Medullary thyroid carcinoma as manifestation of the loss of heterozygosity in a patient with MEN1

Incidental occurrence of metastatic medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 1 carrying germline MEN1 and somatic RET mutations

“…To our knowledge only two cases of MTC in a patient with MEN1 have been reported so far . At variance with our case, the patient recently reported by Aranda Velazchez et al carried a MEN1 germline mutation and LOH of the MEN1 gene in the MTC, suggesting that the thyroid tumor occurred as part of the MEN1 syndrome.…”

“…Of note, the RET M918Tis the most frequently reported mutation in sporadic MTC, with a very high transforming activity, and is associated with aggressive tumors 6. To our knowledge only two cases of MTC in a patient with MEN1 have been reported so far 1,2. At variance with our case, the patient recently reported by Aranda Velazchez et al carried a MEN1 germline mutation and LOH of the MEN1 gene in the MTC, suggesting that the thyroid tumor occurred as part of the MEN1 syndrome.…”

“…We hereby describe a case of concurrent MEN 1 syndrome and metastatic medullary thyroid cancer, a combination of neoplasms previously described only in two cases …”

“…

We hereby describe a case of concurrent MEN 1 syndrome and metastatic medullary thyroid cancer, a combination of neoplasms previously described only in two cases. 1,2 A 42-year-old man was found to have mild hypercalcemia during routine biochemical screening. In April 2011, the patient was referred to our Department for further evaluation.

…”