The diagnosis, genetic alternation, and treatment of the primary pleomorphic liposarcoma of the femur in a rare age: Case report and literature review

Introduction: Liposarcoma of the bone is an extremely rare and aggressive primary bone tumor. We aimed to review all liposarcoma cases in the literature and present our new young female patient with liposarcoma. Methods: of literature review and case presentation: Electronic databases (PubMed, Scopus, Web of Science (WOS), and Google Scholar) were searched to retrieve the related cases on liposarcoma. Extraction for important clinical data was done independently by two authors to present age, gender, site, histological type, the treatment used, and clinical outcomes of survival or recurrence. In our presented case, we followed the CARE checklist. Results: A total of 33 patients were included in the literature search: 19 (57.6 %) male and 14 (42.4 %) female, with a mean age of 42.85 +/- 18.83. Seven patients (21.2 %) were less than the age of 20 years old. The most frequent subtype was primary pleomorphic liposarcoma. Most treatment options were resection, excision, and amputation with or without chemotherapy. Recurrence was reported in four cases. However, most patients died due to late diagnosis with distant organ metastasis. Case presentation: we report a case of primary pleomorphic liposarcoma of the left distal femur of a twelve-year-old female. The patient presented with a painful lower thigh swelling, not responding to analgesics. Imaging studies were done and showed a lesion extended across the distal physeal plate laterally and centrally with scattered lesions medially. Histologically, the tumor showed a uniformly pleomorphic liposarcomatous pattern with extensive necrosis. Genetic analysis showed frequent mutations in LATS2, CREBBP, and SMAD2 genes in addition to deletions and amplifications in different genetic pathways. Two cycles of MAP chemotherapy were completed before tumor excision and total left knee replacement, followed by two other MAP cycles postoperatively. Multiple lung metastases were detected on chest CT 10 months postoperatively. The patient died 13 months postoperatively. Conclusion: Primary pleomorphic liposarcoma can present as sclerotic and aggressive malignant bone tumors at an early age. Excision, MAP, and MAPI chemotherapy are not enough to treat this tumor.