Which malignancies are associated with McCune-Albright syndrome?

Updated: Jan 05, 2021
  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
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Only a few cases of malignant transformation of skeletal lesions have been described in the setting of MAS, most frequently in the setting of therapeutic irradiation. This occurs in probably less than 1% of MAS cases. The tendency for malignant transformation to occur may be greater in patients who have concomitant GH excess or those with Mazabraud syndrome. Observed malignancies include the following:

A study by Hagelstein-Rotman et al, using the Dutch Pathology Registry and the Netherlands Cancer Registry, as well as the investigators’ patient cohort, suggested that the risk for osteosarcoma, melanoma, and cervical, thyroid, and prostate cancer is greater in individuals with FD/MAS. The standardized morbidity ratios for these patients were as follows [22] :

  • Osteosarcoma (19.7)
  • Cervical cancer (4.93)
  • Thyroid cancer (3.71)
  • Prostate cancer (3.08)
  • Melanoma (2.01)

Females appear to be at greater risk for breast cancer, probably as a consequence of prolonged exposure to elevated estrogen and/or GH levels. The underlying GNAS1 mutation also may play a role. For the same reasons, these patients also appear to be at increased risk for thyroid malignancies and testicular cancer (a novel finding by the National Institutes of Health [NIH]).

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