Top

Published in:

02-06-2021 | Acute Myeloid Leukemia | Short Communication

Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome

Authors: Leatrisse Oba, Ana F. Best, Phuong L. Mai, Maria Isabel Achatz, Paul S. Albert, Sharon A. Savage, Payal P. Khincha

Published in: Familial Cancer | Issue 3/2022

Abstract

Comprehensive annual screening reduces cancer-related mortality in Li-Fraumeni syndrome (LFS), a cancer-prone disorder caused by pathogenic germline TP53 variants. Blood tests at months 4 and 8 between annual screening are recommended but their effectiveness in early cancer detection has not been established. Interim blood counts and inflammatory biomarkers were evaluated in 132 individuals with LFS (112 adults, 87 female, median age 36 years [range 3–68], median follow-up 37 months [range 2–70]) and test abnormalities were observed in 225 (35%). Thirteen cancers in 12 individuals were diagnosed between annual screenings but only one cancer (colorectal adenocarcinoma) was diagnosed due to an abnormal interim blood test. Fisher’s exact test and generalized estimating equation models found no statistical associations between cancer diagnoses and any test abnormality. Four- and 8-monthly interim screening blood tests may not be of independent benefit for cancer detection in LFS, but annual cancer screening and personalized follow-up remain essential.

Available only for authorised users

Mai PL, Best AF, Peters JA et al (2016) Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer 122(23):3673–3681. https://doi.org/10.1002/cncr.30248CrossRefPubMed

Amadou A, Waddington Achatz MI, Hainaut P (2018) Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. Curr Opin Oncol 30(1):23–29. https://doi.org/10.1097/CCO.0000000000000423CrossRefPubMed

Bougeard G, Renaux-Petel M, Flaman JM et al (2015) Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol 33(21):2345–2352. https://doi.org/10.1200/JCO.2014.59.5728CrossRefPubMed

Porter CC, Druley TE, Erez A et al (2017) Recommendations for surveillance for children with leukemia-predisposing conditions. Clin Cancer Res 23(11):e14–e22. https://doi.org/10.1158/1078-0432.CCR-17-0428CrossRefPubMed

Kratz CP, Achatz MI, Brugieres L et al (2017) Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res 23(11):e38–e45. https://doi.org/10.1158/1078-0432.CCR-17-0408CrossRefPubMed

Villani A, Shore A, Wasserman JD et al (2016) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol 17(9):1295–1305. https://doi.org/10.1016/S1470-2045(16)30249-2CrossRefPubMed

Ballinger ML, Best A, Mai PL et al (2017) Baseline surveillance in Li-Fraumeni syndrome using whole-body magnetic resonance imaging: a meta-analysis. JAMA Oncol 3(12):1634–1639. https://doi.org/10.1001/jamaoncol.2017.1968CrossRefPubMed

Young JL, Pantaleao A, Zaspel L et al (2019) Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: connection versus independence. J Psychosoc Oncol 37(2):178–193. https://doi.org/10.1080/07347332.2018.1543376CrossRefPubMed

Ross J, Bojadzieva J, Peterson S et al (2017) The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. Genet Med 19(9):1064–1070. https://doi.org/10.1038/gim.2017.8CrossRefPubMedPubMedCentral

10.

Hanson H, Brady AF, Crawford G et al (2020) UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants. J Med Genet. https://doi.org/10.1136/jmedgenet-2020-106876CrossRefPubMed

11.

Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG, European Reference Network G (2020) Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes. Eur J Hum Genet 28(10):1379–1386. https://doi.org/10.1038/s41431-020-0638-4CrossRefPubMedPubMedCentral

12.

Mai PL, Khincha PP, Loud JT et al (2017) Prevalence of cancer at baseline screening in the National Cancer Institute Li-Fraumeni Syndrome cohort. JAMA Oncol 3(12):1640–1645. https://doi.org/10.1001/jamaoncol.2017.1350CrossRefPubMedPubMedCentral

13.

R Core Team (2018) R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. Available online at https://www.R-project.org/

Title: Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome
Authors: Leatrisse Oba
Ana F. Best
Phuong L. Mai
Maria Isabel Achatz
Paul S. Albert
Sharon A. Savage
Payal P. Khincha
Publication date: 02-06-2021
Publisher: Springer Netherlands
Keywords: Acute Myeloid Leukemia
Adrenocortical Carcinoma
Published in: Familial Cancer / Issue 3/2022
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-021-00265-x

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras

Prof. Fabrice Barlesi

Developed by: Springer Medicine

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2022

Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening

A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel

Correction to: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations

Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome

Outcomes of retesting in patients with previously uninformative cancer genetics evaluations

Keynote webinar | Spotlight on antibody–drug conjugates in cancer