Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas.

Soft tissue sarcomas (STS) may arise as a consequence of germline variants in cancer predisposition genes (CPGs). We believe that elucidating germline sarcoma predisposition is critical for understanding disease biology and therapeutic requirements. Participation in surveillance programs may allow for early tumor detection, early initiation of therapy and, ultimately, better outcomes. Among children, adolescents, and adults diagnosed with soft-tissue sarcomas and examined as part of published germline sequencing studies, pathogenic/likely pathogenic (P/LP) variants in CPGs were reported in 7-33% of patients. P/LP germline variants were detected most frequently in TP53, NF1 and BRCA1/2. In this review, we describe reported associations between soft tissue sarcomas and germline variants in CPGs, with mentioning of locally aggressive and benign soft tissue tumors that have important associations with cancer predisposition syndromes. We also discuss recommendations for diagnostic germline genetic testing. Testing for sarcoma-predisposing germline variants should be considered as part of the routine clinical workup and care of any child, adolescent, or adult diagnosed with STS and take into account consequences for the whole family.

Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations: hereditary persistence of α-fetoprotein is an important and benign differential diagnosis!

BACKGROUND: Hereditary persistence of α-fetoprotein (AFP) is a rare but benign condition. OBSERVATION: A 13-year-old girl presented with dysmenorrhoic complaints and irregular cycles. Diagnostic workup revealed a cystic lesion of the ovary and elevated AFP; ß-human chorionic gonadotrophin was negative. Right-sided ovarectomy was performed. Postsurgery AFP concentration did not decline. The patient underwent further diagnostic workup with negative results. Histology revealed follicular cysts but no tumor. Finally, hereditary persistence of AFP was suspected and AFP testing was performed in the family. CONCLUSIONS: It is important to include hereditary persistence of AFP in the differential diagnosis of elevated AFP concentrations to avoid harmful procedures.