Risk of second malignancies among survivors of pediatric thyroid cancer.

BACKGROUND: Thyroid carcinoma is a very rare tumor in the pediatric age group, accounting for only 1.5-3% of childhood carcinomas in the United States and Europe. We aimed to identify the risk of a second malignancy among pediatric thyroid cancer survivors. METHODS: The cohort analysis consisted of pediatric cancer patients aged less than 20 years, diagnosed with a primary thyroid cancer, identified by site code ICD-0-3: C739, and reported to the SEER 9 database between 1973 and 2013. They were followed up until December 31, 2013; the end of the study period, or up to death if earlier. RESULTS: Out of 1769 patients diagnosed primarily with thyroid carcinoma, 42 patients had a total of 45 incidences of subsequent malignancies. The mean age of patients at the initial diagnosis of thyroid cancer was 16 years. Females (90.5%) had a significantly higher incidence of second malignancies (SM) than males (9.5%). The overall Standardized Incidence Ratio (SIR) of SM in the study patients was higher than expected (SIR = 1.48). Some specific sites showed significantly higher incidences: the salivary glands (SIR = 33.95), the gum and other parts of the mouth [excluding the lips, tongue, salivary glands and floor of the mouth] (SIR = 24.53)*** and the kidneys (SIR = 5.72). The overall risk of SM in patients who had received radioactive iodine was higher than expected (SIR = 4.41). The cumulative incidence of SM after treatment of thyroid cancer in children increases steadily over 40 years (11.92%). CONCLUSIONS: Race, gender, histological subtypes, and radioactive iodine are potentially significant prognostic factors for the development of SM among pediatric thyroid cancer survivors. Identification of underlying mechanisms that raise the risk of SM is important for both treatment and follow-up strategies.

Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma.

BACKGROUND: Retinoblastoma (RB) is the most common primary intraocular malignant tumor in children. RB is mostly caused by biallelic mutations in RB1 and occurs in hereditary and non-hereditary forms according to the "two-hit" theory. RB1 mutations comprise point mutations, indels, large deletions, and duplications. Genetic testing is essential for the comprehensive treatment and management of patients with RB. AIM: The aim was to evaluate RB1 copy number variations (CNVs) using MLPA versus FISH assays in group of Egyptian patients with RB. RESULTS: 16.67% showed an RB1 deletion, abnormal methylation status, or both. CONCLUSION: Our results suggested MLPA is a fast, reliable, and powerful method and should be used as a first-line screening tool for detecting RB1 CNVs in patients with RB. Moreover, MLPA is advantageous as it evaluates the methylation status/inactivation of RB1, not possible by FISH.

Laparoscopy in the management of impalpable testis (Series of 64 Cases).

BACKGROUND: The undescended testis represents one of the most common disorders of childhood. Laparoscopy has been widely used both in the diagnosis and treatment of non-palpable testis. In this study, we investigated and evaluated the usefulness of laparoscopy in the diagnosis and treatment of no palpable testis. PATIENTS AND METHODS: From January 2003 to January 2008, we used laparoscopy in the management of 64 patients with 75 impalpable testes. Their ages varied from 1 to 15 years (median age = 4.6 years). The site and the size of the testes were localised by abdominopelvic ultrasonography in all 64 children for accurate diagnosis. One stage laparoscopic orchiopexy was performed in 26 testes, staged Fowler-Stephens orchiopexy was underwent in 17 testes, while laparoscopic orchidectomy was done in 5 testes. Follow-up by clinical examination and colour Doppler ultrasound was performed in every patient who underwent orchiopexy. RESULTS: There were 11 patients with bilateral non-palpable testes. The overall diagnostic agreement of ultrasound with laparoscopy was seen in only 16 out of 75 testes (21.3%). The results of diagnostic laparoscopy were varied and showed various pathological. Conditions and positioned of the testes, such as 20 low intra-abdominal testes (26.6%), 17 testes were high intra-abdominal (22.7%), and 18 testes (24%) entered the inguinal canal. Associated inguinal hernia was present in 4 patients. After a mean follow-up period of 26 months (6 months - 5 years), all testes were in the bottom of the scrotum except 3 testes were retracted to the neck of the scrotum and atrophy of the testis occurred in 2 patients (2.7%). CONCLUSION: Laparoscopy has proven to be the only diagnostic modality where the findings provide a clear dependable direction for the definitive management of impalpable testes, so it allows an accurate diagnosis and definitive treatment in the same sitting.