Περίληψη:
We report two cases with chronic myeloproliferative disorder which were
found to carry simple variant Philadelphia (Ph) t(14;22)(q32;q11) in
unstimulated bone marrow mononuclear cells. Both cases were
characterized molecularly by Southern blot, reverse
transcription-polymerase chain reaction (RT-PCR), and direct sequencing
of the RT-PCR products. In the first case (female, aged 65, in blastic
transformation which developed one year after the initial diagnosis of
myelofibrosis), a t(14;22) (q32;q11) was found in association with
several other chromosomal abnormalities [48,XX, +X, +5,del(5)
(q12q32), +8,der(9)t(9;11)(q32;q11),-11]; molecular analysis
demonstrated the presence of a BCR-ABL chimeric gene and mRNA transcript
of the b2-a2 type. In the second case (female, aged 16, with clinical
and hematologic features typical of chronic myelogenous leukemia in
chronic phase), a t(14;22) (q32;q11) was identified as the sole
karyotypic abnormality; again, molecular analysis demonstrated the
presence of a BCR-ABL chimeric gene and mRNA transcript, this time of
the b3-a2 type. Our findings further support the notion that, even when
undetectable by conventional cytogenetics, band 9q34 participates in all
Ph chromosomes and leads to the formation of chimeric BCR-ABL genes. (C)
Elsevier Science Inc., 1996
Συγγραφείς:
Mantzourani, M
Stamatopoulos, K
Abazis, D
Kontopidou, F and
Viniou, N
Pangalis, GA
Pangalos, C
Loukopoulos, D
