Recognition of Philadelphia chromosome‐like acute lymphoblastic leukemia as part of routine diagnostic work‐up

Introduction Philadelphia chromosome (Ph)‐like acute lymphoblastic leukemia (ALL) is a biologically and clinically challenging subtype of B‐cell ALL which has been incorporated into the 2016 revision of the World Health classification of acute leukemia. It is independently associated with poor outco...

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Bibliographic Details
Published in:International journal of laboratory hematology 2022-02, Vol.44 (1), p.142-149
Main Authors: Podgornik, Helena, Doplihar Kebe, Ana, Klun, Jurka, Reberšek, Katarina, Šućurović, Sandra, Škerget, Matevž, Zver, Samo
Format: Article
Language:English
Subjects:
Acute lymphoblastic leukemia
Adult
Biomarkers, Tumor
Chromosomes
Clinical Decision-Making
CRLF2 rearrangement
Cytogenetic Analysis
Cytogenetics
Disease Management
FISH
Gene Rearrangement
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Immunohistochemistry
Immunophenotyping
In Situ Hybridization, Fluorescence
Karyotyping
Leukemia
Lymphatic leukemia
Middle Aged
NGS
Philadelphia Chromosome
Ph‐like ALL
Precursor Cell Lymphoblastic Leukemia-Lymphoma - diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma - metabolism
Retrospective Studies
Young Adult
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Summary:Introduction Philadelphia chromosome (Ph)‐like acute lymphoblastic leukemia (ALL) is a biologically and clinically challenging subtype of B‐cell ALL which has been incorporated into the 2016 revision of the World Health classification of acute leukemia. It is independently associated with poor outcome. As it can only be reliably detected by expression profiling, it is difficult to diagnose with routine methods. Its recognition has become of greater importance due to prognostication and even more due to the new diagnostic options given by targeted therapies. There is still no standardized diagnostic test enabling its prompt recognition. Here, we introduce our approach how to detect it by combination of widely available techniques. Methods 179 ALL patients diagnosed in our center during the last 8 years were included. Data on immunophenotype and cytogenetics were used to select patients with potentially Ph‐like ALL (65/179). CRLF2 gene rearrangement (CRLF2‐r) was tested by FISH in 59/65 patients, and next‐generation sequencing was done by Archer FusionPlex ALL kit in 34 patients. TSLPR expression was determined in 20 patients. Results Philadelphia chromosome‐like aberrations were confirmed in 9 patients. In 10% of tested samples, CRLF2‐r was confirmed. Due to a lack of material, NGS was done only in a half of potentially Ph‐like cases. In 10%, other Ph‐like fusions were found by NGS. Conclusions The obtained frequencies, and genetic and patients' characteristics are in concordance with the literature data, ensuring a reliable detection of this challenging ALL subtype. The proposed algorithm allows detection of Ph‐like ALL at reasonable cost and acceptable workload.
ISSN:1751-5521
1751-553X
DOI:10.1111/ijlh.13698