Results 61 to 70 of about 264 (130)

Targeted next-generation sequencing in blast phase myeloproliferative neoplasms

Blood Advances, 2018
: Among 248 consecutive patients with blast phase myeloproliferative neoplasm (MPN-BP), DNA collected at the time of blast transformation was available in 75 patients (median age, 66 years; 64% men).
Terra L. Lasho, Mythri Mudireddy, Christy M. Finke, Curtis A. Hanson, Rhett P. Ketterling, Natasha Szuber, Kebede H. Begna, Mrinal M. Patnaik, Naseema Gangat, Animesh Pardanani, Ayalew Tefferi   +10 more
doaj   +1 more source

Noonan syndrome an overview and a case description from Astana, Kazakhstan [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2017
Noonan syndrome is an autosomal dominant genetic disorder characterized by facial dysmorhpic features, short stature and heart defects, such as pulmonary valve stenosis and heart hypertrophy (Roberts et al., 2013).
Sholpan Kairmukhanova, Adila Izgutdina, Galymzhan Kuatbay   +2 more
doaj   +1 more source

Myelodysplastic Syndromes: 2026 Update on Diagnosis, Risk‐Stratification and Management

American Journal of Hematology, Volume 101, Issue 9, Page 2393-2411, September 2026.
ABSTRACT Disease Overview The myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy.
Guillermo Garcia‐Manero
wiley   +1 more source

Signaling Mutations Negate the Favorable Impact of NPM1 Mutations in Older Patients With Newly Diagnosed Acute Myeloid Leukemia Treated With VEN/HMA

American Journal of Hematology, Volume 101, Issue 9, Page 2246-2257, September 2026.
ABSTRACT Frameshift mutations in exon 12 of nucleophosmin 1 (NPM1 mut) are among the most common mutations in acute myeloid leukemia (AML) and have historically been considered favorable‐risk in the absence of FLT3‐ITD. In the European LeukemiaNet (ELN) 2024 risk‐classification for patients treated with hypomethylating agents plus venetoclax (HMA + VEN)
Fieke W. Hoff, Joshua F. Zeidner, Geeta Torlapati, Deedra Nicolet, Krzysztof Mrózek, Ying Huang, Alexander Li, Rina Li Welkie, Ronan T. Swords, Elie Traer, Eytan M. Stein, Tara L. Lin, Maria R. Baer, Vu H. Duong, William G. Blum, Martha L. Arellano, Wendy Stock, Olatoyosi Odenike, Rebecca L. Olin, Catherine C. Smith, Gary J. Schiller, Emily K. Curran, Onyee Chan, Christine McMahon, Michael Hochman, Kieran Sahasrabudhe, Charles Foucar, Jesus Gonzalez‐Lugo, Brittany Knick Ragon, Shivani V. Handa, Nyla A. Heerema, Timothy Chen, Molly Martycz, Mona Stefanos, Sonja G. Marcus, Leonard Rosenberg, Brian J. Druker, Ross L. Levine, Amy Burd, Ashley O. Yocum, Uma M. Borate, Alice S. Mims, Ann‐Katrin Eisfeld, John C. Byrd, Yazan F. Madanat   +44 more
wiley   +1 more source

LEOPARD SYNDROME. FAMILIAL CASES [PDF]

Romanian Journal of Pediatrics, 2014
LEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with
Sorin Ioan Iurian, Han Brunner, Helger Yntema, Bogdan Mehedintu   +3 more
doaj   +1 more source

Histiocytosis development and clinical variation through the lens of genomics

The Journal of Pathology, Volume 270, Issue 1, Page 23-39, September 2026.
Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps, Astrid GS van Halteren, Tom van Wezel, Pancras CW Hogendoorn   +3 more
wiley   +1 more source

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

Brain Pathology, Volume 36, Issue 5, September 2026.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood, Gabriel Zangirolani, Jinho Lee, Melanie H. Hakar, Tanaya Neff, Kevin Y. Zhang, Christopher L. Corless   +6 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Characterization of the clonal hierarchy and immunophenotype of PTPN11 mutations in acute myeloid leukemia

JCI Insight
Mutations in protein tyrosine phosphatase non-receptor type 11 (PTPN11) have been considered late acquired mutations in acute myeloid leukemia (AML) development.
Sydney Fobare, Chia Sharpe, Kate Quinn, Kinsey Bryant, Linde A. Miles, Robert L. Bowman, Carolyn Cheney, Casie Furby, Marissa Long, Kaytlynn Fyock, Ben Wronowski, James R. Lerma, Krzysztof Mrózek, Deedra Nicolet, Thomas M. Sesterhenn, Megan E. Johnstone, Jianmin Pan, Shesh N. Rai, Chandrashekhar Pasare, Nives Zimmermann, Wen-Mei Yu, Cheng-Kui Qu, Andrew Carroll, Richard Stone, Eunice S. Wang, Jonathan Kolitz, Bayard Powell, John P. Perentesis, Ann-Kathrin Eisfeld, Erin Hertlein, John C. Byrd   +30 more
doaj   +1 more source

Identification of Novel Therapeutic Agent Candidates Through High Throughput Screening With Chemical Library Based on Molecular Subclassification in Canine Histiocytic Sarcoma Cell Lines

Veterinary and Comparative Oncology, Volume 24, Issue 3, Page 554-567, September 2026.
ABSTRACT Effective chemotherapy for canine histiocytic sarcoma (CHS) has yet to be established. In our previous study, CHS cell lines were subclassified into two groups based on their gene expression profiles: Group A and Group B. This study aimed to identify novel therapeutic agents that are effective against each CHS subgroup, and we performed high ...
Hiroki Sakuma, Hirotaka Tomiyasu, Mari Takamiya, Yuko Goto‐Koshino, Atsushi Tsukamoto, Makoto Bonkobara, Masaru Okuda   +6 more
wiley   +1 more source