1)国立がん研究センターの金井さんのところから・・・・
- 日本の子宮筋腫でも80%にMED12突然変異があるという報告。
- 12例の平滑筋肉腫には2例しか認めない。
- 興味深いのは
「子宮外の平滑筋腫瘍には一切の MED12突然変異を認めない」ということ。
小生は3年前からこのことがが知りたかった。
Histopathology. 2013 Mar;62(4):657-61.
Prevalence of MED12 mutations in uterine and extrauterine smooth muscle tumours
Akiko Matsubara, Shigeki Sekine, Masayuki Yoshida, Akihiko Yoshida, Hirokazu Taniguchi, Ryoji Kushima, Hitoshi Tsuda and Yae Kanai
Aims
To determine the prevalence of MED12 mutations in smooth muscle tumours of different organs.
Methods and results
A total of 142 smooth muscle tumours of the uterus, gastrointestinal tract, retroperitoneum and soft tissue were analysed for MED12 mutations using Sanger sequencing. Among the uterine tumours that were examined, MED12
mutations were identified in 36 of 45 conventional leiomyomas (80%),
two of six cellular leiomyomas (33%), one of four bizarre leiomyomas
(25%), none of four lipoleiomyomas (0%), and two of 12 leiomyosarcomas
(17%). The two MED12-mutated leiomyosarcomas were associated with benign leiomyomatous components that also harboured MED12
mutations identical to those in the respective leiomyosarcomatous
components. None of the extrauterine smooth muscle tumours, including
the leiomyomas, leiomyosarcomas, and angioleiomyomas, had MED12 mutations.
Conclusions
Among uterine smooth muscle tumours, MED12
mutations are frequently present in conventional leiomyomas, but are
significantly less common in histological variants of leiomyoma and
leiomyosarcoma. In contrast to uterine lesions, none of the extrauterine
smooth muscle tumours had MED12 mutations.
2)もうひとつ面白いのが子宮筋腫のin vitroモデルであり、これはドイツからの報告。 MED12変異のある子宮筋腫細胞を培養系に移すと、変異細胞は直ちに消失してしまうというのだという。一パッセージも保たないのだという。面白いはなしだなあ。
Genes Chromosomes Cancer.
2014 Apr;53(4):317-23. Jan 21.
Cell cultures in uterine leiomyomas: Rapid disappearance of cells carrying MED12 mutations.
Nadine Markowski D1, Tadayyon M, Bartnitzke S, Belge G, Maria Helmke B, Bullerdiek J.
Center for Human Genetics, University of Bremen, Leobener Str. ZHG, 28359, Bremen, Germany.
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