Massively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma

作者：Wu Ren Chin; Chao An Shine; Lee Li Yu; Lin Gigin; Chen Shu Jen; Lu Yen Jung; Huang Huei Jean; Yen Chi Feng; Han Chien Min; Lee Yun Shien; Wang Tzu Hao^*; Chao Angel

来源：Oncotarget, 2017, 8(29): 47547-47554.

DOI：10.18632/oncotarget.17708

• benign metastasizing leiomyoma
• massively parallel sequencing
• clonality
• molecular inversion probe array

Benign metastasizing leiomyoma (BML) is a rare disease entity typically presenting as multiple extrauterine leiomyomas associated with a uterine leiomyoma. It has been hypothesized that the extrauterine leiomyomata represent distant metastasis of the uterine leiomyoma. To date, the only molecular evidence supporting this hypothesis was derived from clonality analyses based on X-chromosome inactivation assays. Here, we sought to address this issue by examining paired specimens of synchronous pulmonary and uterine leiomyomata from three patients using targeted massively parallel sequencing and molecular inversion probe array analysis for detecting somatic mutations and copy number aberrations. We detected identical non-hot-spot somatic mutations and similar patterns of copy number aberrations (CNAs) in paired pulmonary and uterine leiomyomata from two patients, indicating the clonal relationship between pulmonary and uterine leiomyomata. In addition to loss of chromosome 22q found in the literature, we identified additional recurrent CNAs including losses of chromosome 3q and 11q. In conclusion, our findings of the clonal relationship between synchronous pulmonary and uterine leiomyomas support the hypothesis that BML represents a condition wherein a uterine leiomyoma disseminates to distant extrauterine locations.

• 出版日期2017-7-18
• 单位长春大学