TY - JOUR
T1 - A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism
AU - Yamamoto, Katsuya
AU - Okamura, Atsuo
AU - Kawano, Hiroki
AU - Katayama, Yoshio
AU - Shimoyama, Manabu
AU - Matsui, Toshimitsu
N1 - Funding Information:
This work was supported in part by grants-in-aid for scientific research from the Ministry of Health, Welfare and Labor and from the Ministry of Education, Culture, Sports, Science and Technology of Japan (No. 17590997).
PY - 2007/7/15
Y1 - 2007/7/15
N2 - Constitutional trisomy 8 mosaicism (CT8M) has been considered to be the first mutation in multistep carcinogenesis. We describe the case of a 38-year-old woman with a normal phenotype who developed to acute monocytic leukemia with a novel t(8;18)(q13;q21). Chromosome analysis and spectral karyotyping showed 47,XX,+8,t(8;18)(q13;q21)[20]. Fluorescence in situ hybridization (FISH) demonstrated that the breakpoint at 18q21 was centromeric to the MALT1 and BCL2 genes. FISH also revealed that trisomy 8 was detected in buccal mucosa cells, indicating that trisomy 8 was a constitutional abnormality. These results suggest that t(8;18)(q13;q21) had a crucial role in the development of leukemia as the second mutation following CT8M.
AB - Constitutional trisomy 8 mosaicism (CT8M) has been considered to be the first mutation in multistep carcinogenesis. We describe the case of a 38-year-old woman with a normal phenotype who developed to acute monocytic leukemia with a novel t(8;18)(q13;q21). Chromosome analysis and spectral karyotyping showed 47,XX,+8,t(8;18)(q13;q21)[20]. Fluorescence in situ hybridization (FISH) demonstrated that the breakpoint at 18q21 was centromeric to the MALT1 and BCL2 genes. FISH also revealed that trisomy 8 was detected in buccal mucosa cells, indicating that trisomy 8 was a constitutional abnormality. These results suggest that t(8;18)(q13;q21) had a crucial role in the development of leukemia as the second mutation following CT8M.
UR - http://www.scopus.com/inward/record.url?scp=34447560905&partnerID=8YFLogxK
U2 - 10.1016/j.cancergencyto.2007.04.008
DO - 10.1016/j.cancergencyto.2007.04.008
M3 - Article
C2 - 17656258
AN - SCOPUS:34447560905
SN - 0165-4608
VL - 176
SP - 144
EP - 149
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
IS - 2
ER -