Potential diagnostic implications of breakpoints in the long arm of chromosome 8 in lipoblastoma

Potential diagnostic implications of breakpoints in the long arm of chromosome 8 in lipoblastoma

We report a case of lipoblastoma in a 17-month-old male patient with a pseudodiploid karyotype of 46,XY,der(14)t(8;14)(q11.2;q24). The tumor cells show two normal chromosome 8 homologs in addition to the extra 8q11.2→qter segment, making it trisomic for the region 8q11.2→qter, and monosomic for 14q2...

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Veröffentlicht in:Cancer genetics and cytogenetics 1994-08, Vol.76 (1), p.39-42
Hauptverfasser: Sawyer, J.R., Parsons, E.A., Crowson, M.L., Smith, S., Erickson, S., Bell, J.M.
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
chromosome 8
Chromosome Aberrations
Chromosomes, Human, Pair 8
Dermatology
Humans
Infant
Karyotyping
lipoblastoma
Lipoma - genetics
Lipoma - pathology
Male
man
Medical sciences
Pelvic Neoplasms - genetics
Pelvic Neoplasms - pathology
Tumors of the skin and soft tissue. Premalignant lesions
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Zusammenfassung:We report a case of lipoblastoma in a 17-month-old male patient with a pseudodiploid karyotype of 46,XY,der(14)t(8;14)(q11.2;q24). The tumor cells show two normal chromosome 8 homologs in addition to the extra 8q11.2→qter segment, making it trisomic for the region 8q11.2→qter, and monosomic for 14q24→qter. Reports of chromosome studies in lipoblastoma are rare; however, a breakpoint in the long arm of chromosome 8q11–13 appears to be emerging as a consistent finding.
ISSN:0165-4608
1873-4456
DOI:10.1016/0165-4608(94)90068-X