التفاصيل البيبلوغرافية
| العنوان: |
Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It? |
| المؤلفون: |
Amorim, Débora Meira Ramos, Koga, Gustavo Kendy Camargo, dos Santos, Rodrigo Nolasco, Secundo, Paulo Fernando Carvalho, de Ávila Fernandes, Eloy, Cardili, Leonardo, Maeda, Sergio Setsuo, da Rocha Corrêa Fernandes, Artur, Lazaretti-Castro, Marise |
| المصدر: |
Calcified Tissue International; Jan2023, Vol. 112 Issue 1, p118-122, 5p |
| مصطلحات موضوعية: |
OSTEOGENESIS imperfecta, PIGMENT epithelium-derived factor, GENETIC variation, CHONDROSARCOMA, CONNECTIVE tissues, FEMORAL epiphysis |
| مستخلص: |
Osteogenesis imperfecta (OI) type VI is a rare inherited disorder of the connective tissue caused by pathogenic variants in SERPINF1 gene, which encodes the pigment epithelium-derived factor (PEDF). PEDF is implicated in many biologic processes, including an anti-cancer role. This information is supported by in vitro and in vivo studies that evidenced its anti-angiogenic, anti-tumorigenic, and anti-metastatic properties. Although OI is related to skeletal changes such as bone fragility and deformities, as well as to other connective tissue defects, it does not represent a greater predisposition to the development of skeletal tumors. Here, we report on an adult with OI in which a deletion in exon 8 of the SERPINF1 gene (c.1152_1170del; p.384_390del) was identified. The patient presented popcorn calcification in both femoral epiphyses, but one of them presented radiological characteristics and evolution suspected of malignancy. Later, it was diagnosed as chondrosarcoma. This paper discusses that OI type VI patients may be at risk of developing some types of cancer. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
