Sabine Bartnitzke

TL;DR: It is hypothesized that estrogen and the mutated MED12 cooperate in activating the Wnt pathway which in turn activates β‐catenin known to cause leiomyoma‐like lesions in a mouse model, and hence the high prevalence of the former mutations among clinically detectable fibroids.

TL;DR: All tumors with 8q12 breakpoints showed a characteristic in vitro cellular morphology which was also observed in a few tumors with an apparently normal karyotype but in none of the tumors with the 12q13-15 breakpoint.

TL;DR: This is the first report on a combined molecular and cytogenetic analysis of a large series of pulmonary chondroid hamartomas indicating that rearrangements of HMGI-C, a member of the high mobility group protein gene family, are the leading molecular events in the genesis of PCH.

TL;DR: 3' rapid amplification of cDNA ends PCR results on cDNA from a primary uterine leiomyoma are reported on, identifying a cDNA sequence that revealed 100% homology to exon 13 of the human mitochondrial aldehyde dehydrogenase gene (ALDH 2), a good candidate underlying the chromosomal rearrangements involving 12q24.

TL;DR: Tyrogenetic and molecular cytogenetic studies on 191 PCHs, including 48 previously published cases, show a rearrangement within or close to HMGIC in all tumors with 12q14–15 abnormalities tested, and in 4 tumors with complex abnormalities without cytogenetically visible alterations of chromosomes 12.