open access

Vol 52, No 2 (2021)
Original research article
Submitted: 2021-03-21
Accepted: 2021-03-21
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Results of Polish Adult Leukemia Study Group (PALG) project assessing TP53 mutations with next-generation sequencing technology in relapsed and refractory chronic lymphocytic leukemia patients — an 18-month update

Monika Pepek, Bartosz Pula, Marcin M. Machnicki, Elzbieta Morawiec-Szymonik, Alina Urbanowicz, Iwona Sokolowska-Giezgala, Zofia Spyra-Gorny, Agnieszka Szeremet, Dariusz Kumorek, Ryszard Wichary, Dorota Zdunczyk, Ewa Bodzenta, Kamila Kruczkowska-Tarantowicz, Katarzyna Warzybok, Magdalena Olszewska-Szopa, Jolanta Wieczorek, Marek Dudzinski, Waldemar Tomczak, Dominika Wisniewska-Organek, Pawel Bernatowicz, Anna Labedz, Malgorzata Rydzanicz, Agnieszka Pollak, Rafal Ploski, Tomasz Stoklosa, Krzysztof Jamroziak
DOI: 10.5603/AHP.2021.0015
·
Acta Haematol Pol 2021;52(2):94-102.

open access

Vol 52, No 2 (2021)
ORIGINAL RESEARCH ARTICLE
Submitted: 2021-03-21
Accepted: 2021-03-21

Abstract

Indtroduction and methods: In chronic lymphocytic leukemia (CLL), molecular and cytogenetic diagnostics are crucial for the determination of accurate prognosis and treatment choice. Among different genetic aberrations, del(17p13) or TP53 mutations constitute high-risk factors, and early identification of such defects is a high priority for CLL patients. While cytogenetic diagnostics is well-established and accessible for the majority of CLL patients in Poland, molecular diagnostics of TP53 mutations is performed only in a few ERIC-certified centers (eight as of September 2020), and only two of these employ next-generation sequencing (NGS) for routine analysis of TP53 status in CLL patients. Here we report the interim results of a project assessing TP53 mutations with NGS technology in relapsed or refractory CLL patients with confirmed negative del(17p13) status. 249 patients from 32 clinical centers were included in the study. Results: NGS analysis revealed TP53 mutations in 42/249 (17%) patients, half of whom (21/249, 8.5%) had subclonal mutations (VAF ≤10%). These results are in line with published data in relapsed/refractory CLL patients. Conclusions: The results of the project demonstrated the feasibility and accuracy of NGS testing in CLL patients despite several initial logistical and technical obstacles. Our study also proved that, with appropriate funding, CLL patients from any hematological center in Poland can have access to state-of-the-art molecular diagnostics

Abstract

Indtroduction and methods: In chronic lymphocytic leukemia (CLL), molecular and cytogenetic diagnostics are crucial for the determination of accurate prognosis and treatment choice. Among different genetic aberrations, del(17p13) or TP53 mutations constitute high-risk factors, and early identification of such defects is a high priority for CLL patients. While cytogenetic diagnostics is well-established and accessible for the majority of CLL patients in Poland, molecular diagnostics of TP53 mutations is performed only in a few ERIC-certified centers (eight as of September 2020), and only two of these employ next-generation sequencing (NGS) for routine analysis of TP53 status in CLL patients. Here we report the interim results of a project assessing TP53 mutations with NGS technology in relapsed or refractory CLL patients with confirmed negative del(17p13) status. 249 patients from 32 clinical centers were included in the study. Results: NGS analysis revealed TP53 mutations in 42/249 (17%) patients, half of whom (21/249, 8.5%) had subclonal mutations (VAF ≤10%). These results are in line with published data in relapsed/refractory CLL patients. Conclusions: The results of the project demonstrated the feasibility and accuracy of NGS testing in CLL patients despite several initial logistical and technical obstacles. Our study also proved that, with appropriate funding, CLL patients from any hematological center in Poland can have access to state-of-the-art molecular diagnostics

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Keywords

chronic lymphocytic leukemia, TP53 mutations, next-generation sequencing, targeted sequencing

About this article
Title

Results of Polish Adult Leukemia Study Group (PALG) project assessing TP53 mutations with next-generation sequencing technology in relapsed and refractory chronic lymphocytic leukemia patients — an 18-month update

Journal

Acta Haematologica Polonica

Issue

Vol 52, No 2 (2021)

Article type

Original research article

Pages

94-102

DOI

10.5603/AHP.2021.0015

Bibliographic record

Acta Haematol Pol 2021;52(2):94-102.

Keywords

chronic lymphocytic leukemia
TP53 mutations
next-generation sequencing
targeted sequencing

Authors

Monika Pepek
Bartosz Pula
Marcin M. Machnicki
Elzbieta Morawiec-Szymonik
Alina Urbanowicz
Iwona Sokolowska-Giezgala
Zofia Spyra-Gorny
Agnieszka Szeremet
Dariusz Kumorek
Ryszard Wichary
Dorota Zdunczyk
Ewa Bodzenta
Kamila Kruczkowska-Tarantowicz
Katarzyna Warzybok
Magdalena Olszewska-Szopa
Jolanta Wieczorek
Marek Dudzinski
Waldemar Tomczak
Dominika Wisniewska-Organek
Pawel Bernatowicz
Anna Labedz
Malgorzata Rydzanicz
Agnieszka Pollak
Rafal Ploski
Tomasz Stoklosa
Krzysztof Jamroziak

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