Results 91 to 100 of about 13,351 (224)

Classification of Myelodysplastic, Myeloproliferative, and Myelodysplastic/Myeloproliferative Neoplasms: The Past, Present, and Future

American Journal of Hematology, EarlyView.
ABSTRACT With the recent publication of new classification systems of hematopoietic neoplasms, understanding how recognition of disease entities has occurred over time and the subsequent development of formal disease classifications is of importance. This review focuses on the early recognition of myeloid disorders, especially chronic myeloid disorders,
Daniel A. Arber, Attilio Orazi
wiley   +1 more source

Metastatic sporadic paraganglioma with EWSR1::CREM gene fusion: A unique molecular profile that expands the phenotypic diversity of the molecular landscape of the EWSR1::CREM gene fusion positive tumors

Genes, Chromosomes and Cancer, Volume 62, Issue 2, Page 85-92, February 2023., 2023
Abstract Chromosomal translocations with gene fusions are uniquely rare events in paraganglioma, mostly involving UBTF::MAML3 gene fusion. Precedent literature suggests that tumors involving MAML3 gene fusion correlate with poor clinical outcomes. Herein, we report a case of metastatic sporadic paraganglioma harboring EWSR1::CREM gene fusion in a 36 ...
Sehrish Javaid, Ashley Patton, Gabriel Tinoco, Steve Oghumu, Obiajulu Hans Iwenofu   +4 more
wiley   +1 more source

Why Mutant Allele Frequencies in Oncogenes Peak Around 0.40 and Rapidly Decrease? [PDF]

arXiv, 2016
The mutant allele frequencies in oncogenes peak around 0.40 and rapidly decrease. In this article, we explain why this is the case. Invoking a key result from mathematical analysis in our model, namely, the inverse function theorem, we estimate the selection pressures of the mutations as a function of germline allele frequencies.
arxiv  

Allogeneic Stem Cell Transplant for Myelofibrosis and Myelodysplastic Syndromes: A Contemporary Review

American Journal of Hematology, EarlyView.
ABSTRACT Allogeneic hematopoietic stem‐cell transplantation (HCT) remains the only potentially curative therapy for patients with myelodysplastic neoplasms (MDS) and myelofibrosis (MF) and is the standard care for eligible patients with higher‐risk disease. Despite significant advancements, both diseases pose unique challenges due to their clinical and
Nico Gagelmann, Nicolaus Kröger
wiley   +1 more source

Germline KRAS mutations cause Noonan syndrome

Nature Genetics, 2006
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause approximately 50% of cases of Noonan syndrome. The SHP-2 phosphatase relays signals from activated receptor complexes to downstream effectors, including Ras.
Schubbert, S., Zenker, Martin, Rowe, S. L., Boll, S. B., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, Lars-Erik, Nguyen, H., West, B., Zhang, K., Sistermans, E., Rauch, A., Niemeyer, C. M., Shannon, Kevin M., Kratz, Christian P.   +17 more
openaire   +5 more sources

Phase Ib study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis

Hepatology, EarlyView., 2022
Phase 1b study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis. Abstract Background and Aims We evaluated the efficacy and safety of the antiangiogenic tyrosine kinase inhibitor anlotinib plus TQB2450, a programmed death‐ligand 1 inhibitor in pretreated advanced biliary tract cancers (BTCs ...
Jun Zhou, Yongkun Sun, Wen Zhang, Jiajia Yuan, Zhi Peng, Wei Wang, Jifang Gong, Lin Yang, Yanshuo Cao, Hong Zhao, Chao Chen, Weifeng Wang, Lin Shen, Aiping Zhou   +13 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study

Hematological Oncology, Volume 40, Issue 5, Page 962-975, December 2022., 2022
Abstract Chronic lymphocytic leukemia (CLL) is a hematological disorder with complex clinical and biological behavior. TP53 mutational status and cytogenetic assessment of the deletion of the corresponding locus (17p13.1) are considered the most relevant biomarkers associated with pharmaco‐predictive response, chemo‐refractoriness, and worse prognosis ...
Giuseppa De Luca, Giannamaria Cerruti, Sonia Lastraioli, Romana Conte, Adalberto Ibatici, Nikki Di Felice, Fortunato Morabito, Paola Monti, Gilberto Fronza, Serena Matis, Monica Colombo, Sonia Fabris, Alessia Ciarrocchi, Antonino Neri, Paola Menichini, Manlio Ferrarini, Paolo Nozza, Franco Fais, Giovanna Cutrona, Mariella Dono   +19 more
wiley   +1 more source

Somatic and germline mutations in endometrial cancer

Journal of Medicine and Life
Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as PTEN, PIK3CA, and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited.
Botea, Robert, Piron-Dumitrascu, Madalina, Georgescu, Tiberiu Augustin, Bohiltea, Camil Laurentiu, Voinea, Silviu Cristian, Varlas, Valentin Nicolae, Iacoban, Simona Raluca, Suciu, Nicolae   +7 more
openaire   +2 more sources

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young, Deborah W. Neklason, Kathleen Clark, Bing‐Jian Feng, Megan B. Keener, Thérèse M. Tuohy, Austin Wood, Wendy C. McKinnon, Marc S. Greenblatt, Sean V. Tavtigian   +9 more
wiley   +1 more source