title: Uterine cellular leiomyomata with chromosome 1p deletions represent a distinct entity.
abstract: OBJECTIVE
  This study aimed to determine whether 1p deletion defines a subset of cellular leiomyomata (CL), which is a hypercellular variant of uterine leiomyomata that may have delayed malignant potential, and to correlate this genetic change with clinical and pathologic characteristics including those present in uterine sarcomas.
  
  
  METHODS
  Available CL cases at the Mayo Clinic (n = 101) and variant cases reported in another article (n = 16) were identified. Each case with sufficient tissue that met histologic criteria for CL when reviewed by a single pathologist underwent interphase fluorescence in situ hybridization to determine the presence of 1p deletion. Clinical characteristics of women with confirmed CL were compared on the basis of 1p deletion status using univariate analysis.
  
  
  RESULTS
  Of the Mayo Clinic cohort of histologically confirmed CL, 23% had deletion of 1p. Women with this subset of CL, when compared to those without 1p deletion, were more likely to be postmenopausal (P = .049) and their uteri tended to be heavier (P = .039) with a larger dominant leiomyoma (P = .030). The pathologic features associated with 1p deletion were high cellularity (P = .036) and hyaline necrosis (P = .047), which remained significant after inclusion of the CL cases from a previously published series.
  
  
  CONCLUSIONS
  Deletion of 1p occurs in approximately one-quarter of CL cases. This genetic alteration is potentially associated with clinicopathologic features that are present in uterine sarcomas, which suggests a distinct clinical entity that may have malignant potential. Our findings are particularly pertinent considering the increased preference for uterine-sparing options in leiomyoma treatment, suggesting assessment of 1p deletion status in CL may influence clinical surveillance decisions.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA. Electronic address: jennelle.hodge@csmc.edu.
authors.forename: Jennelle C
authors.initials: JC
authors.lastname: Hodge
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Kathryn E
authors.initials: KE
authors.lastname: Pearce
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Amy C
authors.initials: AC
authors.lastname: Clayton
authors.affiliation: Department of Obstetrics and Gynecology and Surgery, Mayo Clinic, Rochester, MN; Department of Obstetrics and Gynecology, University Women's Clinic, Tübingen, Germany.
authors.forename: Florin A
authors.initials: FA
authors.lastname: Taran
authors.affiliation: Department of Obstetrics and Gynecology and Surgery, Mayo Clinic, Rochester, MN.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Stewart
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007889:Leiomyoma / Q000235:genetics* / Q000473:pathology; D008593:Menopause; D008875:Middle Aged; D009215:Myometrium / Q000473:pathology*; D012189:Retrospective Studies; D012509:Sarcoma / Q000235:genetics* / Q000473:pathology; D014015:Tissue Banks; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology
keywords: FISH; cellular leiomyomata; chromosome 1p; leiomyosarcoma; uterine leiomyomata