Infantile Osteosarcoma (IOS), a rare and very aggressive bone cancer that develops in children, adolescents, and young adults. It is caused by deletions of chromosome 13q14 that inactivate the retinoblastoma gene associated with high risk of OS. OS is may be associated with Paget disease and fibrous dysplasia. There is a higher incidence of OS in Li-Fraumeni syndrome (germline TP53 inactivation); hereditary retinoblastoma (germline RB1 inactivation); Rothmund-Thompson syndrome (germline RECQLA inactivation); and Bloom and Werner syndromes (germlines BLM and WRN inactivations respectively, which encode proteins necessary to stabilize the genome. OS occurs very rarely on the hands as it has a predeliction for metaphyseal regions of long bones like distal femur, proximal tibia and humerus, around the knees, shoulders, ribs, pelvis, and mandible.
The X-ray of the hand shows a well-circumscribed large lesion with cortical destruction on metacarpals and phalanges with a "moth-Eaten" appearance, and "ballooning" effect with calcifications. There is an osteoid matrix with fluffy "cloud-like" appearance of the tumor. IOS presents with periosteal pain that worsens at night, with large localized palpable swelling with limited joint motion, and sudden fractures. OS has the possibility to metastasize to the lungs. Ddx. Enchondroma, fibrous dysplasia, chondrosarcoma, osteoblastoma, Ewing sarcoma, giant cell tumor, aneurysmal bone cysts, and reactive myositis ossificans. Dx. X- ray showing sunburst appearance, Codman sign with soft tissue mass; CT-scan, and MRI; biopsy with histopathology showing tumor cells with nuclear pleomorphism, less so in cells entrapped in neoplastic bone matrix; chest X-ray, in case of metastasis, showing solitary or multiple round nodules mostly on lower lobes. Lab. tests showing elevated ALP and LDH. Management: limb-salvage surgery that removes as much of the tumor to save the limb. If this isn't feasible, then limb amputation with neoadjuvant and adjuvant combination chemotherapy: high dose methotrexate with leucoverin, cisplatin, adriamycin, ifosfamide and bleomycin; cyclophosphamide and dactinomycin (BCD); etoposide, muramyl tripeptide, and mifamurtide; radiotherapy Targeted therapy with tyrosine kinase inhibitors may also be considered. Prognosis depends on staging, size of tumor, location, whether there is metastasis, resectability, and histopathology of the tumor such as the degree of necrosis of the primary tumor, degree of P-glycoprotein, and whether the tumor is CXCR4-positive or HER2-positive.