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Histopathology. 2017 Nov;71(5):686-692. doi: 10.1111/his.13261. Epub 2017 Aug 11.

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

Author information

1
Department of Pathology, Royal United Hospital, Bath, UK.
2
Department of Surgical and Molecular Pathology, National Institute of Oncology, Budapest, Hungary.
3
Department of Pathology, Heart of England NHS Foundation Trust, Birmingham, UK.
4
Molecular Haematology Department, Bristol Royal Infirmary, Bristol, UK.
5
Bristol Haematology and Oncology Centre, Bristol, UK.
6
Department of Pathology, Southmead Hospital, Bristol, UK.

Abstract

AIMS:

Low-grade serous neoplasms of the testis are rare neoplasms that show striking morphological similarities with the better-understood ovarian neoplasms. This study is to see if there are similar molecular abnormalities in these two tumours. The cell of origin, relationship with 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 MAPK pathway, we investigated the involvement of BRAF and KRAS mutations in low-grade testicular serous tumour by performing mutational analysis of seven cases. Mutational analysis was performed by melting curve analysis followed by bidirectional sequencing. Our findings showed BRAF and/or KRAS mutations in three of the seven cases, which is similar to the proportions reported in low-grade ovarian serous neoplasms. Of these three cases, one showed co-mutation of BRAF and KRAS.

CONCLUSION:

The findings of this study are in support of a role of aberrant signalling of the MAPK pathway in the pathogenesis of low-grade serous testicular neoplasms, and provide a genetic link between low-grade testicular and ovarian serous tumours.

KEYWORDS:

DNA mutational analysis; MAPK pathway; serous neoplasms; testicular neoplasms

PMID:
28543997
DOI:
10.1111/his.13261
[Indexed for MEDLINE]

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