Usefulness of the rearrangement of the bcr/abl gene in extramedullary (lymph nodes) blast crisis diagnosed in chronic myeloid leukaemia.
The introduction of molecular biological techniques in the study of chronic myeloid leukaemia (CML) allows us to show the bcr/abl gene rearrangement produced by the translocation between the c-abl proto-oncogene located in chromosome 9 and the bcr region located in chromosome 22, which constitutes the molecular alteration of Philadelphia chromosome in CML. We present the usefulness of the bcr/abl gene rearrangement study in the diagnosis of a blast crisis initially located in lymph nodes of a patient with CML. The DNA analysis allows demonstration that the lymph node neoplastic cells originate from the clone responsible for the CML, while obtaining metaphases from a lymph node for the cytogenetic study gives rise to enormous difficulties and is practically impossible if the problem is studied retrospectively based on frozen or fixed samples.
Servicio de Hematologia y Hemoterapia, Hospital Universitario de San Carlos, Madrid, Spain.
F A
FA
González
A
A
Villegas
M T
MT
Ferro
P
P
Cabello
D
D
Morales
J
J
Perez
R
R
Martinez
D001752:Blast Crisis / Q000235:genetics*; D015139:Blotting, Southern; D002892:Chromosomes, Human, Pair 22 / Q000737:chemistry; D002899:Chromosomes, Human, Pair 9 / Q000737:chemistry; D004273:DNA, Neoplasm / Q000032:analysis; D015321:Gene Rearrangement; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology*; D008198:Lymph Nodes / Q000473:pathology; D000090063:Proto-Oncogene Mas
D004273:DNA, Neoplasm; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas