Molecular diagnosis of parathyroid carcinoma: a reality in the near future

Parathyroid carcinoma (PC) is a rare endocrine malignancy that still suffers from a problem of delayed clinical diagnosis. Consequently, it usually is not recognized preoperatively and often is not conclusively identified during the operation either.

The role played by parafibromin in the development of PC, representing an important advance in understanding the pathogenesis of this malignancy, is discussed. Through a careful search of the international literature, using "parathyroid carcinoma", "molecular genetics of parathyroid carcinoma" and "parathyroid tumorigenesis" as key words, other less mentioned molecular mechanisms are reappraised as potential molecular markers of PC; we also discuss their potential role in 20 parathyroid outgrowths. Finally, both the major efforts and the limitations of reported molecular diagnostic techniques and diagnostic markers are considered.

Currently, several critical issues still need to be addressed, such as the lack of: i) common criteria for the histopathological diagnosis of parathyroid malignancy and ii) timely appropriated preoperative diagnosis of PC. The latter issue would be of fundamental importance to assist the surgeon in performing a complete resection of all carcinomatous tissue at the time of the initial surgery, allowing for the greatest likelihood of a cure.