title: Intrascrotal lipoblastoma with a complex karyotype: a case report and review of the literature.
abstract: Lipoblastoma is a tumor of adipose tissue that usually occurs in young children. Most lipoblastomas occur on the extremities, trunk, and head and neck, and most have rearrangements of the 8q region. We describe a lipoblastoma in a 12-month-old boy who presented with a rapidly enlarging scrotal mass. Electron microscopy revealed features consistent with immature adipocytes, and cytogenetic analysis revealed the following karyotype: 57,XY,+4,+6,+7,der(8)t(8;12) (q22;q13), +der(8)t(8;12) (q22;q13), +9,+10,+12,-16,+17,+der(18)t(8;18)(q22;q23),+19,+20. Interestingly, the breakpoint on chromosome 12 (q13) is the same as that seen in lipoblastomas. To our knowledge, this is the first reported case of such a complex karyotype in lipoblastoma and adds to the expanding list of karyotypic abnormalities seen in such tumors.
authors.affiliation: Division of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada. gino.somers@sickkids.ca
authors.forename: Gino R
authors.initials: GR
authors.lastname: Somers
authors.forename: Ikuko
authors.initials: I
authors.lastname: Teshima
authors.forename: Ahmed
authors.initials: A
authors.lastname: Nasr
authors.forename: Anthony
authors.initials: A
authors.lastname: Cook
authors.forename: Antoine E
authors.initials: AE
authors.lastname: Khoury
authors.forename: Glenn P
authors.initials: GP
authors.lastname: Taylor
mesh_terms: D000782:Aneuploidy; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D002898:Chromosomes, Human, Pair 8; D005834:Genital Neoplasms, Male / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008067:Lipoma / Q000235:genetics*; D008297:Male; D012611:Scrotum; D014178:Translocation, Genetic