Automated four-color interphase fluorescence in situ hybridization approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid acute lymphoblastic leukemia

Abstract Translocation t(5; 12)(q33; p13), resulting in an ETV6/PDGFRB gene fusion, is a recurrent chromosomal abnormality associated with chronic myelomonocytic leukemia (CMML). An analogous translocation was also found in four cell lines with features of pre-B acute lymphoblastic leukemia (ALL). Using fluorescence in situ hybridization (FISH) we show here that in three of these cell lines identical complex rearrangements occurred. However, the regions involved on 5q and 12p are different from the breakpoints in CMML, and the translocation is accompanied by seemingly identical cryptic deletions of both 5q and 12p chromosome sequences in all analyzed pre-B ALL cell lines. The similar cytogenetic, FISH, and immunophenotyping findings in the three cell lines suggest that the t(5; 12)(q31q33; p12) defines a new entity of pre-B ALL.

Download Full-text

A fluorescence in situ hybridization study of TEL-AML1 fusion gene in B-cell acute lymphoblastic leukemia (1984–2001)

Cancer Genetics and Cytogenetics ◽

10.1016/s0165-4608(02)00932-9 ◽

2003 ◽

Vol 144 (2) ◽

pp. 143-147 ◽

Cited By ~ 24

Author(s):

Nathalie Douet-Guilbert ◽

Frédéric Morel ◽

Marie-Josée Le Bris ◽

Angèle Herry ◽

Geneviève Le Calvez ◽

...

Keyword(s):

In Situ Hybridization ◽

Acute Lymphoblastic Leukemia ◽

B Cell ◽

Fluorescence In Situ Hybridization ◽

Fusion Gene ◽

Lymphoblastic Leukemia ◽

Hybridization Study ◽

Cell Acute Lymphoblastic Leukemia

Download Full-text

Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia Is Separated into Two Subgroups Associated with Survival by BCR-ABL Fluorescence in situ Hybridization of Segmented Cell Nuclei: Report from a Single Institution

Acta Haematologica ◽

10.1159/000445972 ◽

2016 ◽

Vol 136 (3) ◽

pp. 157-166 ◽

Cited By ~ 6

Author(s):

Yoshimasa Kamoda ◽

Kiyotaka Izumi ◽

Futoshi Iioka ◽

Takashi Akasaka ◽

Fumihiko Nakamura ◽

...

Keyword(s):

In Situ Hybridization ◽

Acute Lymphoblastic Leukemia ◽

Fluorescence In Situ Hybridization ◽

Lymphoblastic Leukemia ◽

Philadelphia Chromosome ◽

Cell Nuclei ◽

Fish Group ◽

Segmented Cell ◽

Philadelphia Chromosome Positive

Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL) may include the lymphoid blast crisis of chronic myeloid leukemia (CML-BC). We applied fluorescence in situ hybridization (FISH) of the BCR-ABL fusion gene to peripheral blood and/or bone marrow smears to determine whether the fusion was restricted to mononuclear cell nuclei or if segmented cell nuclei representing mature neutrophils also carried the fusion (Seg-FISH). Among 20 patients with Ph+ ALL without a prior diagnosis of CML, 9 were Seg-FISH+ and 11 were Seg-FISH-. Seg-FISH+ cases were characterized by a higher rate of p210-type BCR-ABL transcripts, higher white cell and blast counts, and a higher rate of myeloid and T-lymphoid antigen expression than Seg-FISH- cases, in addition to ‘major route' cytogenetic abnormalities associated with CML-BC. Eighteen patients were treated with tyrosine kinase inhibitors (TKIs) either alone or in combination with multiagent chemotherapy, and 7 underwent allogeneic hematopoietic stem cell transplantation. Progression-free and overall survivals were greater in the Seg-FISH+ group than in the Seg-FISH- group. These results suggest that the Seg-FISH+ group represents lymphoid CML-BC that occurs de novo, while the Seg-FISH- represents Ph+ ALL in the strict sense, and the two groups are associated with survival when treated with TKIs or TKI-combined therapy.

Download Full-text