Elsevier

Human Pathology

Volume 25, Issue 3, March 1994, Pages 287-292
Human Pathology

Original contribution
Analysis of clonality in archival tissues by polymerase chain reaction amplification of PGK-1

https://doi.org/10.1016/0046-8177(94)90201-1Get rights and content

Abstract

Clonality of archival formalin-fixed tissue sections was analyzed by polymerase chain reaction amplification of a portion of the X-linked phosphoglycerate kinase (PGK-1) gene. Amplification was successful in 29 of 36 cases of uterine endometrioid adenocarcinoma. Five of these cases, including both tumor and control tissue from the same patients, were heterozygous for the BstXI polymorphic site of the PGK-1-amplified product, permitting analysis of clonality. Pretreatment of the DNA with HpaII blocked amplification of one of the two PGK-1 alleles from four of five cases of tumor, indicating the clonal pattern of X chromosome inactivation in these cases. In contrast, in DNA from paired control tissues HpaII pretreatment had no effect, indicating a random pattern of X chromosome inactivation in normal tissue. One of the cases of endometrioid adenocarcinoma contained a high proportion (45%) of nontumor cells, precluding the determination of clonality. We conclude that polymerase chain reaction amplification can be used for the determination of the pattern of X chromosome inactivation in formalin-fixed tissue sections. Such an approach makes it feasible to include specimens from archival tissue collections in the analysis of clonality.

References (52)

  • Y Boyd et al.

    Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

    Genomics

    (1990)
  • KM Josten et al.

    Acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria: Studies on clonality

    Blood

    (1991)
  • RJ Kurman et al.

    Evaluation of criteria for distinguishing atypical endometrial hyperplasia from well-differentiated carcinoma

    Cancer

    (1982)
  • A King et al.

    Stromal invasion in endometrial adenocarcinoma

    Am J Obstet Gynecol

    (1984)
  • SG Silverberg

    The uterine corpus

  • DG Gilliland et al.

    Clonality in myeloproliferative disorders: Analysis by means of the polymerase chain reaction

  • PC Nowell

    The clonal evolution of tumor cell populations

    Science

    (1976)
  • P Alexander

    Do cancers arise from a single transformed cell or is monoclonality of tumors a late event in carcinogenesis?

    Br J Cancer

    (1985)
  • ML Barr et al.

    A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis

    Nature

    (1949)
  • L Luzzato et al.

    Switching off blocks of genes

    Nature

    (1983)
  • MF Lyon

    Sex chromatin and gene action in the mammalian X-chromosome

    Am J Hum Genet

    (1962)
  • AD Riggs

    X inactivation, differentiation, and DNA methylation

    Cytogenet Cell Genet

    (1975)
  • SM Gartler et al.

    Mammalian X-chromosome inactivation

    Ann Rev Genet

    (1983)
  • E Beutler et al.

    The normal human female as a mosaic of X-chromosome activity: Studies using the gene for G-6-PD deficiency as a marker

  • B Vogelstein et al.

    Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors

    Science

    (1985)
  • D Linder et al.

    Glucose-6-phosphate dehydrogenase mosaicism: Utilization as a cell marker in the study of leiomyomas

    Science

    (1965)
  • Cited by (29)

    • Clonal nature of odontogenic tumours

      2009, Journal of Oral Pathology and Medicine
    • Clonality study of palmar fibromatosis

      2006, Chinese Journal of Pathology
    View all citing articles on Scopus

    Supported by Academic Enrichment Funds provided by the Department of Pathology, University of Colorado Health Sciences Center.

    View full text