Results 81 to 90 of about 30,070 (260)

From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort

British Journal of Haematology, EarlyView.
Targeted next‐generation sequencing combined with a structured interpretative framework integrating gene–disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying ...
Alessandra Giannella, Fabrizio Vianello, Simone Zoletto, Arianna Magrini, Ilaria Gianesello, Gianni Binotto, Nicolo’ Danesin, Jessica Ceccato, Giulia Gualtiero, Maria Piazza, Samuela Carraro, Valeria Carabotta, Francesco Cinetto, Alessandro Cellini, Marco Carraro, Carmela Gurrieri, Laura Pavan, Francesco Piazza, Andrea Visentin, Walter Ageno, Livio Trentin, Giulio Ceolotto   +21 more
wiley   +1 more source

Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation

, 2023
Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are not a single disease, but rather a heterogenous group of entities which are increasingly subclassified according to recurrent genetic abnormalities.
Albertina Nunes, Isabelina Ferreira, Tiago Maia, Joana Desterro, Francesca Pierdomenico, Maria Gomes da Silva, José Cabeçadas, Ana Carolina Freitas   +7 more
core   +1 more source

Population‐Based Identification of Clonal Hematopoiesis Using Peripheral Blood Whole‐Genome Sequencing in Japan

Cancer Science, EarlyView.
Whole‐genome sequencing of ~50,000 individuals from the Tohoku Medical Megabank (TMM) cohort defines the prevalence, mutational landscape, and age dependency of clonal hematopoiesis in the Japanese population, demonstrating overall concordance with clonal hematopoiesis detected in cancer patients.
SungGi Chi, Ikuko N. Motoike, Takao Fujisawa, Yumi Yamaguchi‐Kabata, Takahiro Nobukuni, Kengo Kinoshita, Yoshiaki Nakamura, Hideaki Bando, Takayuki Yoshino, Kinuko Ohneda, Katsuya Tsuchihara, Yosuke Minami, Riu Yamashita   +12 more
wiley   +1 more source

The molecular pathogenesis of myeloproliferative neoplasms

, 2010
Myeloproliferative neoplasms (MPNs) are a heterogeneous group of haematological stem cellmalignancies characterised by proliferation of one or more cells of the myeloid lineage.
Jones, Amy Victoria
core  

A Rare Case of Cutaneous Extramedullary Hematopoiesis in Chronic Myeloid Leukemia

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous extramedullary hematopoiesis (CEH) is a rare manifestation of extramedullary hematopoiesis (EMH), a process typically associated with fetal development or myeloproliferative neoplasms. EMH most commonly involves the spleen, liver, and lymph nodes, with CEH being exceedingly rare in chronic myeloid leukemia (CML).
Bennett Christie‐Nguyen, Hanadi El Achi, Levani Iashvili, Amer Wahed, Brenda Mai, Jacob Armstrong   +5 more
wiley   +1 more source

Cerebral salt wasting in a patient with myeloproliferative neoplasm

BMC Neurology, 2019
Background Cerebral salt wasting (CSW) is a rare metabolic disorder with severe hyponatremia and volume depletion usually caused by brain injury like trauma, cerebral lesion, tumor or a cerebral hematoma.
Lea Orlik, Reto Venzin, Thomas Fehr, Karin Hohloch   +3 more
doaj   +1 more source

Plasma Elastase Screening in Hematological Disease Reveals Its Potential as a Diagnostic and Prognostic Biomarker in Hematological Malignancies

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Neutrophil‐extracellular traps are net‐like material released by triggered neutrophils and composed of decondensed chromatin linked to nuclear proteins. Elastase, one of the fourth most represented neutrophil‐specific serine proteases stored in azurophil granules of naïve neutrophils, exerts various actions, including degradation ...
Pasqualina Scala, Anna Maria Della Corte, Angela Bertolini, Marisa Gorrese, Francesca Picone, Bianca Serio, Danilo De Novellis, Laura Mettivier, Luca Pezzullo, Maria Carmen Martorelli, Denise Morini, Matteo D'Addona, Bianca Cuffa, Carmine Selleri, Valentina Giudice   +14 more
wiley   +1 more source

Assessment of the Performance of Siemens Scopio Digital Morphology on Bone Marrow Aspirates in Onco‐Hematology

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Objectives Digital morphology (DM) systems assisted by artificial intelligence are increasingly being introduced into hematology laboratories; however, data on their performance in routine clinical practice for bone marrow aspirates (BMA) remain limited.
Gina Zini, John Marra, Elena Rossi, Silvia Bellesi, Nicoletta Pelliccioni, Giuseppe d'Onofrio, Patrizia Chiusolo   +6 more
wiley   +1 more source

Immunophenotypic, Genetic, and Clinical Features Associated With RUNX1 Mutation in Acute Leukemias and Chronic Myeloid Neoplasms

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction RUNX1 is a commonly mutated transcriptional regulator of hematopoiesis in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Mutated RUNX1 (mRUNX1) may associate with cross‐lineage immunophenotypic aberrancy, presenting potential complications for blast lineage assignment at diagnosis. Methods Clinical and laboratory
Yi Han Xia, Eric McGinnis
wiley   +1 more source

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. Methods In
Ayse Gul Bayrak Tokac, Aynur Aday, Simge Erdem, Gulcin Bagatir, Burak Don, Ozden Ozcan, Akif Selim Yavuz, Sevgi Kalayoglu Besisik, Meliha Nalcaci, Kivanc Cefle, Sukru Ozturk   +10 more
wiley   +1 more source