title: Clinicopathological characterization and genomic aberrations in subcutaneous panniculitis-like T-cell lymphoma.
abstract: Subcutaneous panniculitis-like T-cell lymphomas (SPTLs) represent a rare, difficult-to-diagnose, and poorly characterized subtype of cutaneous T-cell lymphomas (CTCLs) affecting younger people more than the other CTCL forms. We performed a thorough clinical, immunohistological, and molecular analysis of nine Finnish SPTL patients. Specifically, we performed single-cell comparative genomic hybridization (CGH) from laser microdissected, morphologically malignant SPTL cells, as well as loss of heterozygosity (LOH) and fluorescence in situ hybridization (FISH) analysis for the NAV3 (neuron navigator 3) gene. CGH revealed large numbers of DNA copy number changes, the most common of which were losses of chromosomes 1pter, 2pter, 10qter, 11qter, 12qter, 16, 19, 20, and 22 and gains of chromosomes 2q and 4q. Some of the DNA copy number aberrations in SPTL, such as loss of 10q, 17p, and chromosome 19, overlap with those characteristic of common forms of CTCL (mycosis fungoides (MF) and Sezary syndrome (SS)), whereas 5q and 13q gains characterize SPTL. Allelic NAV3 aberrations (LOH or deletion by FISH), previously found in MF and SS, were identified in 44% of the SPTL samples. This study demonstrates that SPTL is also moleculocytogenetically a uniform entity of CTCL and supports the current World Health Organization-European Organization for Research and Treatment of Cancer (WHO-EORTC) classification defining SPTL as a subgroup of its own.
authors.affiliation: Department of Dermatology and Allergology, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland. sonja.hahtola@helsinki.fi
authors.forename: Sonja
authors.initials: S
authors.lastname: Hahtola
authors.forename: Elke
authors.initials: E
authors.lastname: Burghart
authors.forename: Leila
authors.initials: L
authors.lastname: Jeskanen
authors.forename: Leena
authors.initials: L
authors.lastname: Karenko
authors.forename: Wael M
authors.initials: WM
authors.lastname: Abdel-Rahman
authors.forename: Bernhard
authors.initials: B
authors.lastname: Polzer
authors.forename: Mikael
authors.initials: M
authors.lastname: Kajanti
authors.forename: Päivi
authors.initials: P
authors.lastname: Peltomäki
authors.forename: Tom
authors.initials: T
authors.lastname: Pettersson
authors.forename: Christoph A
authors.initials: CA
authors.lastname: Klein
authors.forename: Annamari
authors.initials: A
authors.lastname: Ranki
mesh_terms: D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage / Q000235:genetics; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D016410:Lymphoma, T-Cell, Cutaneous / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009182:Mycosis Fungoides / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D015434:Panniculitis / Q000473:pathology; D012189:Retrospective Studies; D012751:Sezary Syndrome / Q000235:genetics; D012878:Skin Neoplasms / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D014944:World Health Organization
chemical_list: D008565:Membrane Proteins; C464453:NAV3 protein, human; D009419:Nerve Tissue Proteins