Rabbit Anti-Human PTPN11 monoclonal antibody, clone TO18-43

Multiple lentigines syndrome (MLS) is an autosomal dominant disease which is usually diagnosed clinically by the presence of characteristic features. The molecular genetic testing is an adjuvant diagnostic tool to identify the mutation of particular genes such as PTPN11 genes, RAF1, BRAF or MAP2K1 genes. This syndrome was formerly known as LEOPARD syndrome or Noonan syndrome with multiple lentigines. 'LEOPARD syndrome' is an acronym of characteristic features (Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness). There was no previous case report about any glomerulonephropathy in association with MLS. We present a case of a patient with MLS with recurrent nephrotic syndrome who was found to have histologic evidence of 'full house' glomerulopathy.

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.