Anti-PTPN11 polyclonal antibody

Background Genetic testing is helpful for diagnosis of hypertrophic cardiomyopathy (HCM) mimics. Little data are available regarding the yield of such testing and its clinical impact. Methods The HCM genetic database at our center was used for identification of patients who underwent HCM-directed genetic testing including at least 1 gene associated with an HCM mimic (GLA, TTR, PRKAG2, LAMP2, PTPN11, RAF1, and DES). Charts were retrospectively reviewed and genetic and clinical data extracted. Results There were 1731 unrelated HCM patients who underwent genetic testing for at least 1 gene related to an HCM mimic. In 1.45% of cases, a pathogenic or likely pathogenic variant in one of these genes was identified. This included a yield of 1% for Fabry disease, 0.3% for familial amyloidosis, 0.15% for PRKAG2-related cardiomyopathy, and 1 patient with Noonan syndrome. In the majority of patients, diagnosis of the HCM mimic based on clinical findings alone would have been challenging. Accurate diagnosis of an HCM mimic led to change in management (eg, enzyme replacement therapy) or family screening in all cases. Conclusions Genetic testing is helpful in the diagnosis of HCM mimics in patients with no or few extracardiac manifestations. Adding these genes to all HCM genetic panels should be considered.

Background and Aims. The biological characterization of childhood acute myeloid leukemia (c-AML) is an important outcome predictor. In Brazil, very little is known about the frequency of AML subgroups, although c-AML accounts for about 18% of leukemias. We carried out this study to investigate the contribution of type I and II gene mutations in the probability of overall survival (pOS) of c-AML in Brazil. Methods. Seven hundred and three de novo pediatric AML cases (2000-2015) were assessed throughout a multicentric network study. Mutations in hotspot regions of FLT3, NRAS, KRAS, PTPN11, and c-KIT genes were analyzed as well as fusion genes (RUIVX1-RUIVX1T1, MLL/KMT2A-r, CBF beta-MYH11, and PML-RAR alpha) associated with AML. Patients were treated out of the clinical trial although following the BFMAML2004 protocol. Acute promyelocytic leukemia (APL) was treated differently. AML with Down syndrome was excluded. Results. There were significant differences in gene mutations among age ranges (<= 2 years-old; > 2-10 years old and years old and >= 11 years old) and the nonrandom association between type 1/1I mutations. Lower white blood cell count (<= 50 x 10(9)/L) was associated with RUIVX1-RU1VX1T. I, whereas higher WBC with CBF`beta-MYH11 (p < 0.05). Cumulative pOS in 5 years was 37.7 +/- 2.8% for total AMLs and 59.8 +/- 6.2% for APL (p = 0.03). pOS differences were observed between Brazilian regions. The South Southeast regions had a better 5-year pOS, whereas the Midwest region presented the poorest pOS (23.7 +/- 4.9%). PTPNII mutations conferred an adverse prognosis as an independent prognostic factor. Conclusions. Identification of genetic subgroups contributes to the molecular epidemiology and biology of AML worldwide, reflecting the profile of pediatric AML cases in Brazil. (C) 2016 IMSS. Published by Elsevier Inc.