Panizo-Morgado, E. (Elena)
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- Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma(Springer nature, 2020) Patiño-García, A. (Ana); Alonso-Roldán, M.M. (Marta María); Gutierrez-Jimeno, M. (Miriam); Panizo-Morgado, E. (Elena); San-Julian, M. (Mikel); Catalán-Lambán, A. (Ana); Tamayo, I. (Ibon)Rothmund–Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the RECQL4 gene. We hereby present a familiar case of RTS in two siblings from a Portuguese family, both diagnosed with osteosarcoma. Genomic analysis (203 genes) of both tumors as well as germline analysis of the RECQL4 gene, thus confirming the syndrome in the family, have been performed. The relevance of clinical recognition of the hallmarks of the disease and thus early diagnosis with early intervention is highlighted.
- Clinical value of NGS genomic studies for clinical management of pediatric and young adult bone sarcomas(MDPI, 2021) Gutierrez-Jimeno, M. (Miriam); Alba-Pavon, P. (Piedad); Astigarraga, I. (Itziar); Imizcoz-Fabra, T. (Teresa); Panizo-Morgado, E. (Elena); García-Obregón, S. (Susana); Catalán-Lambán, A. (Ana); San-Julian, M. (Mikel); Lamo-Espinosa, J.M. (J. M.); Echebarría-Barona, A. (Aizpea); Zalacain, M. (Marta); Alonso-Roldán, M.M. (Marta María); Patiño-García, A. (Ana)Clinical management of sarcomas is complex because they are rare and heterogeneous tumors. Management requires a coordinated multidisciplinary approach, especially in children. Genomic characterization of this complex group of tumors contributes to the identification of prognostic biomarkers and to the continued expansion of therapeutic options. In this article, we present the positive experience of two Spanish hospitals in the use of genomic analysis in the overall clinical management of sarcomas in children and young adults. We describe on a case-by-case basis how genomic analysis has contributed to both diagnosis and treatment.