title: Clonal karyotypic evolution in a pediatric neurofibrosarcoma.
abstract: A retroperitoneal neurofibrosarcoma infiltrating the spine of a 2-year-old boy was investigated cytogenetically three times over a 5-month period. The first sample, from a diagnostic fine-needle aspiration biopsy, had a supernumerary i(1)(q10) as the sole clonal aberration; two cells showed monosomy 18 in addition to the isochromosome. The second sample, obtained at tumor resection 3 weeks later, had the karyotype 47,XY, +i(1)(q10), -18, +21/45,XY, -18. After 5 months, a large local recurrence was resected. The chromosome analysis showed further clonal evolution: 45,XY, +1,der (1;11)dic(1;11)(q44;q13)i(1)(q10), inv(6)(p21q12), -17. The findings indicate that formation of i(1)(q10) and loss of chromosome 18 may be early genetic events in neurofibrosarcoma development.
authors.affiliation: Department of Clinical Genetics, University Hospital, Lund, Sweden.
authors.forename: F
authors.initials: F
authors.lastname: Mertens
authors.forename: S
authors.initials: S
authors.lastname: Heim
authors.forename: C M
authors.initials: CM
authors.lastname: Kullendorff
authors.forename: M
authors.initials: M
authors.lastname: Donnér
authors.forename: I
authors.initials: I
authors.lastname: Hägerstrand
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D009364:Neoplasm Recurrence, Local; D018319:Neurofibrosarcoma / Q000235:genetics* / Q000473:pathology; D012186:Retroperitoneal Neoplasms / Q000235:genetics* / Q000473:pathology