Results 21 to 30 of about 42,888 (218)

"Transformation of chronic myelogenous leukemia to Multiple Myeloma: A case report " [PDF]

Acta Medica Iranica, 2003
Chronic myelogenous leukemia (CML) is a stem cell disorder sometimes associated with lymphoproliferative disorders. CML may precede a lymphoproliferative disorder.
"Ghavamzadeh A, Alimoghaddam K, Mehdipour P, Sharifian R, Schwanitz G, Shamshiri AR "   +5 more
doaj   +1 more source

Efficacy and safety of low‐dose imatinib in an elderly patient with mixed phenotype acute leukemia with t(9;22)(q34;q11.2);BCR‐ABL1

Clinical Case Reports, 2021
Low‐dose imatinib with monitoring of drug concentrations in blood may successfully control Philadelphia chromosome‐positive mixed phenotype acute leukemia (Ph+MPAL), particularly in elderly patients with comorbidities.
Yusuke Okayama, Teruhito Takakuwa, Ippei Otomaru, Mirei Horiuchi, Akiko Miura, Taku Araki, Yotaro Fujitani, Ryosuke Yamamura   +7 more
doaj   +1 more source

A Case of Philadelphia Chromosome Positive Myeloproliferative Neoplasm in a Pregnant Woman with Unusual Primary Myelofibrosis Features

Case Reports in Hematology, 2013
Myeloproliferative neoplasms (MPNs) are traditionally separated into BCR-ABL-positive chronic myeloid leukemia (CML), and BCR-ABL-negative MPNs including primary myelofibrosis (PMF), essential thrombocythemia (ET), and so forth.
Jason Koshy, Jack Alperin, Bagi Jana, Avi Markowitz, You-Wen Qian   +4 more
doaj   +1 more source

A unique three-way Philadelphia chromosome variant t(4;9;22)(q21;q34;q11.2) in a newly diagnosed patient with chronic phase chronic myeloid leukemia: a case report and review of the literature

Journal of Medical Case Reports, 2021
Background Chronic myeloid leukemia is a hematologic malignancy associated with the fusion of two genes: BCR and ABL1. This fusion results from a translocation between chromosomes 9 and 22, which is called the Philadelphia chromosome.
Yuka Torii, Kana Nanjo, Tomomi Toubai, Masashi Hosokawa, Ryo Sato, Akane Yamada, Keiko Aizawa, Masahito Himuro, Satoshi Ito, Masakazu Yamamoto, John Magenau, Ryan Wilcox, Kenichi Ishizawa   +12 more
doaj   +1 more source

Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing

Life, 2021
Chronic myeloproliferative neoplasms (MPNs) are hematopoietic stem cell neoplasms with driver events including the BCR-ABL1 translocation leading to a diagnosis of chronic myeloid leukemia (CML), or somatic mutations in JAK2, CALR, or MPL resulting in ...
Arti Easwar, Alexa J. Siddon
doaj   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, EarlyView.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

The Non‐Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting HSD17B12 Expression and Lipid Metabolism

Advanced Science, EarlyView.
The SNP rs2863002 at the 11p11.2 locus, identified through GWAS, is associated with an increased risk of neuroblastoma. The rs2863002‐C allele impairs the binding of the transcription factor GATA3, resulting in upregulation of the HSD17B12 gene.
Teresa Maiorino, Marianna Avitabile, Vincenzo Aievola, Annalaura Montella, Vito A. Lasorsa, Ferdinando Bonfiglio, Mariagrazia Cantalupo, Sueva Cantalupo, Gilda Estinto, Matilde Tirelli, Martina Morini, Martina Ardito, Alessandra Eva, Vincenza Cerbone, Lucia Mauriello, Marianna Caterino, Margherita Ruoppolo, John M. Maris, Sharon J. Diskin, Achille Iolascon, Mario Capasso   +20 more
wiley   +1 more source

Autologous transplantation for Philadelphia chromosome-positive acute lymphoblastic leukemia achieves outcomes similar to allogeneic transplantation: results of CALGB Study 10001 (Alliance)

Haematologica, 2014
Allogeneic stem cell transplantation is the standard approach to Philadelphia chromosome positive acute lymphoblastic leukemia. We hypothesized that imatinib plus sequential chemotherapy will result in significant leukemia cell cytoreduction in patients ...
Meir Wetzler, Dorothy Watson, Wendy Stock, Gregory Koval, Flora A. Mulkey, Eva E. Hoke, John M. McCarty, William G. Blum, Bayard L. Powell, Guido Marcucci, Clara D. Bloomfield, Charles A. Linker, Richard A. Larson   +12 more
doaj   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source