Abstract
Between 1979 and 1988, 86 patients with clinical and laboratory findings consistent with essential thrombocythemia (ET) were karyotyped at diagnosis. Four patients showed a Philadelphia chromosome and underwent myeloid blastic crisis 2.5-4.5 years later, strongly suggesting a diagnosis of chronic myeloid leukemia. A partial deletion of 13q was seen in another case evolving to leukemia a few months later. Five cases, with normal karyotypes at diagnosis, developed acute transformation after more than 5 years of chronic phase. Four of them showed unusual clonal karyotype abnormalities involving different chromosomal regions. The numerical abnormalities found were trisomy 22 in one case, and trisomy 8 and 19 in another, while structural changes included partial deletion of 6p, partial deletion of 6q, pericentric inversion of chromosome 12, and partial deletion of 20q. These abnormalities have not been previously reported in ET. This investigation confirms the absence of a specific cytogenetic marker for ET, and the infrequent transformation to acute leukemia, often with chromosomal clonal disorders.
| Original language | English |
|---|---|
| Pages (from-to) | 57-65 |
| Number of pages | 9 |
| Journal | Cancer Genetics and Cytogenetics |
| Volume | 43 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1989 |
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ASJC Scopus subject areas
- Cancer Research
- Genetics
- Molecular Biology
Cite this
Cytogenetic analysis in essential thrombocythemia at diagnosis and at transformation. A 12-year study. / Sessarego, Mario; Defferrari, Raffaella; Dejana, Anna Maria; Rebuttato, Anna Maria; Fugazza, Giuseppina; Salvidio, Emanuele; Ajmar, Franco.
In: Cancer Genetics and Cytogenetics, Vol. 43, No. 1, 1989, p. 57-65.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cytogenetic analysis in essential thrombocythemia at diagnosis and at transformation. A 12-year study
AU - Sessarego, Mario
AU - Defferrari, Raffaella
AU - Dejana, Anna Maria
AU - Rebuttato, Anna Maria
AU - Fugazza, Giuseppina
AU - Salvidio, Emanuele
AU - Ajmar, Franco
PY - 1989
Y1 - 1989
N2 - Between 1979 and 1988, 86 patients with clinical and laboratory findings consistent with essential thrombocythemia (ET) were karyotyped at diagnosis. Four patients showed a Philadelphia chromosome and underwent myeloid blastic crisis 2.5-4.5 years later, strongly suggesting a diagnosis of chronic myeloid leukemia. A partial deletion of 13q was seen in another case evolving to leukemia a few months later. Five cases, with normal karyotypes at diagnosis, developed acute transformation after more than 5 years of chronic phase. Four of them showed unusual clonal karyotype abnormalities involving different chromosomal regions. The numerical abnormalities found were trisomy 22 in one case, and trisomy 8 and 19 in another, while structural changes included partial deletion of 6p, partial deletion of 6q, pericentric inversion of chromosome 12, and partial deletion of 20q. These abnormalities have not been previously reported in ET. This investigation confirms the absence of a specific cytogenetic marker for ET, and the infrequent transformation to acute leukemia, often with chromosomal clonal disorders.
AB - Between 1979 and 1988, 86 patients with clinical and laboratory findings consistent with essential thrombocythemia (ET) were karyotyped at diagnosis. Four patients showed a Philadelphia chromosome and underwent myeloid blastic crisis 2.5-4.5 years later, strongly suggesting a diagnosis of chronic myeloid leukemia. A partial deletion of 13q was seen in another case evolving to leukemia a few months later. Five cases, with normal karyotypes at diagnosis, developed acute transformation after more than 5 years of chronic phase. Four of them showed unusual clonal karyotype abnormalities involving different chromosomal regions. The numerical abnormalities found were trisomy 22 in one case, and trisomy 8 and 19 in another, while structural changes included partial deletion of 6p, partial deletion of 6q, pericentric inversion of chromosome 12, and partial deletion of 20q. These abnormalities have not been previously reported in ET. This investigation confirms the absence of a specific cytogenetic marker for ET, and the infrequent transformation to acute leukemia, often with chromosomal clonal disorders.
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U2 - 10.1016/0165-4608(89)90127-1
DO - 10.1016/0165-4608(89)90127-1
M3 - Article
C2 - 2790773
AN - SCOPUS:0024460062
VL - 43
SP - 57
EP - 65
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
SN - 0165-4608
IS - 1
ER -