Evidence map›Paper›PMID 42379270›Full record

ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2026

Immunophenotypic, Cytogenetic, and Molecular Characterization of NUP98-Rearranged Pediatric Myeloid Neoplasms.

Mahsa Khanlari, Wei Wang, Beenu Thakral, Branko Cuglievan, Ghayas C Issa, Patrick R Blackburn, Masayuki Umeda, Laura Key, Tamara Westover, Jing Ma and 2 more

Abstract read
In one paragraph

Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Mahsa KhanlariDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee. Electronic address: mahsa.khanlari@stjude.org.
Wei WangDepartment of Hematopathology, MD Anderson Cancer Center, Houston, Texas.
Beenu ThakralDepartment of Hematopathology, MD Anderson Cancer Center, Houston, Texas.
Branko CuglievanDepartment of Leukemia, MD Anderson Cancer Center, Houston, Texas.
Ghayas C IssaDepartment of Leukemia, MD Anderson Cancer Center, Houston, Texas.
Patrick R BlackburnDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Masayuki UmedaDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Laura KeyDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Tamara WestoverDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Jing MaDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Jeffrey E RubnitzDepartment of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Jeffery M KlcoDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee. Electronic address: jeffery.klco@stjude.org.

Funding

Project 4U54CA243124 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI MULLIGHAN, CHARLES G. · 2019 to 2023
$10.5M
NCI NIH HHS U54 CA243124
6 · The paper itself

Abstract

NUP98 rearrangements (NUP98r) are often cryptic and define a high-risk subgroup of pediatric myeloid neoplasms, predominantly acute myeloid leukemia (AML). Despite their clinical significance, the immunophenotypic signatures that enable early recognition of NUP98r remain incompletely characterized. We retrospectively studied 62 pediatric and young adult patients (aged ≤21 years at diagnosis) with NUP98-rearranged myeloid neoplasms diagnosed from 1994 to 2025. We integrated flow cytometry, morphology, cytogenetics, and molecular data and grouped cases based on fusion partner-NUP98::NSD1 (n = 35), NUP98::KDM5A (n = 12), and other NUP98 fusions (NUP98::X; n = 15)-and flow-defined differentiation patterns. NUP98::NSD1 accounted for 56% of cases and was found in older children, with a median age at diagnosis of 13.2 years. These cases displayed an immature myeloid phenotype, with frequent expression of CD34 (33/35; 94%), CD117 (31/35; 89%), HLA-DR (34/34; 100%), and uniform CD123 positivity in all evaluable cases (22/22; 100%), along with FLT3-ITD and WT1 alterations (22/34 each; 65%) and mostly diploid karyotypes (61%). NUP98::KDM5A occurred in younger children (median age at diagnosis, 1.9 years) and was associated with erythroid/megakaryocytic differentiation, including CD41/CD61 positivity in 8 of 10 (80%) and glycophorin A positivity in 3 of 9 (33%) evaluable cases. Chromosome 13 abnormalities and RB1 alterations were identified in 60% and 55% of evaluable cases, respectively, and complex karyotypes were present in 63% of cases. Other NUP98 fusions (NUP98::X; n = 15, 24%) showed diverse phenotypes and were enriched for 11p abnormalities (79% of evaluable NUP98::X cases). Most 11p abnormalities were evident on conventional cytogenetics when karyotype data were available, in contrast to NUP98::NSD1 and NUP98::KDM5A cases, which were often cytogenetically cryptic. In summary, the NUP98 fusion partner was associated with recurring, diagnostically useful immunophenotypic, cytogenetic, and molecular patterns. These patterns can facilitate prioritization of RNA-based fusion testing, anticipate partner-specific differentials, and design flow cytometry follow-up strategies.

Indexed as

immunophenotypingNUP98pediatric leukemiasequencing

Identifiers

PMID42379270
PMCPMC13401504

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.