Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.

Hereditary cancer predisposition accounts for more than 10% of all cancers in pediatric age group and this is increasingly recognized as an important entity because of modern sequencing techniques. We report a rare association of two concurrent cancer predisposition syndromes, BRCA2 and PMS2, in a young child who presented with concurrent malignancies including Wilms tumor, myelodysplastic syndrome and an indeterminate brain lesion who succumbed to his disease. Multiple synchronous malignancies present difficult clinical and psycho-social challenges which need to be carefully addressed in the setting of a multi-disciplinary team approach.

WNT-activated Pediatric Medulloblastoma Associated With Metastasis to the Suprasellar Region and Hypopituitarism.

We report on a rare association of WNT-activated medulloblastoma with metastasis to the suprasellar region. Medulloblastoma is the commonest brain tumor in children, and the most common pattern of metastatic disease is that of leptomeningeal involvement and spinal metastasis. Historically, medulloblastoma patients were categorized into different risk groups on the basis of age, histology, size of residium after surgery, and metastatic status, but the discovery of at least 4 molecular subgroups has changed the way these tumors are now treated. We report a 6-year-old patient who had a rare association of WNT-activated medulloblastoma with suprasellar metastasis and went on to develop hypopituitarism during the course of treatment. He remains alive 1 year after completing treatment.

Radiation Induced Multiple Skin Neoplasms Following Craniospinal Irradiation for Medulloblastoma. A Case Report.

BACKGROUND Following craniospinal irradiation in children with medulloblastoma, secondary neoplasms are among the most serious long-term sequelae that include leukemias and solid tumors of the urinary or digestive tracts, thyroid, skin, and central nervous system. Furthermore, in children with Gorlin syndrome following craniospinal irradiation for medulloblastoma, there is a rising incidence of skin and non-skin malignancies. CASE REPORT The patient in the present study was a 19-year-old female who was treated with craniospinal irradiation and chemotherapy following gross total resection (GTR) for medulloblastoma at the age of 4 years. Fifteen years later, she developed a primary adnexal tumor at the medial aspect of her left thigh, glomangioma at the skin of her upper abdomen, dermatofibrosarcoma protruberans at the skin of her upper back, and Kaposiform hemangioendothelioma of the upper abdomen. All these tumors were successfully managed with radical resection without further adjuvant treatment. CONCLUSIONS Metachronous of development of 4 histopathologically different skin tumors following craniospinal irradiation for medulloblastoma in long-term survivors has not previously been reported. The present case warrants a detailed dermatological periodic inspection in such patients.

A Prospective Study on the Incidence and Outcomes of Neonatal Thrombocytopenia at a Tertiary Care Facility in Central Saudi Arabia.

BACKGROUND: The incidence of neonatal thrombocytopenia is low, yet highly dependent on the populations studied. PURPOSE: To assess the incidence of neonatal thrombocytopenia and identify factors associated with its outcomes, namely time to disease onset, recovery duration, and platelet count. METHODS: A prospective observational study was conducted between May and October 2013 at a large tertiary care facility in Saudi Arabia. Neonates with a platelet count of fewer than 150,000/µL of blood were followed up until their recovery or death. RESULTS: The period incidence of neonatal thrombocytopenia was 84/4379 (1.9%). The mortality rate associated with the condition was 68/100,000 births. The male-female ratio of neonates with thrombocytopenia was 2.4:1. The mean (standard deviation) time to disease onset was 1.83 (1.29) days, whereas that of recovery duration was 15.35 (18.46) days. The mean (standard deviation) platelet count at onset was 109,543 (32,826)/µL of blood, whereas that of the increase in platelet count from onset to recovery was 121,876 (78,218)/µL of blood. Treatment comprised monitoring/spontaneous recovery (n = 52, 64.2%) or platelet transfusion (n = 9, 11.1%), immunoglobulins (n = 8, 9.9%), or a combination of both (n = 12, 14.8%). Neonates with a higher gestational age (ß = 8061, t = 2.456) and late disease onset (ß = 26,178, t = 3.969) were more likely to have a larger increase in platelet count from onset to recovery than those with a lower gestational age (adjusted P = .017) and earlier disease onset (adjusted P < .001). IMPLICATIONS: The high incidence of neonatal thrombocytopenia in this Middle Eastern setting indicates that it may be dependent on the population studied. Special attention should be focused on neonates of lower gestational ages and with an early disease onset, because their platelet count recovery may be slower than that of the countergroup.