Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants.
Soft tissue tumors in children under one year of age (infants) are rare. The etiology is usually unknown, with external factors or congenital birth defects and hereditary syndromes being recognized in only a small proportion of the cases. We ascertained the cytogenetic findings in 16 infants from whom tumor tissue had been obtained during a 25-year period. In eight of them, single nucleotide polymorphism (SNP) array analyses could also be performed. No constitutional chromosome aberrations were detected, and assessment of clinical files did not reveal any congenital or later anatomical defects. Three tumors--one infantile fibrosarcoma, one embryonal rhabdomyosarcoma, and one angiomatoid fibrous histiocytoma (AFH)--had abnormal karyotypes. As the AFH had an exchange between chromosome arms 12p and 15q, additional fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analyses were performed, unexpectedly revealing an ETV6/NTRK3 fusion. Three of the eight tumors, including the AFH with an abnormal karyotype, analyzed by SNP array showed aberrations (loss of heterozygosity or imbalances). The present series suggests that the addition of array-based technologies is valuable for detecting underlying pathogenetic mechanisms.
Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden; Department of Pathology, University and Regional Laboratories, Skåne University Hospital, Lund, Sweden. Electronic address: charles.walther@med.lu.se.
Charles
C
Walther
Jenny
J
Nilsson
Fredrik Vult
FV
von Steyern
Thomas
T
Wiebe
Henrik C F
HC
Bauer
Karolin H
KH
Nord
David
D
Gisselsson
Henryk A
HA
Domanski
Nils
N
Mandahl
Fredrik
F
Mertens
D017668:Age of Onset; D020732:Cytogenetic Analysis; D005260:Female; D005354:Fibrosarcoma / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D046228:Microarray Analysis / Q000379:methods; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics; D020812:Receptor, trkC / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D012189:Retrospective Studies; D018233:Rhabdomyosarcoma, Embryonal / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D012983:Soft Tissue Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
D015514:Oncogene Proteins, Fusion; D050783:Proto-Oncogene Proteins c-ets; D020812:Receptor, trkC; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein
Cytogenetics; SNP array; infant; soft tissue