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Genetics

SMARCA4 mutated in SCCOHT

Nature Reviews Clinical Oncology volume 11, page 302 (2014)Cite this article

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In the first study, led by William Foulkes, a group of researchers analysed several familial cases of SCCOHT that were characterized by autosomal dominant transmission—a strong indication that mutations in a single gene might cause this disease. The researchers performed whole-exome sequencing on DNA obtained from 24 familial or sporadic cases. As Foulkes highlights, “the most significant finding was that 22 of the 24 cases analysed were due to SMARCA4 mutations”. Furthermore, the researchers suggest that SCCOHT tumours are essentially malignant rhabdoid tumours of the ovary, “they are not always comprised of small cells, are not carcinomas, and only two thirds have hypercalcemia,” concludes Foulkes. It is, therefore, possible that chemotherapeutic regimens used to treat rhaboid tumours might help improve the outcome of this disease.

In a second study, Jeff Trent and colleagues performed whole-genome and whole-exome sequencing on a series of tumours and germline samples derived from 12 cases of SCCOHT. Remarkably, the investigators identified germline or somatic mutations in SMARCA4 in 75% of the cases. Furthermore, they reported a loss of SMARCA4 protein in 82% of the SCCOHT tumours analysed, indicating that the loss of the functional SMARCA4 protein might underline the oncogenic process.

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References

  1. Jelinic, P. et al. Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. Nat. Genet. 10.1038/ng.2922

  2. Ramos, P. et al. Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nat. Genet. 10.1038/ng.2928

  3. Witkowski, L. et al. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat. Genet. 10.1038/ng.2931

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Authors
  1. Alessia Errico
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Errico, A. SMARCA4 mutated in SCCOHT. Nat Rev Clin Oncol 11, 302 (2014). https://doi.org/10.1038/nrclinonc.2014.63

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