Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 9/genetics , Lymphoma, Large B-Cell, Diffuse/complications , Lymphoma, Large B-Cell, Diffuse/genetics , Myelodysplastic Syndromes/complications , Myelodysplastic Syndromes/genetics , Testicular Neoplasms/complications , Testicular Neoplasms/genetics , Aged , Humans , MaleSubject(s)
Chromosomes, Human, Pair 22 , Leukemia, Monocytic, Acute/genetics , Trisomy , Adult , Female , HumansSubject(s)
Blast Crisis/genetics , Chromosomes, Human, Pair 20/genetics , Chromosomes, Human, Pair 21/genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Translocation, Genetic/genetics , Blast Crisis/pathology , Humans , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/pathology , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/therapy , Male , Middle AgedABSTRACT
As a result of the low proliferative index, only 50% of chronic lymphocytic leukemia cases are adequate for cytogenetic analysis. Of these, about half have clonal abnormalities. The application of fluorescence in situ hybridization (FISH) to CLL has substantially enhanced our ability to detect chromosomal aberrations; the incidence of a number of recurring abnormalities has been established, providing new insights into the pathogenesis of this disease with a direct impact on the prognosis.
Subject(s)
In Situ Hybridization, Fluorescence , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Chromosome Aberrations , HumansABSTRACT
Emergence of additional cytogenetic clones in chronic myelocytic leukemia (CML) patients who become Philadelphia chromosome-negative (Ph-) after alpha-interferon therapy (or more recently with imatinib mesylate) have been described. We report here a case of a novel t(6;7)(p21;q23) that developed in a CML patient in complete cytogenetic remission during imatinib therapy. In this case, fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction showed a normal pattern for BCR and ABL genes, suggesting that a different and unrelated clone developed after the disappearance of the Ph chromosome.
Subject(s)
Chromosomes, Human, Pair 6 , Chromosomes, Human, Pair 7 , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Translocation, Genetic , Aged , Antineoplastic Agents/pharmacology , Benzamides , Humans , Imatinib Mesylate , In Situ Hybridization, Fluorescence , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy , Male , Piperazines/pharmacology , Pyrimidines/pharmacology , Remission InductionABSTRACT
We tested a set of commercially available probes to determine the feasibility and accuracy of FISH in the detection of abnormalities in 13 patients with Chronic Lymphocytic Leukemia (CLL) with a particular aggressive clinical disease. We utilized three different probes for the 13q12-14 region, one for the centromeric region of chromosome 12, one for the P53 gene at 17p13.1 and one for 3'-5' IGH at 14q32, covering the entire region of IGH, thus potentially allowing to detect more rearrangements. Conventional cytogenetic study showed a normal karyotype in 8/13 patients. FISH was able to detect chromosomal abnormalities in 10/13 pts (85%): +12 in 4 pts (38%); del 13q in 4 (38%); del 17p in 3 (35%); del of 5'-IGH in 1 (15%). In conclusion FISH confirmed its ability to improve the detection of cytogenetic abnormalities especially in patients with an aggressive disease.
Subject(s)
Chromosome Aberrations , Cytogenetic Analysis , In Situ Hybridization, Fluorescence , Leukemia, Lymphocytic, Chronic, B-Cell , Acute Disease , Chromosomes, Human , Female , Humans , Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis , Male , Predictive Value of Tests , Sensitivity and SpecificityABSTRACT
Recurrent cytogenetic abnormalities are typically found in about one third of B-cell chronic lymphocytic leukemia patients (B-CLL) by standard cytogenetic analysis and their prognostic relevance is well known. We report a case of a B-CLL patient showing both trisomy 12 and a t(14;22)(q32;q11). Trisomy 12 is often associated with aggressive disease and resistance to chemotherapy, however, our patient is in good health and currently untreated after 7 years, suggesting in this case a relatively good prognosis and a questionable role for translocations involving the 14q32 locus.
