Introduction: Multiple endocrine neoplasia type 2A is an autosomal dominant disorder which is characterized by the occurrence of medullary thyroid carcinoma in association with pheochromocytoma and parathyroid tumors.
Case report: We present the case of a 64-year-old woman, with familial history of thyroid carcinoma, renal lithiasis and personal history of right nephrectomy for renal lithiasis, who presented for the investigation of a left lateral cervical mass. CT scan revealed bilateral thyroid nodules, multiple lateral cervical and supraclavicular lymph nodes metastasis, left ovarian tumor with lumbar, paraaortic and interaortocaval lymph nodes metastasis and small adrenal left nodule. Biochemistries revealed a high level of calcitonin 792 pg/ml, carcinoembryonic antigen 84 ng/ml, hypercalcemia 11 mg/dl, increased PTH 140 pg/ml, normal levels of plasma and urine metanephrines, normetanephrines. DNA testing of the RET proto-oncogene revealed the Cys634Arg mutation, confirming the MEN2 diagnostic. Bilateral ovariectomy, total hysterectomy and dissection of lomboaortic, interaortocaval lymph nodes were performed, testified by histopathological findings as high grade papillary serous ovarian carcinoma. Two months later, a total thyroidectomy, left superior parathyroidectomy and lateral neck dissection were performed. The histopathological examination confirmed bilateral medullary thyroid carcinoma, with 13 secondary metastatic lymphadenopathies due to ovarian carcinoma and parathyroid adenoma. Immediate postoperatively biochemistries were: calcitonin 41 pg/ml, PTH 10 pg/ml, normal total calcium, and at two months follow-up calcitonin 2.9 pg/ml, PTH 88.2 pg/ml, normal total serum calcium, carcinoembryonic antigen 2.23 ng/ml. Three years follow up CT scans showed no signs of relapse or secondary metastatic lesions.
Conclusions: When diagnosing a patient with MEN2A is important to look for clinical and biochemical features along with personal and family history and genetic testing. The incidental diagnosis of MEN2A allowed us to plan the genetic screening of the probands family. We anticipate that the multidisciplinary approach for treatment and follow-up investigations will increase the survival prognosis of our patient.
Keywords: MEN2A, papillary serous ovarian carcinoma
13 May 2023 - 16 May 2023