Feasibility of optical genome mapping in cytogenetic diagnostics of hematological neoplasms: a new way to look at DNA

N Coccaro, L Anelli, A Zagaria, F Tarantini, C Cumbo… - Diagnostics, 2023 - mdpi.com
Optical genome mapping (OGM) is a new genome-wide technology that can reveal both
structural genomic variations (SVs) and copy number variations (CNVs) in a single assay …

Guiding the global evolution of cytogenetic testing for hematologic malignancies

YMN Akkari, LB Baughn, AM Dubuc… - Blood, The Journal …, 2022 - ashpublications.org
Cytogenetics has long represented a critical component in the clinical evaluation of
hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot …

Optical genome mapping for structural variation analysis in hematologic malignancies

AC Smith, K Neveling… - American journal of …, 2022 - Wiley Online Library
Optical genome mapping (OGM) is a technology that is rapidly being adopted in clinical
genetics laboratories for its ability to detect structural variation (eg, translocations …

DUX Hunting—Clinical Features and Diagnostic Challenges Associated with DUX4-Rearranged Leukaemia

JA Rehn, MJ O'connor, DL White, DT Yeung - Cancers, 2020 - mdpi.com
Simple Summary DUX4-rearrangement (DUX4r) is a recently discovered recurrent genomic
lesion reported in 4–7% of childhood B cell acute lymphoblastic leukaemia (B-ALL) cases …

Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

A Koleilat, JB Smadbeck… - Genes …, 2022 - Wiley Online Library
Acute lymphoblastic leukemia (B‐ALL) with intrachromosomal amplification of chromosome
21 (iAMP21‐ALL) represents a recurrent high‐risk cytogenetic abnormality and accurate …

The PAX5‐JAK2 translocation acts as dual‐hit mutation that promotes aggressive B‐cell leukemia via nuclear STAT5 activation

S Jurado, AS Fedl, M Jaritz… - The EMBO …, 2022 - embopress.org
While PAX5 is an important tumor suppressor gene in B‐cell acute lymphoblastic leukemia
(B‐ALL), it is also involved in oncogenic translocations coding for diverse PAX5 fusion …

Clinicopathologic characteristics, genetic features, and treatment options for acute lymphoblastic leukemia with JAK2 rearrangement—A 10-case study and literature …

L Zhang, B Shah, Y Zhang, H Tashkandi, W Xiao… - Human Pathology, 2023 - Elsevier
Summary JAK2 rearrangement (JAK2-R) in acute lymphoblastic leukemia (ALL) is rare and
often categorized as B-ALL with BCR:: ABL1–like features based on the World Health …

Section E6. 1–6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired …

Y Akkari, LB Baughn, A Kim, E Karaca, G Raca… - Genetics in …, 2024 - Elsevier
Cytogenomic analyses of acquired clonal chromosomal abnormalities in neoplastic blood,
bone marrow, and/or lymph nodes are instrumental in the clinical management of patients …

Identification of STRBP as a Novel JAK2 Fusion Partner Gene in a Young Adult With Philadelphia Chromosome-Like B-Lymphoblastic Leukemia

XY Zhang, HP Dai, Z Li, J Yin, XP Lang… - Frontiers in …, 2021 - frontiersin.org
Philadelphia chromosome-like B-lymphoblastic leukemia (Ph-like ALL) describes a group of
genetically heterogeneous, Ph-negative entities with high relapse rates and poor …

Sustained remission after ruxolitinib and chimeric antigen receptor T-cell therapy bridged to a second allogeneic hematopoietic stem cell transplantation for relapsed …

X Chen, L Yuan, J Zhou, F Wang… - Genes …, 2022 - pubmed.ncbi.nlm.nih.gov
Sustained remission after ruxolitinib and chimeric antigen receptor T-cell therapy bridged to a
second allogeneic hematopoietic stem cell transplantation for relapsed Philadelphia …