Documentation of Oncofertility Communication in Adolescents and Young Adults with Cancer: A Retrospective Analysis.

Background: Increasing numbers of adolescents and young adults with cancer (AYACs) are surviving long term, highlighting the importance of effective oncofertility communication. We undertook this study to understand documentation of fertility discussions with AYACs, what options are offered, and how this differs for AYACs on treatment compared with those post-treatment. Methods: We reviewed the documentation of fertility discussions with 122 AYACs treated between 2000 and 2020: 72 AYACs on treatment and 50 AYACs at least 3 years post-treatment ("late effects" cohort). Results: Diagnoses were split evenly between hematological and solid tumor diagnoses, and biological sex. Seventy-five percent of patients were diagnosed and treated by the AYAC team and 25% by the pediatric team. Median age at diagnosis was 19 years (range 4-24) for on-treatment patients and 16 years (range 3-25) for late effects patients. Fertility was discussed with 93% of on-treatment patients and 48% of late effects patients. Seventy-nine percent of on-treatment patients and 48% of late effects patients pursued a pre-treatment fertility preservation option. Post-treatment, 84% of late effects patients had a discussion and 57% pursued an option. Only four patients across both cohorts underwent oocyte or ovarian tissue cryopreservation. Those referred to specialist reproductive medicine clinics had more detailed documentation about fertility discussions. Nurse-led late effects clinics had a key role in facilitating post-treatment discussions. Conclusions: It is important to communicate oncofertility options to AYACs repeatedly throughout treatment. Referral to specialist oncofertility services and adequate information for both sexes is important pre-treatment, and can be facilitated post-treatment by a late effects service.

Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.

Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique although current protocols may preferentially amplify the wild-type allele and miss the deletion. Here, we report a female infant with incontinentia pigmenti that also affected her mother and sister, and two spontaneously aborted male siblings. We developed a modified PCR amplification method that provides more robust detection of the exon 4-10 deletion mutation, which was demonstrated in all affected females in this pedigree.