Programmed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk children.

PURPOSE: To study the impact of a Retinoblastoma (Rb) screening program in the absence of genetic testing on the management and outcome of high-risk children. METHODS: This is a retrospective, clinical case series of 76 children from families involved in a Rb screening program as they had higher than normal risk as calculated by the conventional ways without genetic testing. Data included calculated risk, method of diagnosis, demographics, tumor features, treatment modalities, and management outcome. RESULTS: Out of the 76 children screened, 46 children were diagnosed with Rb (12 by screening and 34 had signs of Rb), the other 30 were free of disease. Patients diagnosed by screening were younger (mean; 2.4 months vs 15.8 months for the group with signs of Rb), had significantly earlier tumor stage at diagnosis (p = .0001), higher eye salvage rate (p = .0001), less need for systemic chemotherapy (p = .022), and better visual outcome (p = .0017) than the other group. None of the eyes were group D or E, enucleated or irradiated. Six (50%) patients were cured without chemotherapy, and the visual acuity was 0.5 or better in 55% of eyes. Of interest, 71% of tumors were diagnosed by the age of 6 months, 90% by the age of 1 year, and no new tumor appeared after the age of 2 years. CONCLUSION: Even in the absence of genetic testing, screening for children with high risk for Rb is effective in enhancing early diagnosis, improving visual outcome, and increasing eye salvage rate with limited exposure to treatment burden.

Optimal timing for a repeat fine-needle aspiration biopsy of thyroid nodule following an initial nondiagnostic fine-needle aspiration.

BACKGROUND: In the case of a nondiagnostic thyroid fine-needle aspiration (FNA) biopsy result, recent guidelines from the Bethesda system recommend repeat thyroid FNA after 3 months to prevent false-positive results. We aimed to examine our institutional data to determine whether the 3-month period affects the diagnostic yield of repeat biopsies. METHODS: A retrospective review of patient records over a 5-year period at our institution was performed. Patients who required repeat FNA due to nondiagnostic results were included. The time between the FNA biopsies, adequacy of the FNA specimens, as well as the surgical pathology diagnosis were analyzed. RESULTS: We identified 317 patients who required a repeat FNA. Of these, 96 (30.3%) patients had repeat FNAs less than 3 months after initial biopsy, while 221 (69.7%) patients had repeat FNAs in greater than 3 months. One hundred five patients were referred to our clinic with an initial nondiagnostic biopsy from an outside institution. Repeat FNA was nondiagnostic in 35 patients (11.04%) in the total study population. There was no difference in satisfactory diagnostic yield between repeat FNAs performed greater than 3 months (201 patients, 90.95%) or less than 3 months (81 patients, 84.38%) after the initial biopsy (P = .117). Of the 35 patients with repeat nondiagnostic biopsy, 17 patients underwent diagnostic lobectomy and 3 (17.6%) patients were found to have malignant disease. CONCLUSIONS: Early (<3 months) repeat FNA does not affect diagnostic yield of the subsequent sample. Patients with suspicious thyroid nodules could therefore receive a repeat FNA as soon as needed, rather than waiting 3 months. The shortened biopsy interval would alleviate stress on patients with benign nodules and expedite surgical intervention in patients with malignancy.