A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.

Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region. Array-CGH revealed a 7.1 Mb deletion causing haploinsufficiency of several genes including MBD5, ACVR2, KIF5C, and EPC2. This patient presents with additional findings to those already described in individuals who have deletions of MBD5 including toes absence of halluces, pure red cell aplasia, and intestinal aganglionosis. Interestingly, in the deleted region there are previously identified regulatory sequences which are located upstream to ZEB2, which is associated with Hirschsprung disease (HSCR). Several genes have been associated with pure red cell aplasia, but to our knowledge, this is the first time that 2q deletion is associated with this phenotype. These additional findings should be added to the list of manifestations associated with 2q deletion, and provide support for the hypothesis that this individual has a true contiguous gene deletion syndrome.

Descriptive Epidemiology in Mexican children with cancer under an open national public health insurance program.

BACKGROUND: All the children registered at the National Council for the Prevention and Treatment of Childhood Cancer were analyzed. The rationale for this Federal Government Council is to financially support the treatment of all children registered into this system. All patients are within a network of 55 public certified hospitals nationwide. METHODS: In the current study, data from 2007 to 2012 are presented for all patients (0-18 years) with a pathological diagnosis of leukemia, lymphoma and solid tumors. The parameters analyzed were prevalence, incidence, mortality, and abandonment rate. RESULTS: A diagnosis of cancer was documented in 14,178 children. The incidence was of 156.9/million/year (2012). The median age was 4.9. The most common childhood cancer is leukemia, which occurs in 49.8% of patients (2007-2012); and has an incidence rate of 78.1/million/year (2012). The national mortality rate was 5.3/100,000 in 2012, however in the group between 15 to 18 years it reaches a level of 8.6. CONCLUSIONS: The study demonstrates that there is a high incidence of childhood cancer in Mexico. In particular, the results reveal an elevated incidence and prevalence of leukemia especially from 0 to 4 years. Only 4.7% of these patients abandoned treatment. The clinical outcome for all of the children studied improved since the establishment of this national program.

Incidence of childhood cancer among Mexican children registered under a public medical insurance program.

Prior to 2005, 51% of children in Mexico diagnosed with cancer received no standardized optimal multidisciplinary medical care. A government-subsidized national cancer treatment program was therefore created for these patients and a National Cooperative Childhood Cancer Treatment Group was consequently formed for these patients. Pediatric patients with a proven diagnosis of leukemia, lymphoma or solid tumor and who were registered in the Popular Medical Insurance (PMI) program from January 2007 to December 2010, are described in this report. These patients had been enrolled and registered in one of the 49 nationwide certified medical institutions in Mexico. The national incidence and frequency data for childhood cancers were analyzed for the whole program. At the end of a 4-year study, the analysis revealed that 8,936 children from across Mexico had been diagnosed with cancer. The incidence rate for the PMI patients was 150.3/million/year (2010) for children of 0-18 years. The highest age incidence rate was 51.9 between 0 and 4 years and boys were the predominant group for all types of cancer. The leukemia incidence was 75.3/million/year (2010), and an average frequency of 50.75% throughout the 4 years. The overall mortality rate was measured at 5.4/100,000/year (2010). This study demonstrates a high frequency and incidence of childhood cancer and a beneficial impact of the PMI program over the quality of life in these children.

Tumor maligno germinal de ovario en la infancia / Malignant germ cell tumor of the ovary in children

Este estudio retrospectivo fue realizado para evaluar el cuadro clínico y el tratamiento de 21 pacientes con tumor maligno de céliulas germinales de ovario tratadas en el Instituto Nacional de pediatría en el periodo de enero de 1980 a diciembre de 1989. Los tipos histológicos fueron: disgerminoma en 11 casos, carcinoma embrionario en dos; tumor de senos endodérmicos en dos; teratoma en dos: y tumor germinal mixto en cuatro. Diez pacientes fueron estadificadas de acuerdo a la clasificación de la Federación Internacional de Ginecología y Obstetricia (FIGO). Después de realizada la cirugía, 14 pacientes fueron tratadas con quimioterapia y ocho recibieron radioterapia posoperatoria. Cinco pacientes presentaron recidiva tumoral. La mejoría en la supervivencia es atribuida a mejores técnicas de imágenes diagnósticas, a la disponibilidad de marcadores sérico tumulares para monitorizar la actividad de la enfermeda y a una quimioterapia más efectiva.

Tumor maligno germinal extragonadal en la infancia / Extragonadal gerum tumors in the infancy

Se realizó un estudio retrospectico para evaluar el cuadro clínico y el tratamiento en 13 pacientes con tumor maligno germinal extragonadal en el Instituto Nacional de Pediatría, durante el período de 1980 a 1989. Los sitios primarios fueron cinco en región pineal, cuatro en región supraselar, tres en mediastino y uno en cuerpo calloso. La edad fue de seis a 15 años (media de 11 años). Los subtipos histológicos fueron siete germinomas, cinco mixtos y un teratoma maligno. Dos pacientes presentaron recidiva.