2025, Number 2
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Bol Clin Hosp Infant Edo Son 2025; 42 (2)
Osteosarcoma in a pediatric patient with Li-Fraumeni syndrome: clinical case report
Pérez VJM, Reyes GÉE, Rodríguez CD
Language: Spanish
References: 15
Page: 32-35
PDF size: 209.04 Kb.
ABSTRACT
Osteosarcoma is the most common primary malignant
bone tumor, with a bimodal incidence in adolescence
and in adults over 60 years of age. Most cases
of osteosarcoma are sporadic, however, there is an increasing
number of cancer predisposition syndromes
that are considered risk factors for the development
of osteosarcoma, such as Li-Fraumeni syndrome
(LFS). We present the case of a 14-year-old female patient
with a family history of cancer, who begins with
pain in the right lower extremity in the posterior region
of the ankle, which progresses until it becomes disabling.
Imaging studies with a report of calcifications
and cortical thinning of the distal fibula diaphysis, soft
tissue biopsy with a report of high-grade osteosarcoma,
genetic sequencing study, where a heterozygous
pathogenic variant in the TP53 gene (c.559+2T›A)
was identified, confirming genetic diagnosis of LFS.
LFS is an autosomal dominant inherited disease characterized
by the early appearance of multiple tumors
in an individual and several members of their family,
such as: sarcomas, osteosarcomas, breast cancer,
brain tumors, leukemias, and adrenal carcinomas.
This clinical case report describes the approach of a
patient with osteosarcoma and LFS, a rare syndrome
which most doctors and even specialists are not familiar
with and so its diagnosis and treatment is delayed.
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