TY - JOUR
T1 - Relevance of TP53 for CLL diagnostics
AU - Catherwood, Mark A.
AU - Gonzalez, David
AU - Donaldson, David
AU - Clifford, Ruth
AU - Mills, Ken
AU - Thornton, Patrick
N1 - Publisher Copyright:
© Author(s) (or their employer(s)) 2019.
PY - 2019/2/2
Y1 - 2019/2/2
N2 - TP53 disruption in chronic lymphocytic leukaemia (CLL) is a well-established prognostic marker and informs on the appropriate course of treatment for patients. TP53 status is commonly assessed by fluorescence in situ hybridisation for del(17 p) and Sanger sequencing for TP53 mutations. At present, current screening methods for TP53 mutations fail to detect diagnostically relevant mutations potentially leading to inappropriate treatment decisions. In addition, low levels of mutations that are proving to be clinically relevant may not be discovered with current less sensitive techniques. This review describes the structure, function and regulation of the TP53 protein, the mutations found in cancer and CLL, the relevance of TP53 disruption in CLL and the current screening methods for TP53 mutations including next-generation sequencing.
AB - TP53 disruption in chronic lymphocytic leukaemia (CLL) is a well-established prognostic marker and informs on the appropriate course of treatment for patients. TP53 status is commonly assessed by fluorescence in situ hybridisation for del(17 p) and Sanger sequencing for TP53 mutations. At present, current screening methods for TP53 mutations fail to detect diagnostically relevant mutations potentially leading to inappropriate treatment decisions. In addition, low levels of mutations that are proving to be clinically relevant may not be discovered with current less sensitive techniques. This review describes the structure, function and regulation of the TP53 protein, the mutations found in cancer and CLL, the relevance of TP53 disruption in CLL and the current screening methods for TP53 mutations including next-generation sequencing.
UR - http://www.scopus.com/inward/record.url?scp=85061087833&partnerID=8YFLogxK
U2 - 10.1136/jclinpath-2018-205622
DO - 10.1136/jclinpath-2018-205622
M3 - Article
C2 - 30712002
AN - SCOPUS:85061087833
SN - 0021-9746
VL - 72
SP - 343
EP - 346
JO - Journal of Clinical Pathology
JF - Journal of Clinical Pathology
IS - 5
ER -