Rare myeloid sarcoma with KMT2A (MLL)-ELL fusion presenting as a vaginal wall mass.

BACKGROUD: Myeloid sarcoma (MS) is a rare neoplasm of immature myeloid precursors that form tumor mass outside the bone marrow. The diagnosis of de novo MS can be challenging, particularly in patients with no prior history of hematologic malignancies or when MS involves unusual anatomic sites. CASE PRESENTATION: The patient was a 53-year-old woman with a history of uterine fibroids and vaginal bleeding for many years who presented with a vaginal wall mass. The tumor had histologic and phenotypic features of histiocytic sarcoma, however, overlapping with a possible extramedullary MS. Using a comprehensive genomic profiling, we were able to identify recurrent chromosomal aberrations associated with MS including a rare KMT2A-ELL fusion, losses of chromosomes 1p, 9, 10, 15, 18, and gain of chromosome 1q and mutations in FLT3 and PTPN11, and achived the final diagnosis of a de novo MS. The patient received standard treatment for acute myeloid leukemia regimen with stem cell transplantation and achieved complete remission. CONCLUSION: Our case illustrates the clinical utility of comprehensive genomic profiling in assisting the diagnosis or differential diagnosis of challenging MS or histiocytic sarcoma cases, and in providing important information in tumor biology for appropriate clinical management.

Co-benefits of designing communities for active living: an exploration of literature.

To reverse the global epidemic of physical inactivity that is responsible for more than 5 million deaths per year, many groups recommend creating "activity-friendly environments." Such environments may have other benefits, beyond facilitating physical activity, but these potential co-benefits have not been well described. The purpose of the present paper is to explore a wide range of literature and conduct an initial summary of evidence on co-benefits of activity-friendly environments. An extensive but non-systematic review of scientific and "gray" literature was conducted. Five physical activity settings were defined: parks/open space/trails, urban design, transportation, schools, and workplaces/buildings. Several evidence-based activity-friendly features were identified for each setting. Six potential outcomes/co-benefits were searched: physical health, mental health, social benefits, safety/injury prevention, environmental sustainability, and economics. A total of 418 higher-quality findings were summarized. The overall summary indicated 22 of 30 setting by outcome combinations showed "strong" evidence of co-benefits. Each setting had strong evidence of at least three co-benefits, with only one occurrence of a net negative effect. All settings showed the potential to contribute to environmental sustainability and economic benefits. Specific environmental features with the strongest evidence of multiple co-benefits were park proximity, mixed land use, trees/greenery, accessibility and street connectivity, building design, and workplace physical activity policies/programs. The exploration revealed substantial evidence that designing community environments that make physical activity attractive and convenient is likely to produce additional important benefits. The extent of the evidence justifies systematic reviews and additional research to fill gaps.

Active living research: creating and using evidence to support childhood obesity prevention.

The second phase of Active Living Research (ALR-2, 2007-2012) focused on advancing the Robert Wood Johnson Foundation (RWJF)'s goal of reversing the childhood obesity epidemic. The mission was to stimulate and support research to identify environmental factors and policies that influence physical activity for children and families to inform effective childhood obesity prevention strategies, with an emphasis on the lower-income and racial/ethnic communities with highest childhood obesity prevalence. The present report describes ALR activities undertaken to accomplish three goals. The first goal-to build an evidence base-was furthered by funding 230 competitive grants to identify and evaluate promising environment and policy changes. More than 300 publications have been produced so far. The second goal-to build an interdisciplinary and diverse field of investigators-was supported through annual conferences and linked journal supplements, academic outreach to multiple disciplines, and grants targeting young investigators and those representing groups historically disadvantaged or underrepresented in RWJF-funded research. The third goal-to use research to inform policy and practice-was advanced through research briefs; webinars; research-translation grants supporting ALR grantees to design communications tailored to decision-maker audiences; active engagement of policymakers and other stakeholders in ALR program meetings and annual conferences; ALR presentations at policy-related meetings; and broad outreach through a widely used website, e-mailed newsletters, and social media. ALR-2 findings and products have contributed to a rapid increase in the evidence base and field of active living research, as documented by an independent program evaluation.

Intestinal γδ T-cell lymphomas are most frequently of type II enteropathy-associated T-cell type.

Enteropathy-associated T-cell lymphoma includes type I cases and distinctive type II cases that, according to 2008 and 2010 World Health Organization descriptions, are T-cell receptor ß+. Although T-cell receptor γδ enteropathy-associated T-cell lymphomas are reported, it is unknown if they have distinctive features and if they should be categorized as enteropathy-associated T-cell lymphoma or as a mucocutaneous γδ T-cell lymphoma. To address these questions, the clinicopathologic, immunophenotypic, molecular, and cytogenetic features of 5 γδ-enteropathy-associated T-cell lymphomas were investigated. Only 1 patient had celiac disease and had type I enteropathy-associated T-cell lymphoma, and the others fulfilled the histopathologic criteria for type II enteropathy-associated T-cell lymphoma. All lacked cutaneous involvement. A celiac disease-associated HLA type was found in the patient with CD and one of four others. All were T-cell receptor γ+, T-cell receptor δ+, ßF1-, CD3+, CD7+, CD5-, CD4-, and TIA-1+ with variable staining for CD2 (3/5), CD8 (2/5), Granzyme B (1/5), and CD56 (4/5). Fluorescence in situ hybridization demonstrated 9q34 gains in 4 cases, with 9q33-34 gains by single nucleotide polymorphism in 3 of these. Single nucleotide polymorphism analysis also demonstrated gains in 5q34-q35.1/5q35.1 (4/5), 8q24 (3/5), and in 32 other regions in 3 of 5 cases. Vδ1 rearrangements were identified in 4 of 4 cases with documented clonality showing the same clone in normal-appearing distant mucosa (3/3 tested cases). Thus, γδ-enteropathy-associated T-cell lymphomas share many features with other enteropathy-associated T-cell lymphoma and are mostly of type II. Their usual nonactivated cytotoxic phenotype and Vδ1 usage are features unlike many other mucocutaneous γδ T-cell lymphomas but shared with hepatosplenic T-cell lymphoma. These findings support the conclusion that a γδ T-cell origin at extracutaneous sites does not define a specific entity.

Effect of load position on physiological and perceptual responses during load carriage with an internal frame backpack.

The purpose of this study was to determine the effect of load position in an internal frame backpack on physiological and perceptual variables. Ten female participants walked on a level treadmill for 10 min carrying 25% of their body weight in a high, central, or low position. The variables measured included oxygen consumption (VO2), heart rate (HR), respiratory exchange ratio (R), respiratory rate (RR), minute ventilation (VE), and rating of perceived exertion (RPE). VO2, VE, and RPE were significantly lower in the high position (18.6 +/- 2.3 ml/kg/min, 31.7 +/- 5.0 l/min, 2.8 +/- 0.8, respectively) compared to the low position (22.2 +/- 3.0 ml/kg/min, 38.6 +/- 7.5 l/min, 3.7 +/- 1.0, respectively). HR, R, and RR did not change significantly as the load was moved from the high (129.8 +/- 16.8, 0.89 +/- 0.06, 30.3 +/- 4.2, respectively) to the low position (136.0 +/- 25.3, 0.92 +/- 0.04, 33.8 +/- 5.2, respectively). The results of this study suggest that load placement is an important factor in the physiological and perceptual responses to load carriage, and that packing heavy items high in the backpack may be the most energy efficient method of carrying a load on the back.