Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity
| Autor: | Dennis P. O'Malley, Christian N. Paxton, Sarah T. South, Yuri Fedoriw, Sherrie L. Perkins, Deema Alkapalan, Andrew M. Bellizzi, Jason L. Hornick, Erica F. Andersen |
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| Rok vydání: | 2017 |
| Předmět: |
Genetic Markers
Male 0301 basic medicine medicine.medical_specialty Pathology Systemic disease DNA Copy Number Variations Juvenile xanthogranuloma Biopsy Gene Dosage Loss of Heterozygosity Biology Pathology and Forensic Medicine Loss of heterozygosity 03 medical and health sciences 0302 clinical medicine medicine Chromosomes Human Humans Genetic Predisposition to Disease Child Oligonucleotide Array Sequence Analysis Skin medicine.diagnostic_test Genome Human Infant Anatomical pathology Middle Aged medicine.disease eye diseases Phenotype Treatment Outcome 030104 developmental biology Cytopathology 030220 oncology & carcinogenesis Cytogenetic Analysis Female Trisomy Hematopathology Xanthogranuloma Juvenile |
| Zdroj: | Modern Pathology. 30:1234-1240 |
| ISSN: | 0893-3952 |
| DOI: | 10.1038/modpathol.2017.50 |
| Popis: | Juvenile xanthogranuloma is a rare histiocytic proliferation primarily affecting infants and young children, characterized by aberrant infiltration of histiocyte-derived cells in the skin, soft tissues and more rarely, visceral organs. Juvenile xanthogranuloma is generally considered to be a benign disorder; most lesions are solitary cutaneous nodules that resolve spontaneously without treatment. However, cases with extracutaneous involvement, multiple lesions, and/or systemic disease often require aggressive therapy. Though molecular studies have provided evidence of clonality in juvenile xanthogranuloma, in support of a neoplastic process, little is known about the genetic profile of juvenile xanthogranuloma. We used molecular inversion probe array technology to evaluate the genomic characteristics (copy number alterations or copy neutral-loss of heterozygosity) of 21 archived cases of juvenile xanthogranuloma (19 solitary, 1 diffuse cutaneous, 1 systemic). Four cases (19%) showed acquired, clonal alterations. Two lesions from a case of diffuse cutaneous juvenile xanthogranuloma showed distinct profiles: JXG-1a contained trisomy 5 and 17 and JXG-1b contained loss of heterozygosity in 5q. The systemic juvenile xanthogranuloma (JXG-2) showed multiple genomic alterations. Only two of 19 solitary juvenile xanthogranulomas showed abnormal genomic profiles: JXG-3 showed gains on 1q and 11q and JXG-4 showed a 7.2 Mb loss in 3p. No recurrent abnormalities were observed among these cases. The presence of non-recurrent copy number alterations in a subset of samples implies that copy number changes are unlikely driving pathogenesis in juvenile xanthogranuloma, but may be acquired during disease progression. The presence of genomic abnormalities in more advanced cases (ie, systemic and diffuse cutaneous juvenile xanthogranuloma) supports this notion, particularly as the advanced cases of juvenile xanthogranuloma presented more genomic complexity. |
| Databáze: | OpenAIRE |
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