MDSの染色体，遺伝子検査

Karyotyping and genetic testing in MDS

MDSでの染色体異常は染色体の全体もしくは部分の増加や欠失が多くみられ，相互転座は稀である．MDSの診断，病型分類，予後分類に染色体検査は必須である．染色体異常に対応する蛍光標識プローブがあればFISH法で治療効果の判定を行うことができる．近年，MDSにおける多数の遺伝子異常が新たに見いだされている．融合遺伝子形成は稀で，主に遺伝子の点突然変異であり，現在の日常診療では遺伝子検査はほとんど用いられておらず，今後の開発が望まれる．

Chromosomal abnormalities in MDS are mainly whole or partial trisomy or monosomy.　The reciprocal translocations are rare.　Karyotyping is indispensable for the diagnosis, subtyping, and prognostic prediction for MDS patients.　If the corresponding fluorescent probes are available, the FISH method is used in evaluation of the effects of the treatment.　Recently, many genetic abnormalities have been found in MDS cases.　The genetic abnormalities are mainly point mutations.　The formation of fusion genes is rare.　Genetic testing is seldom used in daily examinations.　The development of useful testing methods is desired.