No genomic aberrations in langerhans cell histiocytosis as assessed by diverse molecular technologies

Cristiana E.T. Da Costa, Karoly Szuhai, Ronald Van Eijk, Manja Hoogeboom, Raphael Sciot, Fredrik Mertens, Helga Björgvinsdóttir, Maria Debiec-Rychter, Ronald R. De Krijger, Pancras C.W. Hogendoorn, R. Maarten Egeler*, Nicola E. Annels

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

57 Citations (Scopus)

Abstract

The etiology of Langerhans cell histiocytosis (LCH), a disease characterized by uncontrolled proliferation of Langerhans cells, is unknown. Although some believe that LCH is reactive, others support a neoplastic origin. We tested the hypothesis that LCH is neoplastic by investigating potential consistent chromosomal aberrations in LCH cells. We used multipara-meter DNA flow cytometry to analyze the DNA ploidy LCH cells in 20 cases, performed karyotype analysis in 31 cases, array-based comparative genomic hybridization (arrayCGH) and single nucleotide polymorphism (SNP) arrays with DNA from flow-sorted CD1 a-positive and CD1a-negative cells in 19 cases. Ploidy analysis revealed diploid DNA content in all cases. The karyotype of all patients analyzed was normal, excluding the presence of balanced translocations. ArrayCGH and SNP arrays did not show genome abnormalities. Despite positive TP53 protein immunohistochemical staining, sequencing of exon 5 to 8 of p53 gene showed no alterations in 7 cases. This study strongly suggests that gross chromosomal abnormalities do not cause LCH. Although we cannot exclude cryptic point mutations in as yet unidentified genes, this study of 72 LCH cases shows that LCH may be the result of restricted oligoclonal stimulation rather than unlimited neoplastic proliferation.

Original languageEnglish
Pages (from-to)239-249
Number of pages11
JournalGenes Chromosomes and Cancer
Volume48
Issue number3
DOIs
Publication statusPublished - 1 Mar 2009

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