Quelles sont les pratiques en génétique des pédiatres onco-hématologues de la SFCE ? Une enquête du groupe socle éthique CONECT-AML

Guilmatre, Audrey; Davous, Dominique; Sigy, Amélie de Haut de; Asselain, Bernard; Chevret, Sylvie; Petit, Arnaud

doi:10.1016/j.bulcan.2022.07.001

Cited by 3 publications

(2 citation statements)

References 26 publications

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“…Parents and children should be able to express their perspectives on being informed about various types of results, including those relevant for their cancer, those that may be linked to their cancer, as well as medically actionable incidental findings. It is also important that healthcare professionals and researchers appropriately interpret significance of findings reported in studies and their possible limitations to appropriately translate knowledge in clinical practice 52–54 …”

Section: Discussionmentioning

confidence: 99%

“…It is also important that healthcare professionals and researchers appropriately interpret significance of findings reported in studies and their possible limitations to appropriately translate knowledge in clinical practice. [52][53][54] Of note, three patients with FP-ARMS had germline P/LP RET variants, two of whom had moderate-to high-risk RET variants and phenotypes compatible with MEN2. 28,33,37 Crawford et al, reporting on one of these patients (RET p.C634F), conducted functional analyses allowing them to hypothesize that the germline RET variant was not biologically relevant in this patient.…”

Section: Nb Patients With Arms and Fusion Positivementioning

confidence: 99%

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A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion‐positive rhabdomyosarcoma

Freycon,

Lupo,

Witkowski

et al. 2023

Pediatric Blood & Cancer

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Several cancer predisposition syndromes (CPS) are reported to predispose to rhabdomyosarcoma, most frequently in children with embryonal rhabdomyosarcoma. There are lingering questions over the role of CPS in individuals with alveolar rhabdomyosarcoma (ARMS), which are frequently driven by FOXO1 fusion oncoproteins. We conducted a systematic review to identify patients with FOXO1 fusion‐positive ARMS (FP‐ARMS) who underwent germline DNA sequencing. We estimated the prevalence of pathogenic/likely pathogenic (P/LP) variants in cancer predisposing genes (CPGs) and of CPSs. We included 19 publications reporting on 191 patients with FP‐ARMS. P/LP variants in CPGs were identified in 26/191 (13.6%) patients, nine (4.9%) of which were associated with a CPS diagnosis. Evidence for causal associations between CPSs and FP‐ARMS could not be assessed with available data from this review. Only one patient was affected with a CPS known to predispose to rhabdomyosarcoma, Li–Fraumeni syndrome. Typical CPS associations with rhabdomyosarcoma are rare, but not nonexistent, in patients with FP‐ARMS. FOXO1 fusion status, alone, is insufficient for clinicians to rely on to distinguish between patients with/without CPS.

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Section: Discussionmentioning

confidence: 99%