Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.

Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions. Acta Haematol. 2020 Jun 15;:1-11 Authors: Alhumaid MS, Dasouki MJ, Ahmed SO, AbalKhail H, Hagos S, Wakil S, Hashmi SK Abstract Acute myeloid leukemia (AML) in the setting of Noonan syndrome (NS) has been reported before without clear guidelines for treatment or prognosis in these subgroups of patients, most likely due to its rarity and incomplete understanding of the pathogenesis of both diseases. In the current era of next-generation sequencing-based genomic analysis, we can better identify patients with NS with more accurate AML-related prognostic markers. Germline mutations in PTPN11 are the most common cause of NS. Somatic mutations in NPM1 occur frequently in AML. Here, we describe a young adult patient with a novel combined germline PTPN11 and somatic NPM1, IDH1,and BCL6 mutations who presented with fatal AML. In addition, a 50.5-Mb interstitial deletion of 7q21.11-q33 in tumor DNA was detected by chromosomal microarray analysis. While mutations in the transcriptional repressor BCL6 are known to contribute to the pathogenesis of diffuse large B cell lymphoma (DLBCL) and chronic lymphocytic leukemia (CLL), its novel identification in this patient suggests an expanded role in aggressive AML. The identification of key molecular aberrations including the overexpression of SHP2, which drives leukemogenesis and tumorigenesis, has led to...
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research

Related Links:

Authors: Lee JY, Kim HJ, Kwon E, Choi JY, Oh HJ, Kim JS PMID: 33029984 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Morimoto A, Fujioka Y, Ushiku T, Kurokawa M PMID: 33028779 [PubMed - as supplied by publisher]
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
We report the rare case of a patient co-existing NS and DLBCL. DLBCL might be pathogenesis of NS; the findings are supported by the presence of MN, an underlying malignancy (DLBCL), and the lack of anti-PLA2R antibodies. Although further investigation is warranted, our case suggests that DLBCL is a possible cause of secondary MN. PMID: 33028760 [PubMed - in process]
Source: The Tohoku Journal of Experimental Medicine - Category: Research Authors: Tags: Tohoku J Exp Med Source Type: research
Authors: Abdeta D, Kebede N, Giday M, Terefe G, Abay SM Abstract Microbial resistance to the few conventional antitrypanosomal drugs, increasing resistance of vectors to insecticides, lack of effective vaccines, and adverse effects of the existing antitrypanosomal drugs justify the urgent need for effective, tolerable, and affordable drugs. We assessed antitrypanosomal effects of the hydromethanolic extract of Echinops kebericho Mesfin roots against Trypanosoma congolense field isolate using in vitro and in vivo techniques. Parasite load, packed cell volume (PCV), body weight, and rectal temperature in Swiss albino...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Authors: Cáceres-Perkins W, Cabanillas F, San Vicente G, Rivera-Franceschini C, Sobrino-Najul E, Vega-Vázquez LI, Conde-Sterling D Abstract Mucosa-associated lymphoid tissue (MALT) lymphomas are B-cell neoplasms that commonly affect the gastrointestinal (GI) tract, usually the stomach. In most cases, extranodal marginal zone lymphoma (ENMZL) is an indolent disease. Bone marrow involvement is common with MALT lymphoma accompanied by paraproteinemia; such involvement impels disease progression. Here, we present the case of an 82-year-old Hispanic patient with long-standing ENMZL in whom the gastric site...
Source: Puerto Rico Health Sciences Journal - Category: International Medicine & Public Health Tags: P R Health Sci J Source Type: research
CONCLUSION: Our data suggest that these two polymorphisms do not contribute to AD in the population from the Mersin region of the Eastern Mediterranean. Further studies with larger sample sizes must be conducted to ascertain the association between the 2 polymorphisms. PMID: 33031695 [PubMed - as supplied by publisher]
Source: Puerto Rico Health Sciences Journal - Category: International Medicine & Public Health Tags: P R Health Sci J Source Type: research
Conclusion: Pola + BR is cost-effective versus BR for the treatment of transplant-ineligible relapsed/refractory diffuse large B-cell lymphoma in the US. PMID: 33028076 [PubMed - as supplied by publisher]
Source: Journal of Comparative Effectiveness Research - Category: General Medicine Tags: J Comp Eff Res Source Type: research
Publication date: Available online 9 October 2020Source: Journal of EthnopharmacologyAuthor(s): Aveen N. Adham, Alaadin M. Naqishbandi, Thomas Efferth
Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
No abstract available
Source: Annals of Plastic Surgery - Category: Cosmetic Surgery Tags: Editorials Source Type: research
Publication date: Available online 8 October 2020Source: Hematology/Oncology and Stem Cell TherapyAuthor(s): Ram Vasudevan Nampoothiri, Shiyi Chen, Ivan Pasic, Zeyad Al-Shaibani, Wilson Lam, Fotios V. Michelis, Dennis Dong Hwan Kim, Auro Viswabandya, Armin Gerbitz, Jeffrey Howard Lipton, Rajat Kumar, Jonas Mattsson, Arjun Datt Law
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
More News: Acute Leukemia | Acute Myeloid Leukemia | Chronic Leukemia | Chronic Lymphocytic Leukemia | Hematology | Leukemia | Lymphoma | Noonan Syndrome | Switzerland Health