Differential diagnosis of lipoma‐like lipoblastoma

Abstract

Lipoblastomas are rare benign tumors of white fatty tissue that occur primarily in young children. Occasionally, heterogeneity of morphological appearance and histological overlap with other lipogenic tumors are described. In such cases fluorescence in situ hybridization (FISH) analysis of PLAG1, a gene specifically rearranged in lipoblastoma, is necessary to prevent misdiagnosis. We present a case of lipoblastoma arising in an atypical site with histological features characteristic of lipoma. The correct diagnosis was made possible on cytogenetic grounds through the identification of the characteristic PLAG1‐HAS2 fusion gene, thus allowing an appropriate clinical approach. Pediatr Blood Cancer 2009;52:132–134. © 2008 Wiley‐Liss, Inc.

Mesenteric lipoblastoma presenting as a segmental volvulus

“…Rearrangement of the PLAG1 gene can be detected by FISH. This should be done in cases where the histologic examination is unclear and a diagnosis other than lipoblastoma would change the clinical management [22,25]. The histologic findings in this case, together with the immunophenotypic profile and results of FISH, were diagnostic of a circumscribed lipoblastoma.…”

“…Diagnosis is usually made by histologic appearance. Lipoblastomas appear as lobules of adipose tissue-containing lipoblasts within a myxoid matrix [22]. In addition, gene rearrangement and subsequent upregulation of the developmental zinc-finger gene PLAG1 is common in lipoblastoma but not other lipogenic tumors [23,24].…”

A novel t(3;8)(p13;q21.1) translocation in a case of lipoblastoma

“…Most lipoblastomas occur in the superficial tissues of the extremities and affect males three times as often as females [2,3]. Proper diagnosis can only be made after cytogenetic analysis, which allows it to be distinguished from the malignant myxoid liposarcoma [5][6][7]. We present a case of lipoblastoma discovered in an asymptomatic healthy 2-year-old female containing a translocation t(3;8)(p13;q21.1), which to our knowledge has not previously been reported.…”

Soft Tissues: Lipoblastoma with t(2;8)(q31;q12.1) COL3A1/PLAG1

“…Surgical excision is usually curative, with a recurrence rate of about 20% (Jimenez, 1986;Hicks et al, 2001). Histologically, lipoblastoma shows a characteristic lobular architecture, with lobules containing lipoblasts embedded in a myxoid matrix, whereas lipoma is a tumor composed of only mature fat without lobulation (Weiss, 1996;Kuhnen et al, 2002;de Saint Aubain Somerhausen et al, 2008;Morerio et al, 2009). …”