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

Area of Science:

• Genetics and Molecular Biology
• Oncology
• Orthopedics

Background:

• Osteogenesis imperfecta (OI) type VI is a rare inherited connective tissue disorder caused by pathogenic variants in the SERPINF1 gene, encoding pigment epithelium-derived factor (PEDF).
• PEDF exhibits anti-cancer properties, including anti-angiogenic, anti-tumorigenic, and anti-metastatic effects, supported by in vitro and in vivo studies.
• While OI primarily involves skeletal fragility and deformities, it is not generally associated with an increased predisposition to skeletal tumors.

Purpose of the Study:

• To report a case of Osteogenesis imperfecta type VI with an unusual presentation of chondrosarcoma.
• To discuss the potential association between OI type VI and an increased risk of certain cancers.

Main Methods:

• Genetic analysis identifying a deletion in exon 8 of the SERPINF1 gene (c.1152_1170del; p.384_390del) in an adult patient with OI.
• Radiological assessment of femoral epiphyses, noting popcorn calcification and suspicious features of malignancy in one epiphysis.
• Histopathological diagnosis of chondrosarcoma.

Main Results:

• The patient, diagnosed with OI type VI due to a specific SERPINF1 gene deletion, presented with bilateral femoral epiphysis calcifications.
• One femoral epiphysis showed radiological characteristics suggestive of malignancy, which was later confirmed as chondrosarcoma.
• This case highlights an unexpected occurrence of chondrosarcoma in an OI type VI patient.

Conclusions:

• Patients with Osteogenesis imperfecta type VI, despite the general understanding, may face an elevated risk for developing specific types of cancer.
• The findings warrant further investigation into the potential oncogenic pathways or interactions related to SERPINF1 gene variants and cancer development.
• This case underscores the importance of vigilant monitoring for neoplastic changes in patients diagnosed with rare genetic disorders like OI type VI.