A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus

RFLP typing of members of a neurofibromatosis type 2 (NF2) familysuggested that affected individuals were hemizygous at the neurofilamentheavy chain (NEFH) locus, possibly as a result of a disease-associateddeletion. Conventional karyotyping revealed no evidence fora deletion and all on a majority of the affected family memberswere heterozygous for closely linked markers which mapped proximalto the NEFH locus (D22S1 and D22S56) and for the distal markersD22S32. FISH analysis confirmed a disease-associated germinaldeletion on 22q which encompassed the NEFH locus, which is knownto be very closely linked to NF2, but did not extend as faras the proximal Ewing sarcoma region or the distal leukaemiafactor (LIF) locus. PFGE analysis with a LIF cosmid subcloneidentified patient-specific NotI and MluI fragments and suggestedthat the deletion is about 700 kb in length. Although this largedeletion could be expected to eliminate a considerable fraction,and possibly all of the NF2 gene, the resulting phenotype isthe mild, so-called Gardner subtype of NF2. The deletion shouldprovide a useful mapping resource for characterising the chromosomalregion containing the NF2 locus.     

Heterogeneity in renal cell carcinoma

Introduction

In recent years, molecular characterization of renal cell carcinoma has facilitated the identification of driver genes, specific molecular pathways, and characterization of the tumor microenvironment, which has led to a better understanding of the disease. This comprehension has revolutionized the treatment for patients with metastatic disease, but despite these advancements many patients will develop resistance leading to treatment failure. A primary cause of this resistance and subsequent treatment failure is tumor heterogeneity. We reviewed the literature on the mechanisms of tumor heterogeneity and its clinical implications.

Community Engagement in Liberia: Routine Immunization Post-Ebola

A national integrated polio, measles, and deworming campaign was implemented across Liberia May 8–14, 2015. The community engagement and social mobilization component of the campaign was based on structures that had been invested in during the Ebola response. This article provides an overview of the community engagement and social mobilization activities that were conducted and reports the key findings of a rapid qualitative assessment conducted immediately after the campaign that focused on community perceptions of routine immunization in the post-Ebola context. Focus group discussions and interviews were conducted across four counties in Liberia (Montserrado, Nimba, Bong, and Margibi). Thematic analysis identified the barriers preventing and drivers leading to the utilization of routine immunization. Community members also made recommendations and forwarded community-based solutions to encourage engagement with future health interventions, including uptake in vaccination campaigns. These should be incorporated in the development and implementation of future interventions and programs.