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01.12.2018 | Case report | Ausgabe 1/2018 Open Access

BMC Medical Genetics 1/2018

Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene

BMC Medical Genetics > Ausgabe 1/2018
Deniss Sõritsa, Hindrek Teder, Retlav Roosipuu, Hannes Tamm, Triin Laisk-Podar, Pille Soplepmann, Alan Altraja, Andres Salumets, Maire Peters
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Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1186/​s12881-018-0537-5) contains supplementary material, which is available to authorized users.



Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML.

Case presentation

We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay.


We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A > G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases.
Additional file 1: Supplementary methods. DNA extraction and sequencing. (DOCX 21 kb)
Additional file 2: Table S1. Summary of somatic variants identified in pulmonary metastasis of the BML patient by whole exome sequencing. (XLSX 34 kb)
Additional file 3: Figure S1. A non-random X-chromosome inactivation pattern of leiomyoma specimen of the BML patient. HpaII + denotes enzyme-digested DNA and HpaII − means undigested DNA. (PPTX 46 kb)
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