Congenital Teratocarcinosarcoma With CTNNB1 Gene Mutation Presenting as an Ocular Mass.

Teratocarcinosarcoma is an extremely rare malignancy of the nasal cavity and paranasal sinuses. It exhibits both sarcomatous and carcinomatous components. Less than 100 cases are reported. It presents in adults with only two reported cases in infancy. Here we present a case of 3-week-old female with antenatally detected ocular mass. MRI revealed an exophytic right ocular mass (10 × 7.0 × 7.0 cm) with intracranial extension. The tumor consisted of malignant glands and mesenchymal elements of undifferentiated blastema-like cells and immature neuroepithelium. After an initial diagnosis and treatment for a Wilms tumor protocol, the mass showed no response. A second opinion rendered a diagnosis of sinonasal teratocarcinosarcoma. The patient underwent surgical resection and seven cycles of CNS ICE chemotherapy. A second debulking surgery revealed a very scant viable tumor with post-treatment changes. The patient is alive at 43 months on weekly vincristine maintenance. Molecular testing revealed a somatic CTNNB1 gene mutation. In conclusion, this is a rare and aggressive tumor which showed disease free survival beyond that reported in the literature with the appropriate use of multimodality therapy.

Epidemiology of brain tumors in the United Arab Emirates: a National Registry Cross-sectional Study.

BACKGROUND: Cancer is the third leading cause of death in the United Arab Emirates (UAE); brain cancer ranks 10th among the cancers, with 2.9% of the primary cancers originating from the nervous system. The epidemiology of brain cancers has not been explored. The unique population dynamics of UAE make it a fertile ground for analyzing the epidemiology of brain cancer. In this study, we aim to look at the frequency patterns and distribution of malignant primary brain tumors in the UAE. METHODS: A cross sectional study was carried out using data obtained from the Tawam Hospital Cancer Registry for the years 1984-2017. The sample size included 756 diagnosed cases of malignant primary brain tumors in the UAE. Using SPSS and Excel software, frequencies, mean ages, histological type frequencies, average annual crude incidence rates and average annual age adjusted incidence rates were analyzed. RESULTS: The expatriate population had higher percentage of brain tumors (72%) than the locals. The mean age at diagnosis was 33.48 years (± 21.14 years) with a male to female ratio of 1.69. Diffuse astrocytic and oligodendroglial tumors were the most commonly diagnosed tumors overall. Older adults had more cases of lymphoma while embryonal and ependymal tumors were most commonly seen in younger age groups. The overall average annual crude incidence rate for 2013-2016 for all primary brain tumors was 0.56 per 100,000 population. CONCLUSION: This is the first cancer registry study in the UAE that describes histological types of primary brain tumors based on the WHO 2016 classification of brain tumors and highlights their incidence rates. Through this study, several patterns of incidence trends for brain tumors in the UAE, according to histological types, sex and age groups have been recognized. Comparative studies would help identify the influence of potential changes in lifestyle, environmental or occupational risk factors on primary brain tumors.

Disseminated Bacillus Calmette-Guérin (BCG) infections in infants with immunodeficiency.

BACKGROUND: The Bacillus Calmette-Guérin (BCG) preparations are live-attenuated derivatives of Mycobacterium bovis. These products are used to vaccinate infants at birth, a practice that may result in a disseminated infection in those patients who have an unidentified immunodeficiency. CASE PRESENTATION: Patients who were immunized at birth with BCG and who developed a disseminated infection are reported here to emphasize the importance of taking an extensive medical history before giving the BCG vaccine. Patient 1 has a sibling who had familial hemophagocytic lymphohistiocytosis. Patient 2 has a severe immunodeficiency with profound lymphopenia. Patient 3 has a sibling who had a disseminated BCG infection. Patient 4 has two siblings with an immunodeficiency disorder; one sibling passed away in infancy and one is receiving regular immunoglobulin infusions. Patient 5 has profound lymphopenia and his brother had cytomegalovirus (CMV) pneumonitis and passed away in infancy. CONCLUSIONS: These unfortunate events could have been avoided by compiling the relevant clinical and laboratory information. These cases also underscore the importance of a strict adherence to the BCG vaccine policies. Local and international registries that estimate the birth prevalence of primary immune deficiencies are needed prior to implementing universal BCG vaccination administration.