The mutational frequency of BRAF and KRAS in low grade serous testicular neoplasms – a case series

Abstract

Aims

Low grade serous neoplasms of the testis are rare neoplasms that demonstrate striking morphological similarities with the better-understood ovarian neoplasms. The cell of origin, relation to serous ovarian tumour and the pathogenesis of these neoplasms are not fully established.

Methods and results

As low grade serous ovarian neoplasms are known to harbour mutations in the MAP-kinase pathway, we investigated the involvement of BRAF and KRAS mutations in low grade testicular serous tumour by way of mutational analysis of 7 cases. Mutational analysis was performed by melting curve analysis followed by bidirectional sequencing. Our findings showed BRAF and/or KRAS mutation in 3 of the 7 cases, similar to the proportions reported in low grade ovarian serous neoplasms. Out of these three cases, one showed co-mutation of BRAF and KRAS.

Conclusion

This supports the role of aberrant signalling of the MAP-kinase pathway in the pathogenesis of low grade serous testicular neoplasms and provides a genetic link between low grade testicular and ovarian serous tumours.

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