TY - JOUR
T1 - The role of cancer predisposition syndrome in children and adolescents with very rare tumours
AU - Orbach, Daniel
AU - Brecht, Ines B.
AU - Corradini, Nadege
AU - Bouchoucha, Yassine
AU - Roganovic, Jelena
AU - Bourdeaut, Franck
AU - Reguerre, Yves
AU - Kuiper, Roland
AU - Bressac-de Paillerets, Brigitte
AU - Ferrari, Andrea
AU - Vigone, Calogero
AU - Godzinski, Jan
AU - Bisogno, Gianni
AU - Guerrini-Rousseau, Lea
AU - Jorge Farinha, Nuno
AU - Bergamaschi, Luca
AU - Bien, Ewa
AU - Kuhlen, Michaela
AU - Schneider, Dominik T.
AU - Ben-Ami, Tal
PY - 2023/12
Y1 - 2023/12
N2 - Germline predisposing pathogenic variants (GPVs) are present in approximately 8–10 % of children with all cancer types. Very rare tumours (VRTs) represent many different diseases, defined with an annual incidence < 2 / 1,000,000, and correspond to 11 % of all cancers in patients aged 0–14 years. Some of these VRTs, including cancer typical for adults, develop in children with a cancer predisposition syndrome (CPS). Classically, three situations lead to consider this association: Some patients develop a VRT for which histology itself strongly suggests a GPV related to a CPS; others are referred for germline genetic testing because of a family or personal history and finally, a systematic molecular genomic tumour analysis, reveals a PV typical to a CPS. Depending on the samples tested and type of analysis performed, information can be directly available about the germline status of such a PV. Depicting the association between CPS and VRT is clinically important as some of these tumour types require adapted therapy, sometimes in the frontline setting, and the proposal of a specific surveillance programme to detect other malignancies. The diagnosis of CPS necessitates a careful familial evaluation and genetic counselling regarding the risks faced by the child or other family members. The aim of this paper is to propose a literature review of solid VRTs occurring in paediatric and young adult patients associated with CPSs.
AB - Germline predisposing pathogenic variants (GPVs) are present in approximately 8–10 % of children with all cancer types. Very rare tumours (VRTs) represent many different diseases, defined with an annual incidence < 2 / 1,000,000, and correspond to 11 % of all cancers in patients aged 0–14 years. Some of these VRTs, including cancer typical for adults, develop in children with a cancer predisposition syndrome (CPS). Classically, three situations lead to consider this association: Some patients develop a VRT for which histology itself strongly suggests a GPV related to a CPS; others are referred for germline genetic testing because of a family or personal history and finally, a systematic molecular genomic tumour analysis, reveals a PV typical to a CPS. Depending on the samples tested and type of analysis performed, information can be directly available about the germline status of such a PV. Depicting the association between CPS and VRT is clinically important as some of these tumour types require adapted therapy, sometimes in the frontline setting, and the proposal of a specific surveillance programme to detect other malignancies. The diagnosis of CPS necessitates a careful familial evaluation and genetic counselling regarding the risks faced by the child or other family members. The aim of this paper is to propose a literature review of solid VRTs occurring in paediatric and young adult patients associated with CPSs.
U2 - 10.1016/j.ejcped.2023.100023
DO - 10.1016/j.ejcped.2023.100023
M3 - Article
VL - 2
SP - 100023
JO - European Journal of Cancer Pediatric Oncology
JF - European Journal of Cancer Pediatric Oncology
ER -