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Gain of 9p in the pathogenesis of polycythemia vera
Author(s) -
Chen Zhong,
Notohamiprodjo Mathilda,
Guan XinYuan,
Paietta Elisabeth,
Blackwell Sheryn,
Stout Karen,
Turner Angie,
Richkind Kathy,
Trent Jeffrey M.,
Lamb Allen,
Sandberg Avery A.
Publication year - 1998
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199808)22:4<321::aid-gcc8>3.0.co;2-x
Subject(s) - polycythemia vera , pathogenesis , medicine , immunology
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(1p) 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. Genes Chromosomes Cancer 22:321–324, 1998. © 1998 Wiley‐Liss, Inc.