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Hum. Reprod. Advance Access published online on December 14, 2007

Human Reproduction, doi:10.1093/humrep/dem389
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Sperm aneuploidy frequencies analysed before and after chemotherapy in testicular cancer and Hodgkin's lymphoma patients

H.G. Tempest1, E. Ko1, P. Chan2,3, B. Robaire3,4, A. Rademaker5 and R.H. Martin1,6

1 Department of Medical Genetics, University of Calgary, 3330 Hospital Drive NW, Calgary, AB, Canada T2 N 4N1 2 Department of Urology, McGill University Health Centre, Montreal, Canada 3 Department of Obstetrics and Gynaecology, McGill University, Montreal, QC, Canada H3G 1Y6 4 Department of Pharmacology and Therapeutics, McGill University, Montreal, QC, Canada H3G 1Y6 5 Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA

6Correspondence address. Tel: +1-403-220-7520; Fax: +1-403-210-7931; E-mail: rhmartin{at}ucalgary.ca

BACKGROUND: Multicolour fluorescent in situ hybridization was utilized to detect sperm aneuploidy for chromosomes 13, 21, X and Y in testicular cancer and Hodgkin's lymphoma chemotherapy patients.

METHODS: Aneuploidy was assessed before, and 6, 12 and/or 18–24 months after, the initiation of chemotherapy, and compared with age matched controls. 635 396 sperm were scored blindly with 5000 sperm/patient/chromosome/ time point, where sperm was available. (First two phrases have been reversed).

RESULTS: Comparing testicular cancer and Hodgkin's lymphoma patients to each other and with controls, cancer-specific differences were identified. Hodgkin's lymphoma patients, particularly, exhibited significantly increased aneuploidy frequencies for all chromosomes throughout treatment. At 6 months, all cancer patients showed significantly increased frequencies of XY disomy and nullisomy for chromosomes 13 and 21. In general, aneuploidy frequencies declined to pretreatment levels 18 months after treatment initiation, but increased aneuploidy frequencies persisted in some chromosomes for up to 24 months.

CONCLUSIONS: Because of elevated aneuploidy frequencies prior to and up to 24 months from the start of chemotherapy, patients should receive genetic counselling about the potentially increased risk of an aneuploid conceptus from sperm cryopreserved prior to chemotherapy, and for conceptions up to 2 years after the initiation of treatment.

Key words: FISH/chemotherapy/aneuploidy/cancer/sperm chromosomes

Submitted on July 10, 2007; resubmitted on November 7, 2007; accepted on November 14, 2007.


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