A case of secondary malignant giant-cell tumor of bone with p53 mutation after long-term follow-up

Hum Pathol. 2011 May;42(5):727-33. doi: 10.1016/j.humpath.2010.08.008. Epub 2011 Jan 14.

Abstract

A 46-year-old man was admitted to the hospital with a recurrent giant-cell tumor of the distal femur. This was his fourth recurrence, and it had occurred 16 years after his last treatment. The resected recurrent tumor was histologically determined to be a conventional giant-cell tumor. However, a single lung metastatic lesion and local recurrence were noticed 6 months after the resection, both of which were surgically excised. The lung lesion was histologically determined to be an implantation of giant-cell tumor, whereas the local recurrent lesion contained a clearly separated fibrosarcomatous area within the conventional giant-cell tumor. Immunohistochemistry showed diffuse and strong p53 expression in the fibrosarcomatous area. Direct sequencing revealed a p53 mutation in the sarcomatous area and a recessive mutant signal in the conventional area. The lung lesion also contained the same p53 mutation. Identification of the p53 mutation may help in diagnosing potential malignant transformation of giant-cell tumor.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / metabolism
  • Adenocarcinoma / secondary
  • Arthrography
  • Base Sequence
  • Cell Transformation, Neoplastic / pathology
  • Cysteine
  • Femur / diagnostic imaging
  • Fibrosarcoma / metabolism
  • Fibrosarcoma / pathology
  • Follow-Up Studies
  • Genes, Recessive
  • Genes, p53*
  • Giant Cell Tumor of Bone / diagnosis
  • Giant Cell Tumor of Bone / genetics*
  • Giant Cell Tumor of Bone / secondary*
  • Giant Cell Tumor of Bone / surgery
  • Humans
  • Immunohistochemistry
  • Lung Neoplasms / genetics
  • Lung Neoplasms / secondary
  • Lung Neoplasms / surgery
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Neoplasm Recurrence, Local
  • Rectal Neoplasms / diagnosis
  • Rectal Neoplasms / metabolism
  • Rectal Neoplasms / pathology
  • Thymine
  • Tomography, X-Ray Computed
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • Tumor Suppressor Protein p53
  • Cysteine
  • Thymine