clonal stem cell disorder characterized by excessive erythrocyte production, resulting in absolute erythrocytosis. No specific structural chromosomal abnormalities have been reported in PV to date. We have observed two cases of PV with an extra i(9)(p10) as the sole anomaly, and FISH analysis using a 9p-specific chromosome microdissection probe showed that two other PV patients previously identified as having an add(18p) and an add(lp) as the primary changes actually carried a der(18)t(9;18)(p12;p11.2) and a der(1)t(1;9)(p12;p12), respectively. The same FISH assay was employed to evaluate domain signals on interphase cells of 15 more cases of PV with normal karyotypes and five normal controls. Two patients were observed with a significant increase in the percentage of cells with three domain signals. Our results strongly indicate that an additional i(9)(p10) is a new and recurrent primary chromosome anomaly in PV, and, in consideration of trisomy 9 being one of the most common anomalies in PV, amplification of a gene or genes on 9p, but not on 9q, may play a crucial role in the pathogenesis of PV.
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U2 - 10.1002/(SICI)1098-2264(199808)22:4<321::AID-GCC8>3.0.CO;2-X
DO - 10.1002/(SICI)1098-2264(199808)22:4<321::AID-GCC8>3.0.CO;2-X
M3 - Article
C2 - 9669670
AN - SCOPUS:0031798991
SN - 1045-2257
VL - 22
SP - 321
EP - 324
JO - Genes Chromosomes and Cancer
JF - Genes Chromosomes and Cancer
IS - 4
ER -