Clonal complex chromosome aberration in non-ossifying fibroma

Area of Science:

• Orthopedic Oncology
• Skeletal Dysplasias
• Human Genetics

Background:

• Non-ossifying fibromas (NOFs) are common benign bone tumors with limited available cytogenetic data.
• The benign nature and asymptomatic presentation of most NOFs contribute to the scarcity of genetic information.
• Surgical intervention is infrequent, further limiting cytogenetic analysis opportunities.

Observation:

• A case of non-ossifying fibroma (NOF) in the left tibia of a 14-year-old male is presented.
• The tumor exhibited an invariable clonal translocation, identified via karyotyping.
• The specific karyotype was recorded as 42-46,XY,t(11;3;14)(q23;p21;p11).

Findings:

• This report documents a rare instance of a non-ossifying fibroma (NOF) with a clonal chromosomal abnormality.
• Only two prior cases of NOFs with aberrant karyotypes have been reported in the literature.
• The identified translocation, t(11;3;14), represents a novel finding in the context of NOF cytogenetics.

Implications:

• Further investigation into the cytogenetics of non-ossifying fibromas (NOFs) is warranted.
• Consistent karyotypic aberrations may potentially aid in defining and classifying NOF lesions.
• Accumulating data on genetic alterations could offer insights into the pathogenesis of NOFs.