Fertility preservation and cancer: How many persons are concerned?

International audienceOBJECTIVE:A significant proportion of cancer survivors experience chronic health sequelae, one of them being fertility impairment. However, even if many reports, guidelines and positions papers focus on fertility preservation and its needs, access to fertility preservation is not currently offered to all the patients concerned, and the targeted population is not well counted.STUDY DESIGN:A cross sectional study was conducted using the French cancer cohort, a cohort covering the whole French population and including around 7 million of cancer patients. Women under the age of 40 and men under the age of 60 included in the cancer cohort in 2013 who had, in the first year, cancer surgery, chemotherapy or radiotherapy were considered. Patients treated by surgery alone for cancers in locations distant from the reproductive organs, or being treated for a cancer the past 3 years were excluded. The number of patients concerned by fertility preservation was estimated at a national and regional level, and by cancer types.RESULTS:40,000 patients - 30,000 men under the age of 60 years and 10,000 women under the age of 40 years - were identified. A second estimation concerning women under the age of 35 and men under 50 reduced the number of patients to 17,200-10,400 men and 6800 women. The most frequent locations were malignant neoplasm of lymphoid and hematopoietic tissue, lung cancer, cervix uteri, prostate and colorectal cancer. In 2014, around 5 400 persons had a preservation.CONCLUSION:Around 17,200 cancer patients of reproductive age should be informed about the fertility preservation options available. Medical professionals have to better integrate in their daily practice fertility preservation

Pregnancy outcomes in prenatally diagnosed 47,XXX and 47,XYY syndromes: a 30-year French, retrospective, multicentre study

International audienceOBJECTIVE: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47,XXX and 47,XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47,XXX and 47,XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis (MCPDs) in 1997. METHODS: This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47,XXX and 47,XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. RESULTS: Most diagnoses of the two conditions were fortuitous. The occurrence of 47,XXX was associated with advanced maternal age. The overall TOP rate was higher for 47,XXX (22.9%) than for 47,XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47,XXX and from 25.8% to 6.7% for 47,XYY). CONCLUSION: The TOP rates after prenatal diagnoses of 47,XXX and 47,XYY fell significantly after 1997, following France's implementation of MCPD

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

To date, mutations in two genes, SPATA16 and DPY19L2, have been identified as responsible for a severe teratozoospermia, namely globozoospermia. The two initial descriptions of the DPY19L2 deletion lead to a very different rate of occurrence of this mutation among globospermic patients. In order to better estimate the contribution of DPY19L2 in globozoospermia, we screened a larger cohort including 64 globozoospermic patients. Twenty of the new patients were homozygous for the DPY19L2 deletion, and 7 were compound heterozygous for both this deletion and a point mutation. We also identified four additional mutated patients. The final mutation load in our cohort is 66.7 (36 out of 54). Out of 36 mutated patients, 69.4 are homozygous deleted, 19.4 heterozygous composite and 11.1 showed a homozygous point mutation. The mechanism underlying the deletion is a non-allelic homologous recombination (NAHR) between the flanking low-copy repeats. Here, we characterized a total of nine breakpoints for the DPY19L2 NAHR-driven deletion that clustered in two recombination hotspots, both containing direct repeat elements (AluSq2 in hotspot 1, THE1B in hotspot 2). Globozoospermia can be considered as a new genomic disorder. This study confirms that DPY19L2 is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene. This is a major finding and should contribute to the development of an efficient molecular diagnosis strategy for globozoospermia

Development of an angiogenesis animal model featuring brain arteriovenous malformation histological characteristics

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