Multiple endocrine neoplasia type 2A.

Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant inherited cancer syndrome that expresses nonendocrine and endocrine tumors. Here, we describe a 42-year-old man with an initial presentation of low back pain and hypertension. Clinical assessments revealed pheochromocytoma, medullary thyroid carcinoma with bone metastasis, and parathyroid hyperplasia. MEN 2A was diagnosed, and a family history of pheochromocytoma was traced. Surgical resection of the pheochromocytoma of the adrenal gland resulted in a cure of the patient's hypertension. He received systemic chemotherapy with the "MAID" regimen (mesna, doxorubicin, ifosfamide, and dacarbazine) over three cycles of 3 weeks each, and showed a partial response.

Long-term follow-up after parathyroidectomy for radiation-induced hyperparathyroidism.

BACKGROUND: External radiation is associated with a risk of hyperparathyroidism. We reviewed the outcomes after operation for radiation-induced hyperparathyroidism (R-HPT). METHODS: We conducted a retrospective review of all patients who had operative therapy for R-HPT from 1980 to 2003 in our department with a minimum of 3 years of follow-up after operative therapy. RESULT: Between 1980 and 2003, 1932 patients underwent parathyroidectomy for primary hyperparathyroidism. Thirty-seven (1.92%) patients had a history of neck irradiation. Thirty-two patients underwent a bilateral exploration (BE), and 5 patients had a focused approach (FA). Thirty-five patients presented with single gland disease, and 2 patients had multiple gland disease. In the BE group, 26 patients remained cured biochemically after a median follow-up of 10.3 years (range, 3-21 years), and 6 patients had recurrence after a median of 13.2 years (range, 7-22 years). In the FA group, all 5 patients remained cured biochemically; however, the median follow-up remained shorter (6.4 years; range, 3-8 years). CONCLUSION: In R-HPT, the incidence of multiple gland disease at the time of initial operation was comparable with sporadic HPT. In the absence of thyroid disease, an FA may be proposed for R-HPT. Metachronous pathologic glands may develop several years after successful parathyroidectomy in R-HPT. Hence, lifelong follow-up of these patients is essential.

Two cases of medullary thyroid carcinoma.

INTRODUCTION: Medullary thyroid carcinoma (MTC) is a rare thyroid malignancy but accounts for a significant mortality. We present 2 cases of MTC and review the literature regarding its management and genetic screening. CLINICAL PICTURE: Patient 1 presented after a routine health screening and subsequently was found to have a germline mutation for MEN 2A. Patient 2 presented with sweating irritability and a thyroid mass which illustrates the progressive relentless nature of the disease and highlights current imaging practice. TREATMENT: Both patients underwent extensive surgery and received postoperatively ablative dose of radioactive iodine. Patient 2 also had a large dose I-131 MIBG therapy and further surgery. OUTCOME: In Patient 1, postoperative calcitonins remained elevated indicating residual disease. Patient 2 underwent further radioguided surgery; however, his postoperative calcitonins remained elevated. CONCLUSION: MTC can be relentless. Routine genetic screening of all patients with MTC, Tc-99m pentavalent (V) DMSA imaging, near total thyroidectomy with routine central neck dissections and removal of all lymph nodes in the central neck compartment should be performed.

[Multiple endocrine neoplasia-type medullary thyroid carcinoma in three generations of a family]. / Multiplex endokrin neoplasia típusú medullaris pajzsmirigy-carcinoma egy család három generációjában.

The familial accumulation of a multiple endocrine neoplasia (MEN) type 2a medullary thyroid carcinoma, is described based on the retrospective analysis of a family history. The proband was characterized by medullary carcinoma (MC) combined with phaeochromocytoma, her child had been shown to suffer from MC. In the third generation of the family C-cell hyperplasia and bilateral adrenal hyperplasia occurred. It is shown that in order to arrive at a correct decision as regards the therapy to be used, modern laboratory tests (serum calcitonin, CEA-analysis) and diagnostic imaging methods (ultrasound, computer tomography, magnetic resonance imaging, positron emission tomography, metaiodobenzylguanidine scintigraphy) should be used. It is emphasized that the available therapeutic means (surgery, radiotherapy, nuclear medicine) have to be carefully selected and, if necessary, combined. In medullary thyroid carcinoma associated tumours in other endocrine organs should be expected to occur. Family screening using blood chemical and genetic tests are recommended in asymptomatic cases, since their surgical treatment can in this way lead to complete recovery.