P681: Discrepant TP53 copy number results in molecular and cytogenetic testing for hematologic malignancies

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Authors: Laura Magill Sack, Habibe Kurt, Valentina Nardi, Paola Dal Cin
Cited by: 0

Abstract

TP53 is an essential tumor suppressor gene altered in virtually all types of malignancies. Accurate assessment of TP53 alteration status is a critical component of a laboratory genetics workup for hematologic malignancies, as this biomarker can impact prognosis and treatment. TP53 is subject to sequence mutations, copy number alterations and chromosomal rearrangements, requiring a variety of cytogenetic and molecular assays for accurate detection. An emerging challenge in laboratory diagnostics is how to resolve discrepancies in TP53 copy number (CN) status across complementary techniques.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Cancer-related Molecular Pathways Cancer Genomics and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104171–104171
Publication date
1 January 2026
Language
EN