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Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?

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Abstract

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.

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Authors and Affiliations

  1. Department of Endocrinology, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    Débora Meira Ramos Amorim, Gustavo Kendy Camargo Koga, Rodrigo Nolasco dos Santos, Sergio Setsuo Maeda & Marise Lazaretti-Castro

  2. Diagnostic Imaging Department, Universidade Federal de São Paulo, São Paulo, Brazil

    Paulo Fernando Carvalho Secundo, Eloy de Ávila Fernandes & Artur da Rocha Corrêa Fernandes

  3. Departament of Pathology, Universidade Federal de São Paulo, São Paulo, Brazil

    Leonardo Cardili

Authors
  1. Débora Meira Ramos Amorim
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  2. Gustavo Kendy Camargo Koga
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  3. Rodrigo Nolasco dos Santos
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  5. Eloy de Ávila Fernandes
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Correspondence to Débora Meira Ramos Amorim.

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Conflict of interest

Débora Meira Ramos Amorim, Gustavo Kendy Camargo Koga, Rodrigo Nolasco dos Santos, Paulo Fernando Carvalho Secundo, Eloy de Ávila Fernandes, Leonardo Cardili, Sergio Setsuo Maeda, Artur da Rocha Corrêa Fernandes, and Marise Lazaretti Castro declare that they have no conflict of interest.

Ethical Approval

CEP/UNIFESP n. 0036/2017.

Human and Animal Rights

Our case report is under the ethical standards of the national and institutional committee on human study.

Informed Consent

Patient signed the informed consent to participate in this study after the protocol was properly approved by the Ethics Committee in Research (research number n. 0036/2017).

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Amorim, D.M.R., Koga, G.K.C., dos Santos, R.N. et al. Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?. Calcif Tissue Int 112, 118–122 (2023). https://doi.org/10.1007/s00223-022-01033-4

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