Evidence by Spectral Karyotyping that 8q11.2 Is Nonrandomly Involved in Lipoblastoma

Abstract

We report two cases of lipoblastoma with chromosome 8-related aberrations, ie, a 92,XXYY,t(7;8Xp22;q11.2)x2 [8]/46,XY[16] in Case 1 and a 46,XY,-8,-13,add(16) (q22),+mar, +r [cp13]/46,XY[7] in Case 2. Using spectral karyotyping and fluorescence in situ hybridization techniques, the karyotype of Case 2 was redesignated as 46,XY, r(8), del(13)(q12), der(16)ins(16;8)(q22; q24q11.2)[cp13]/46,XY[7]. This report delineates a new chromosome rearrangement, ie, der(16)ins(16;8)(q22; q24q11.2) in lipoblastoma, and also confirms the t(7; 8)(p22;q11.2), reported only once previously, as a recurrent translocation involved in such a tumor. These findings provide valuable information for clinical molecular cytogenetic diagnosis of lipoblastoma. Furthermore, this report highlights the value of cytogenetic and molecular cytogenetic analysis in differential diagnosis of childhood adipose tissue tumors and adds to the number of lipoblastomas reported with chromosomal abnormalities at 8q11.2.

Pediatric lipoblastoma in the head and neck: A systematic review of 48 reported cases

“…There is no evidence of nuclear atypia as would be seen in liposarcomas [21]. There is a growing body of research correlating chromosomal breakpoint abnormalities at 8q11-q13 with lipoblastoma [22,23]. There is the potential in the future for chromosomal analysis to assist with the histological diagnosis [21].…”

Multicolor spectral karyotyping of rat chromosomes

“…The results of these studies could contribute to diagnosis, therapy decisions, and follow-up studies in the respective cases and also facilitated the identification and mapping of disease related candidate genes (e.g. Griffin et al, 1999;Chen et al, 2000). However, for a thorough understanding of the causative genetic factors leading to human diseases such as cancer, animal models are an important method to experimentally control and investigate candidate genes for their phenotypic effects and functions (e.g.…”

An isolated digital lipoblastoma

“…Histologically, the mitotic rate (proliferation index) and the presence or absence of atypical mitotic figures helps to differentiate between the two. Cytogenetic studies can be used to differentiate liposarcoma from lipoblastoma with rearrangements in chromosome 8 (band q11-13) typical of lipoblastoma in contrast to the translocation t(12;16) (q13;p11) found in myxoid liposarcoma [3].…”