A Novel and Cytogenetically Cryptic t(7;21)(q36.1;q22) Disrupting RUNX1 in Acute Myeloid Leukemia.

Translocations involving the RUNX1 transcription factor gene are frequently identified in leukemia patients, but the partner genes have been characterized in only about half of these cases. We report here a novel RUNX1 partner gene, KMT2C (MLL3), in a patient with de novo acute myeloid leukemia, having a novel and cytogenetically cryptic t(7;21)(q36.1;q22) leading to disruption of RUNX1 and KMT2C.

Unusual location of BCR-ABL1 fusion sequences in a chronic myeloid leukemia patient.

We describe a case of a chronic myeloid leukemia patient displaying the chimeric BCR-ABL1 gene on 12p11. Chromosome analysis revealed complex chromosome aberration involving chromosomes 9, 12, and 22. Fluorescence in situ hybridization revealed an unusual signal pattern revealing the BCR-ABL1 fusion signal on chromosome 12, while no reciprocal ABL1-BCR fusion was detected on der(9) chromosome.

Novel four-way Ph translocation t(9;22;7;1)(q34;q11;q22;p13) in a chronic myeloid leukemia patient receiving tyrosine kinase inhibitor therapy.

The occurrence of a four-way Philadelphia chromosome translocation is a very rare event in myeloid malignancies, and the phenotypic consequences of such rearrangements remain to be investigated. We describe a case of a chronic myeloid leukemia (CML) patient with a complex four-way t(9;22;7,1) translocation who received multiple tyrosine kinase inhibitor therapy. As evaluation of prognostic features in a limited number of patients with four-way Philadelphia rearrangements at present yields controversial results, our case may add further information on the prognostic impact of such abnormalities in CML patients receiving tyrosine kinase inhibitor therapy, and may help delineate a sub-group of patients requiring different therapeutic approaches.

Frequency and type of chromosomal abnormalities in childhood acute lymphoblastic leukemia patients in Kuwait: a six-year retrospective study.

Objective: To characterize the frequency of genetic profiles in pediatric acute lymphoblastic leukemia (ALL) patients in Kuwait.

Subjects And Methods: This review presents the general cytogenetic characteristics of 164 pediatric patients diagnosed as having ALL in a 6-year period. Chromosomal and fluorescence in situ hybridization studies were made on bone marrow aspirates at diagnosis and during different stages of the disease.

Genomic instability and rapid clinical course in adult T-cell lymphoma/leukemia patient.

Adult T-cell leukemia/lymphoma is a distinct clinical entity characterized by a clonal proliferation of malignant T-lymphocytes. The etiologic agent of the disease is a Human T-cell lymphotropic virus type I. It occurs almost exclusively in areas where the virus is endemic; however the disease develops only in the minority of patients who are virus carriers.

Simultaneous occurrence of MLL and RARA rearrangements in a pediatric acute lymphoblastic leukemia patient.

We report a case of concurrent translocations of MLL gene, associated with a highly distinct leukemia subtype and RARA gene, which is pathogenomic in acute promyelocytic leukemia. Conventional cytogenetic revealed a novel complex rearrangement between chromosomes 5, 11, and 17 resulting in a three-way chromosome translocation t(5;11;17)(q31;q23;q21). Fluorescence in situ hybridization analysis demonstrated that the 11q23 breakpoint involved the MLL, and the 17q21 breakpoint involved the RARA gene.

Simultaneous occurrence of t(9;22)(q34;q11.2) and t(16;16)(p13;q22) in a patient with chronic myeloid leukemia in blastic phase.

Coexistence of two specific chromosomal translocations in the same clone is an infrequent phenomenon and has only rarely been reported in hematological malignancies. We report a combination of t(16;16)(p13;q22), the Philadelphia translocation t(9;22)(q34;q11.2), and deletion of the long arm of chromosome 7 in a patient with chronic myeloid leukemia in blast phase.

Trisomy 6 in a CML patient receiving imatinib mesylate therapy.

The emergence of chromosome abnormalities in Philadelphia-negative cells in chronic myelogenous leukemia patients during imatinib therapy have been described by several authors. While these abnormalities are frequently transient, in rare instances they may be presented on repeated occasions suggesting the possibility of the development of a new malignant clone. We describe a patient with Philadelphia chromosome-positive chronic myelogenous leukemia diagnosed in 1998, in whom multiple clonal abnormalities were identified in Ph-negative cells while on imatinib therapy.

Safety of imatinib in chronic myeloid leukemia in blastic crisis presenting as cholestatic jaundice.

Acute leukemia presenting as cholestatic jaundice is rare. It can occur due to granulocytic sarcoma compressing the bile ducts in case of acute myeloid leukemia. Rarely, diffuse infiltration of the liver sinusoids by the leukemic blasts can present as cholestatic jaundice.