New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.

Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar dysfunction along with immunodeficiency and oculocutaneous telangiectasia. An increased risk of malignancy is also associated with the syndrome and, rarely, may be the presenting feature in small children. We describe a 17-year-old boy with slurred speech, mild motor delays and learning disability diagnosed with atypical A-T in the setting of T-cell acute lymphoblastic leukemia. Suspicion for A-T was raised after review of a peripheral blood karyotype demonstrating rearrangements involving chromosomes 7 and/or 14. The diagnosis was confirmed after molecular testing identified a novel homozygous missense variant in ATM (c.5585T>A; p.Leu1862His) that resulted in protein instability and abolished serine/threonine protein kinase activity. To our knowledge, this is the first report of concurrent A-T and lymphoid malignancy diagnoses in an older child or adult with only mild neurological disease. Our experience suggests that screening for the disorder should be considered in any individual with lymphoid malignancy and neurological findings, especially as radiation and certain chemotherapy protocols are contraindicated in A-T.

Financial Assistance for Fertility Preservation Among Adolescent and Young Adult Cancer Patients: A Utilization Review of the Sharing Hope/LIVESTRONG Fertility Financial Assistance Program.

Purpose: Fertility preservation (FP) is a critical component of adolescent and young adult (AYA) cancer care that remains inadequately delivered. Prohibitive cost due to a lack of insurance coverage remains a barrier. Since 2004 Sharing Hope/LIVESTRONG Fertility has assisted AYA cancer patients through discounted FP rates and access to free medications. Methods: Demographics, cancer diagnoses, and dollars saved by patients who used the Sharing Hope/LIVESTRONG Fertility program from 2004 to 2011 were retrospectively reviewed and reported using descriptive statistics. Utilization of financial services for the most common diagnoses was compared with the rate of diagnosis among AYAs. Results: One thousand one hundred fifty men and 1301 women received assistance between 2004 and 2011. Median age was 24 years (range, 12-67) for men and 30 years (range, 13-49) for women. Breast cancer, Hodgkin lymphoma (HL), and genitourinary cancers were the most common diagnoses among females; testicular cancer and HL were most common among males. Recipients represented 1245 cancer centers across the United States. Average cost savings was $6587 per female and $386 per male. Program utilization/diagnosis ranged from 0.8% to 2.7%. Conclusion: Utilization of financial assistance for FP was low despite literature pointing to the need for such assistance. Costs for FP for women far exceed those for men. State-specific insurance initiatives are beginning to mandate coverage for FP. As insurance coverage expands, further studies are needed to determine the true financial burden to patients, the degree to which lack of resources prevent FP in this population, and the impact that insurance coverage has on the provision of these services.

A Case of Congenital Malignant Spinal Cord Glioma as a Cause of Congenital Ascites in a Neonate.

Congenital ascites is rare, but when it occurs, urinary ascites secondary to posterior urethral valve obstruction is the most common, and tumors are the least. Among the tumors in the pediatric population, the central nervous system tumors are common, but spinal cord tumors are rare. We describe a very rare case of congenital malignant spinal cord glioma presenting as isolated congenital ascites secondary to neurogenic bladder. A female infant was diagnosed sonographically with isolated congenital ascites at 40 weeks' gestational age, with uneventful development prior to 40 weeks' gestational age. Magnetic resonance imaging of the spine done within the first week of life identified a lobulated spinal mass with heterogeneous enhancement within the conus medullaris. Spinal fluid analysis showed evidence of small round blue cells and the pathology from the excision biopsy of the mass confirmed a WHO grade III or IV malignant glioma. The postoperative course was uneventful with resolution of the ascites and spontaneous micturition. The patient was discharged home without an indwelling urinary catheter. We report the first documented case of a newborn infant with isolated congenital ascites from neurogenic bladder secondary to a spinal cord glioma.