Association of the Philadelphia chromosome and 5q- in secondary blood disorder.
A patient developed a secondary blood disorder 7 years after radiotherapy for a gastric lymphoma. The initial myelodysplastic syndrome evolved to a myeloproliferative phase with transient polycythemia, progressive thrombocythemia, and hyperleukocytosis. Chromosome analysis performed in the terminal phase showed del(5)(q13q31),t(9;22)(q34;q11), and a complex rearrangement involving chromosomes #2 and #3. A correlation between chromosomal abnormalities and hematologic findings could be established. In this case, we have assumed that the Philadelphia translocation is a late event, due to prior mutagen exposure, and its association with a common secondary abnormality (5q-), followed by a progressively developing myeloproliferative phase. Furthermore, the association of Ph and 5q- in a single clone seems to indicate that the same stem cell is affected by these two abnormalities.
Laboratoire Central d'Hématologie et de Génétique, C.H.U. Purpan-Toulouse, France.
N
N
Dastugue
C
C
Demur
F
F
Pris
R
R
Bugat
M
M
Attal
G
G
Bourrouillou
P
P
Colombies
D000754:Anemia, Refractory, with Excess of Blasts / Q000209:etiology / Q000235:genetics*; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008223:Lymphoma / Q000532:radiotherapy; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000209:etiology / Q000235:genetics*; D010677:Philadelphia Chromosome; D011832:Radiation Injuries / Q000235:genetics; D013274:Stomach Neoplasms / Q000532:radiotherapy
D005819:Genetic Markers