Evidence map›Paper›PMID 30028819›Full record

ArticleJournal of pediatric hematology/oncology2019

Cryptic ETV6-ABL1 Fusion and MLL2 Truncation Revealed by Integrative Clinical Sequencing in Multiply Relapsed Acute Lymphoblastic Leukemia.

Nikhil P Mankuzhy, Emily Walling, Bailey Anderson, Rajen Mody

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatric hematology/oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.9field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 6 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Nikhil P MankuzhyDepartment of Pediatrics.
Emily WallingDepartment of Pediatrics.
Bailey AndersonDepartment of Pediatrics.
Rajen ModyDepartment of Pediatrics.
Comprehensive Blood & Cancer Center · US

Funding

Sequencing, Analysis, and Interpretation of SequencingUM1HG006508 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI CHINNAIYAN, ARUL M, PIENTA, KENNETH J. · 2013 to 2016
$7.8M
NHGRI NIH HHS UM1 HG006508
6 · The paper itself

Abstract

The ETV6-ABL1 fusion is a rare genetic aberration classified as Philadelphia chromosome-like high-risk B-cell precursor acute lymphoblastic leukemia. We present the case of a child with multiply relapsed B-cell precursor acute lymphoblastic leukemia in which next-generation sequencing identified this cryptic fusion, undetected by standard testing, resulting in sustained clinical response to targetted therapy with imatinib. Upon subsequent relapse, repeat next-generation sequencing identified an additional aberration, MLL2-ADCY9, as a possible molecular driver conferring resistance to therapy. This report demonstrates the exciting potential of integrative clinical sequencing in identifying previously undetected actionable findings leading to improved outcomes in pediatric oncology patients.

Indexed as

Sequence Analysis, DNATranslocation, GeneticChild, PreschoolCore Binding Factor Alpha 2 SubunitDNA-Binding ProteinsETS Translocation Variant 6 ProteinFemaleHumansNeoplasm ProteinsOncogene Proteins, FusionPrecursor Cell Lymphoblastic Leukemia-LymphomaCore Binding Factor Alpha 2 SubunitDNA-Binding ProteinsETS Translocation Variant 6 ProteinKMT2D protein, humanNeoplasm ProteinsOncogene Proteins, FusionTEL-AML1 fusion protein

Identifiers

PMID30028819
PMCPMC6339603
OpenAlexW2884053337

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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 OpenQuestion graph.