JMD Association for Molecular Pathology 2008 Annual Meeting
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JMD 2000, Vol. 2, No. 2
Copyright © 2000 American Society for Investigative Pathology & Association for Molecular Pathology

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

Zhong Chen*, Cheryl M. Coffin{dagger}, Steven Scott§, Aurelia Meloni-Ehrig{ddagger}, Rebecca Shepard{ddagger}, Bonnie Issa*, David R. Forsyth*, Avery A. Sandberg, Arthur R. Brothman* and Amy Lowichik{dagger}

From the Cytogenetics Laboratory, * the Department of Pathology, {dagger} and the Cytogenetics/FISH Core Laboratory, {ddagger} University of Utah School of Medicine, Salt Lake City, Utah; Salt Lake Orthopedics, § Salt Lake City, Utah; and Genzyme Genetics, Santa Fe, New Mexico

We report two cases of lipoblastoma with chromosome 8-related aberrations, ie, a 92,XXYY,t(7;8)(p22;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.






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Copyright © 2000 by the American Society for Investigative Pathology and the Association for Molecular Pathology.