A Thoracic Wall Lipoblastoma in a 3-Month-Old Infant

Abstract

Lipoblastoma is a rare benign tumor of adipose tissue seen almost always in infancy and early childhood. Lipoblastoma is present in 2 forms which are pathologically identical: circumscribed and diffuse. It is typically located in the extremities, and less frequently in head-neck region, trunk, and various organs. Lipoblastoma is a tumor with good prognosis with no reported metastases, despite its potential for local invasion and rapid growth. Our patient was a 3-month-old boy who was brought to our clinic for rapidly growing mass in the right hemithorax. With the aim of both diagnosis and treatment, the lipomatous mass was removed by local resection. In addition to the patient's age, histologic and cytogenetic analyses assisted the diagnosis of diffuse lipoblastoma. In the postoperative period, the thorax wall was unaffected, and after 6 years of follow-up no recurrence was observed. In the English literature, 8 cases of thoracic wall lipoblastoma have been previously reported, and only 3 of diffuse form. Here, we report, at our knowledge, the fourth case of thoracic diffuse lipoblastoma, in which cytogenetic analysis showed a previously undescribed karyotype aberration involving chromosomes 8, 13, and 16.

Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature

“…A variable number of marker chromosomes (5)(6)(7)(8)(9)(10)(11)(12) was observed in each of the 25 metaphases assessed on routine chromosome analysis, with an average of 10 marker chromosomes per cell (Figure 2A). Metaphase FISH using PLAG1-specific BACs RP11-246A9 (red) and RP11-1130K23 (green) confirmed the presence of PLAG1 on all of the marker chromosomes ( Figure 2B), thus confirming that these markers were derived from chromosome 8.…”

“…The presence of lipoblasts, plexiform vessels, focal myxoid stroma and pleomorphism in lipoblastoma can overlap with lipoma, fibrolipoma, hibernoma or malignant adipositic tumours such as myxoid liposarcoma and well-differentiated liposarcoma (WDLS). [4][5][6] Thus, chromosomal alterations observed by cytogenetic studies are extremely valuable in the differential diagnosis of lipogenic and lipomatous tumours. [7][8][9][10] The typical chromosome abnormality associated with lipoblastoma is a rearrangement involving a region on the proximal part of the long arm of chromosome 8, 8q11-13, which is thought to lead to up-regulation of the pleomorphic adenoma gene 1 (PLAG1) encoding a transcription factor ( Table 1).…”

“…This oncogene is believed to be responsible for the tumorigenesis of lipoblastoma through a promoter-swapping event resulting in the up-regulation of PLAG1. 6,11,12 Most commonly, this is mediated by a chromosomal translocation. An alternative mechanism for the up-regulation of PLAG1 is low-level amplification of chromosome 8 with or without PLAG1 rearrangement, as reported in hepatoblastoma.…”

Cervical Lipoblastoma: An Uncommon Presentation

“…[1][2][3] Lipoblastomas most commonly occur in the superficial trunk and extremities and rarely develop in the head and neck region. 1,[3][4][5][6][7][8][9][10][11][12] Cervical lipoblastomas are exceedingly rare; only 4 cases with stridor have been previously reported in the literature. 4,5,13 Here, we report the fifth case of cervical lipoblastoma causing stridor in a child.…”

“…8,10 The clinical symptoms are mainly associated with tumor size and location. 8,10 Respiratory symptoms, dysphagia, trismus, hoarseness, and Horner syndrome also have been reported. 10 Diagnosis.…”