Study Finds Patients with Li-Fraumeni Syndrome Need Counseling, Surveillance Programs


A survey of patients in Germany found that this patient population needs efficient counseling, as well as a standardized surveillance program to help increase adherence and psychological coping.

A multicenter feasibility and acceptance survey conducted in Germany found that patients with Li-Fraumeni syndrome (LFS) need efficient counseling, as well as an accessible, well-organized, interdisciplinary, standardized surveillance program to help increase adherence and psychological coping.

LFS is a high-risk cancer predisposition syndrome caused by pathogenic germline variants of TP53, and cancer surveillance has already demonstrated a significant survival advantage in those with the syndrome. However, little is currently known about the feasibility, acceptance, and psychosocial effects of such a program.

“Our results support the need for optimization of the current surveillance system in Germany for individuals with LFS to facilitate adherence,” the authors wrote. “Counseling influences adherent behavior; therefore, a clearly structured plan is desirable not only for individuals with LFS but also for health care providers to get the most recent information about this rare disease.”

Carriers of the pathogenic TP53 germline variant completed a 7-part questionnaire evaluating sociodemographics, cancer history, surveillance participation, reasons for nonadherence, worries, and distress adapted from the Cancer Worry Scale. Overall, 49 participants (46 females and 3 males) formed the study population. Notably, 43 (88%) individuals participated in surveillance during the study or formerly.

Ultimately, researchers found that willingness to undergo surveillance was affected by satisfaction with genetic testing and counseling (P = 0.019 [Fisher-Yates test]), but not by sociodemographics, cancer history, or distress level. Interestingly, the study did not identify logistical problems and insurance status as factors which significantly influenced adherence.

However, almost one-third of the participants described logistical complications in implementing surveillance because of the high frequency of medical visits, scheduling issues, and the travel distance to their surveillance providers. Even further, self-reported distress and perceived emotional burden for family members and partners were moderate (median for self-reported distress, 3.3; median for perceived emotional burden, 3.0). For both, the interquartile range was moderate to very high (2.7-3.7 and 3.0-3.7, respectively).

“The frequent appointments, requiring self-initiation and often scheduled at tertiary care centers far from the patients’ homes, cause a burden that could potentially be prevented through, for example, the introduction of modern technologies such as cell phone applications that monitor and summarize surveillance appointments, updates, and recommendations,” the authors wrote. “Standard interventions such as blood tests and coloscopies could be performed by local centers, whereas other measures requiring more LFS-specific expertise (e.g., WB-MRI) could be offered by specialized cancer predisposition centers conducting translational research.”

Notably, this study was limited by a self-selection bias of participating TP53 germline variant carriers. Additionally, the small sample size, differing time points for cancer, genetic testing, and surveillance were identified as limitations to the study and statistical analyses.

“Despite these limitations, our results support the need for and acceptance of a well-structured, interdisciplinary program for adult TP53 germline variant carriers,” the authors wrote. “Ongoing, studies are aimed at developing ‘individual-risk-adapted’ surveillance programs and studying the associated psychosocial burden and needs as well as further translational aspects of LFS.”


Rippinger N, Fischer C, Haun MW, et al. Cancer Surveillance and Distress Among Adult Pathogenic TP53 Germline Variant Carriers in Germany: A Multicenter Feasibility and Acceptance Survey. Cancer. doi:10.1002/cncr.33004.

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