TY - JOUR
T1 - 9q34 Rearrangements in BCR/ABL fusion-negative acute lymphoblastic leukemia
AU - Dave, Bhavana J.
AU - Wiggins, Michele
AU - Higgins, Christine M.
AU - Pickering, Diane L.
AU - Perry, Deborah
AU - Aoun, Patricia
AU - Abromowich, Minnie
AU - DeVetten, Marcel
AU - Sanger, Warren G.
N1 - Funding Information:
The authors would like to express their appreciation to The Children's Cancer Chairman's Program, and the internal Cytogenetics Research and Development Fund, which partially supported this study.
PY - 2005/10/1
Y1 - 2005/10/1
N2 - The t(9;22)(q11.2;q34) translocation is found in a subset of acute lymphoblastic leukemia (ALL). The presence of this translocation involving the fusion of BCR/ABL genes represents a poor prognostic group. Because of the importance in detecting t(9;22) in ALL patients and because occasionally a cytogenetically cryptic BCR/ABL fusion is detected with fluorescence in situ hybridization (FISH), our laboratory routinely performs BCR/ABL FISH tests on all newly diagnosed ALL patients. In the past year, 25 consecutive, newly diagnosed, untreated ALL cases were analyzed. We report the cytogenetics and FISH findings of three cases containing a rearranged 9q34 region with an intact BCR (22q11.2) region and an absence of the BCR/ABL fusion. A split ABL signal representing a translocation of the 9q34 region with chromosome segments other than 22q11.2 (BCR) was observed in 3 cases. Two of these patients were 3 years old; one was 21 at the time of diagnosis. A split ABL FISH signal without the involvement of BCR does not represent a t(9;22) translocation, and prognostic implications of this apparent subgroup of ALL cases have not been determined. Cytogenetic, pathologic, and clinical aspects of these three cases are presented.
AB - The t(9;22)(q11.2;q34) translocation is found in a subset of acute lymphoblastic leukemia (ALL). The presence of this translocation involving the fusion of BCR/ABL genes represents a poor prognostic group. Because of the importance in detecting t(9;22) in ALL patients and because occasionally a cytogenetically cryptic BCR/ABL fusion is detected with fluorescence in situ hybridization (FISH), our laboratory routinely performs BCR/ABL FISH tests on all newly diagnosed ALL patients. In the past year, 25 consecutive, newly diagnosed, untreated ALL cases were analyzed. We report the cytogenetics and FISH findings of three cases containing a rearranged 9q34 region with an intact BCR (22q11.2) region and an absence of the BCR/ABL fusion. A split ABL signal representing a translocation of the 9q34 region with chromosome segments other than 22q11.2 (BCR) was observed in 3 cases. Two of these patients were 3 years old; one was 21 at the time of diagnosis. A split ABL FISH signal without the involvement of BCR does not represent a t(9;22) translocation, and prognostic implications of this apparent subgroup of ALL cases have not been determined. Cytogenetic, pathologic, and clinical aspects of these three cases are presented.
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U2 - 10.1016/j.cancergencyto.2005.03.005
DO - 10.1016/j.cancergencyto.2005.03.005
M3 - Article
C2 - 16157197
AN - SCOPUS:24644471889
SN - 0165-4608
VL - 162
SP - 30
EP - 37
JO - Cancer genetics and cytogenetics
JF - Cancer genetics and cytogenetics
IS - 1
ER -