BERKELEY, CA (UroToday.com) - Our study, recently reported in the BJC, demonstrates for the first time that testicular microlithiasis (TM) is significantly more frequent in unaffected male relatives of testicular germ cell tumour (TGCT) cases than in healthy male controls.

It also reveals that TM aggregates in families and there is significant concordance of TM in a variety of relative pairs. These observations generate the hypothesis that TM is an alternative manifestation of TGCT susceptibility alleles.

The clinical management of TM remains unclear with many previous studies documenting TM recommending some degree of follow-up. A recent survey of urologists based in the UK and Ireland indicated that 70% perform regular follow-up testicular ultrasounds on their patients diagnosed with incidental TM¹. Our data would suggest that between 6 and 18% of all men, depending whether all TM or only classical TM (>5 microliths) are included, would require follow-up with regular testicular ultrasound if this policy were to be widely adopted. Interestingly in this study, 38% of the consultants who perform follow-up for TM did not feel that it would affect overall patient survival. A more targeted follow-up strategy may be more appropriate.

Studies have demonstrated that the risk of tumour in patients with TM is increased if there are additional TGCT risk factors also present, such as past history of TGCT² or infertility³. In patients with a history of infertility, bilateral TM has been associated with the presence of pre-invasive carcinoma in situ (CIS), a lesion that is believed often to progress to an invasive cancer⁵. Twenty percent (6/30) of men with bilateral TM had CIS on biopsy, significantly higher than for infertile patients with unilateral TM (0/23) or no microlithiasis (1/210)³. These findings suggest that bilateral TM is strongly associated with TGCT and that in the presence of other risk factors such as infertility a malignancy should be considered. It may therefore be warranted to offer a small group of high-risk individuals a biopsy to exclude CIS/TGCT following screening ultrasound.

The increased frequency of TM in relatives of TGCT cases and the inherited component to TM demonstrated in this study suggests that TM associated with family history of TGCT might indicate an additional tumour risk factor warranting surveillance.

Our observation of aggregation of TM in families may have implications for mapping and identification of TGCT genes but may also have clinical implications. Guidelines for the follow-up of TM would be helpful. Before a coherent surveillance policy can be recommended additional larger longitudinal studies are required to evaluate the magnitude of risk and to investigate the role of ultrasound and/or biopsy in different groups of patients. Such longitudinal studies are underway in our centre.

References
1. Ravichandran, S., et al., Surveillance of testicular microlithiasis? Results of an UK based national questionnaire survey. BMC Urol, 2006. 6: p. 8.
2. Bach, A.M., et al., Is there an increased incidence of contralateral testicular cancer in patients with intratesticular microlithiasis? AJR Am J Roentgenol, 2003. 180(2): p. 497-500.
3. de Gouveia Brazao, C.A., et al., Bilateral testicular microlithiasis predicts the presence of the precursor of testicular germ cell tumors in subfertile men. J Urol, 2004. 171(1): p. 158-60.
4. Skakkebaek, N.E., Possible carcinoma-in-situ of the testis. Lancet, 1972. 2(7776): p. 516-7.

Written by
Fiona McDonald, Jerome Coffey, MD, Robert A. Huddart, MD, and Elizabeth A. Rapley, MD, as part of Beyond the Abstract on UroToday.com. This initiative offers a method of publishing for the professional urology community. Authors are given an opportunity to expand on the circumstances, limitations etc... of their research by referencing the published abstract.

Testicular Microlithiasis as a Familial Risk Factor for Testicular Germ Cell Tumour - Abstract

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