A unique clone involving multiple structural chromosome rearrangements in a myelodysplastic syndrome case.
In a young female patient presenting with a myelodysplastic syndrome (MDS), a unique clone involving six structural chromosome rearrangements was identified using G-banding and molecular cytogenetic techniques. Fifty GTG-banded metaphases from bone marrow were initially analyzed and all metaphases contained all of the six structural chromosome rearrangements. To further define the GTG-banded karyotype, a series of fluorescence in situ hybridization and primed in situ labeling experiments were performed and the karyotype was then characterized as: 46,XX,r(5)(p13q13),der(20)t(5;20),dup(11)(p11.2p15), r(11)(p15q25),del(13)(q14),idic(22)(p11). The patient quickly progressed to acute nonlymphocytic leukemia three months after the diagnosis and died of a hemorrhage in the brain parenchyma two months later. In this case, the multiple structural chromosome rearrangements conferred an obvious cellular proliferative advantage and indicated a very poor prognosis. Considering that multiple chromosome abnormalities associated with MDS transformation are often polyclonal, this unique clone involving six structural chromosome rearrangements make our case highly unusual.
Yan
Ju
J
Department of Medical Biology, Division of Pathology, Laval University, Québec, PQ, Canada.
Whittom
Renaud
R
Delage
Robert
R
Drouin
Régen
R
D000328:Adult; D000753:Anemia, Refractory / Q000235:genetics* / Q000473:pathology; D001752:Blast Crisis / Q000235:genetics / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics / Q000648:ultrastructure; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure; D002890:Chromosomes, Human, Pair 20 / Q000648:ultrastructure; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure; D002999:Clone Cells / Q000473:pathology*; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics / Q000473:pathology; D011379:Prognosis; D012303:Ring Chromosomes; D014178:Translocation, Genetic