Citations

Key Points ALK-negative ALCLs have chromosomal rearrangements of DUSP22 or TP63 in 30% and 8% of cases, respectively. DUSP22-rearranged cases have favorable outcomes similar to ALK-positive ALCLs, whereas other genetic subtypes have inferior outcomes.

Abstract Background Long‐lasting food impactions requiring endoscopic bolus removal occur frequently in patients with eosinophilic esophagitis ( E o E ) and harbor a risk for severe esophageal injuries. We evaluated whether treatment with swallowed topical corticosteroids is able to reduce the risk of occurrence of this complication. Methods We analyzed data from the S wiss E o E C ohort Study. Patients with yearly clinic visits, during which standardized assessment of symptoms, endoscopic, histologic, and laboratory findings was carried out, were included. Results A total of 206 patients (157 males) were analyzed. The median follow‐up time was 5 years with a total of 703 visits (mean 3.41 visits/patient). During the follow‐up period, 33 patients (16 % of the cohort) experienced 42 impactions requiring endoscopic bolus removal. We evaluated the following factors regarding the outcome ‘bolus impaction’ by univariate logistic regression modeling: swallowed topical corticosteroid therapy ( OR 0.503, 95%‐ CI 0.255–0.993, P = 0.048), presence of EoE symptoms ( OR 1.150, 95%‐ CI 0.4668–2.835, P = 0.761), esophageal stricture ( OR 2.832, 95%‐ CI 1.508–5.321, P = 0.001), peak eosinophil count >10 eosinophils/ HPF ( OR 0.724, 95%‐ CI 0.324–1.621, P = 0.433), blood eosinophilia ( OR 1.532, 95%‐ CI 0.569–4.118, P = 0.398), and esophageal dilation ( OR 1.852, 95%‐ CI 1.034–3.755, P = 0.017). In the multivariate model, the following factors were significantly associated with bolus impaction: swallowed topical corticosteroid therapy ( OR 0.411, 95%‐ CI 0.203–0.835, P = 0.014) and esophageal stricture ( OR 2.666, 95%‐ CI 1.259–5.645, P = 0.01). Increasing frequency of use of swallowed topical steroids was associated with a lower risk for bolus impactions. Conclusions Treatment of E o E with swallowed topical corticosteroids significantly reduces the risk for long‐lasting bolus impactions.

Curricular changes continue at United States medical schools and directors of gross anatomy, microscopic anatomy, neuroscience/neuroanatomy, and embryology courses continue to adjust and modify their offerings. Developing and supplying data related to current trends in anatomical sciences education is important if informed decisions are going to be made in a time of curricular and course revision. Thus, a survey was sent to course directors during the 2012–2013 academic years to gather information on total course hours, lecture and laboratory hours, the type of laboratory experiences, testing and competency evaluation, and the type of curricular approach used at their institution. The data gathered were compared to information obtained from previous surveys and conclusions reached were that only small or no change was observed in total course, lecture and laboratory hours in all four courses; more gross anatomy courses were part of an integrated curriculum since the previous survey; virtual microscopy with and without microscopes was the primary laboratory activity in microscopic anatomy courses; and neuroscience/neuroanatomy and embryology courses were unchanged. Anat Sci Educ 7: 321–325. © 2014 American Association of Anatomists.

ABSTRACTIntroduction: Recessive mutations in the anoctamin‐5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb‐girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia. Methods: In this report we describe our clinical, electrophysiological, pathological, and molecular findings in a subject with anoctaminopathy‐5. Results: A 49‐year‐old Arabic man from a consanguineous family presented with a 5‐year history of myalgias, hyperCKemia and an episode of unprovoked rhabdomyolysis. Muscle biopsy showed mild myopathic changes and interstitial amyloid deposition. ANO5 analysis detected a novel homozygous deletion of approximately 11.9 kb encompassing exons 13–17, predicted to be pathogenic. Conclusions: Anoctaminopathy‐5 can manifest with a phenotype reminiscent of metabolic myopathy and should be considered as a potential cause of myalgia and myoglobinuria. Amyloid deposition in the muscle biopsy is helpful for the diagnosis. A novel homozygous ANO5 deletion was identified, suggesting that screening for common mutations may have low yield in non‐European subjects. Muscle Nerve 50: 610–613, 2014

Abstract Myopericytomas belong to a benign group of tumors consisting of perivascular myopericytes or pericytes with a characteristic myoid differentiation pattern. The tumor is histologically and radiographically heterogenous, similar to superficial myofibromas. We report on a case of a myopericytoma arising in the hypothenar eminence of a 58-year-old man with a history of over 15 years of ulnar-sided and midcarpal wrist pain. Decision was made to excise the mass after it had increased in size by over 50 % over a 10-year period. Excision of the mass led to remarkable relief of his symptoms in the hypothenar as well as midcarpal regions. Consideration of this rare perivascular tumor should be included in patients with slow-growing benign appearing masses within the subcutaneous tissues of the hand.

AbstractBackgroundVascular events in essential thrombocythemia (ET) are associated with advanced age and thrombosis history. Recent information suggests additional effect from the presence of specific mutations.ObjectivesTo examine the influence of age and thrombosis history on the reported association between mutational status and thrombosis‐free survival in ET.Patients and MethodsAnalysis was performed using a Mayo Clinic cohort of 300 ET patients, and key findings were reanalyzed by including additional 102 Italian patients.ResultsAmong 300 Mayo patients with ET (median age 55 yr, 60% females), mutational frequencies were 53% JAK2, 32% CALR, 3% MPL, and 12% JAK2, CALR and MPL wild type. One hundred and six (35%) patients experienced arterial (n = 75) or venous (n = 43) events, before (n = 55) or after (n = 71) diagnosis. In univariate analysis, compared to JAK2‐mutated cases, JAK2, CALR and MPL wild type (HR 0.31, 95% CI 0.11–0.86), and CALR‐mutated (0.53, 95% CI 0.30–0.92) patients displayed better thrombosis‐free survival. JAK2, CALR, and MPL wild type remained significant (P = 0.03; HR 0.32, 95% CI 0.11–0.9) during multivariable analysis that included age (P = 0.01) and thrombosis history (P = 0.0006); a favorable impact from CALR mutations was of borderline significance (P = 0.1; HR 0.62, 95% CI 0.35–1.1), but became significant (P = 0.02) when multivariable analysis including thrombosis history (P = 0.02) was performed on patients younger than 60 yr of age.ConclusionsThe favorable impact of mutational status on thrombosis‐free survival in ET might be most evident for JAK2, CALR, and MPL wild type patients, whereas the favorable effect from CALR mutations might be confined to young patients.

Abstract Background: Individuals with a family history of colorectal cancer in first-degree relatives have an elevated risk of developing colorectal cancer themselves, particularly colorectal cancer exhibiting high microsatellite instability (MSI-high). Given that MSI-high colorectal cancer is associated with a favorable prognosis, it is plausible that having a family history of colorectal cancer could, in turn, be favorably associated with colorectal cancer survival. Methods: This study comprised N = 4,284 incident colorectal cancer cases enrolled in the Colon Cancer Family Registry via population-based cancer registries. Using Cox proportional hazards regression, we evaluated the association between family history and both overall and disease-specific survival, accounting for MSI status and tumor site via stratified analyses and statistical adjustment. Results: There was no evidence of association between family history and overall [hazard ratio (HR), 0.92; 95% confidence interval (CI), 0.79–1.08] or disease-specific survival (HR, 1.03; 95% CI, 0.85–1.24) for all cases combined, after adjustment for MSI status or tumor site. Only for rectal cancer cases was colorectal cancer family history modestly associated with more favorable overall survival (HR, 0.75; 95% CI, 0.56–0.99). Conclusions: Although individuals with a family history of colorectal cancer were more likely to have MSI-high tumors than those with nonfamilial disease, this did not translate to a survival benefit. Impact: Overall, there is no evidence that family history of colorectal cancer is associated with colorectal cancer survival; however, specific mechanisms underlying family history may have prognostic impact and merit further study. Cancer Epidemiol Biomarkers Prev; 23(8); 1700–4. ©2014 AACR.