Comprehensive Cytogenomic Profiling of T-Lymphoblastic Leukemia Using Optical Genome Mapping, Karyotyping, and Next-Generation Sequencing.

doi:10.1016/j.modpat.2026.100986

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Article

Comprehensive Cytogenomic Profiling of T-Lymphoblastic Leukemia Using Optical Genome Mapping, Karyotyping, and Next-Generation Sequencing.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 May 2026

Tang Guilin, Reynolds Alexandra, Ravandi-Kashani Farhad, Medeiros L Jeffrey, Kornblau Steven M, Jabbour Elias J, Jain Nitin, Short Nicholas J, Hu Shimin, Wei Qing, Loghavi Sanam, Ok Chi Y, Toruner Gokce, Ling Jianhua, Liang Sichen, Verma Tanvi, Zou Ying S, Wang Sa A

Abstract excerpt

In this study, we used optical genome mapping (OGM), conventional karyotyping, and next-generation sequencing to analyze cytogenomic alterations in 91 cases of T-cell acute lymphoblastic leukemia/lymphoma (T-ALL). Whereas karyotyping detected abnormal karyotypes in 55% of cases, OGM identified cytogenetic abnormalities in 97.8% of the cases and provided clinically relevant information beyond karyotyping in ∼70%...

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Identifiers

PMID: 41796805
DOI: 10.1016/j.modpat.2026.100986

Genes

ABL1
BCL11B
DNMT3A
FLT3
IDH2
KMT2A
MLLT10
NOTCH1
NUP214
PICALM
STIL
TAL1
TET2
TLX1
WT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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