Search

Neuroendocrine tumours are a heterogeneous group of neoplasms with a variety of treatment options, but studies suggest they should in most cases, if they are not curable surgically, be treated initially with monthly long-acting somatostatin analogues. New data recently published suggest that if patients show progression on the current analogues at the recommended doses, increasing the dose or frequency of these analogues may provide a further therapeutic effect, although proper randomised trials will be necessary to confirm this effect.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumour syndrome characterised by three main manifestations: primary hyperparathyroidism (78–94%), gastroenteropancreatic neuroendocrine tumours (GEP-NETs) (35–78%) and pituitary adenomas (20–65%). For metastatic and inoperable GEP-NETs, there are some interventional and medical therapies. Peptide receptor radionuclide therapy (PRRT) with Yttrium-90 (90Y) and Lutetium-177 (177Lu) is one of the important radiotherapies. Herein we describe a case of MEN1 syndrome with inoperable metastatic GEP-NETs who had excellent response to the treatment with six cycles of 177Lu-DOTATATE. The patient was admitted to our clinic with widening of hands and feet, polyuria, polydipsia, nausea, vomiting and constipation. His laboratory and screening findings were consistent with primary hyperparathyroidism, acromegaly, secondary hypogonadism and central diabetes insipidus. He underwent 3.5 parathyroidectomy and hypophysis adenomectomy. Under treatment with lanreotide and cabergoline, he developed metastatic duodenal NET. PRRT with 177Lu-DOTATATE was administered in six cycles and an excellent response was displayed without any side effect. In conclusion, the dramatic response of the patient to PRRT with 177Lu-DOTATATE, described in our case report and recent published articles indicating the beneficial efficacy and limited adverse effects of 177Lu-DOTATATE, should encourage clinicians to use PRRT for inoperable or metastatic NETs.

Progressive hirsutism and moderate to severe male-pattern balding in women requires exclusion of an adrenal or ovarian tumour, especially in the presence of significantly elevated androgen levels. We present the case of a 68-year-old woman who was referred to an endocrinology clinic with insidious onset excessive facial hair growth and loss of scalp hair. Her testosterone levels were significantly elevated at 13 nmol/L (normal range: 0.1–1.4 nmol/L), although dehydroepiandrosterone sulphate and 17-hydroxyprogesterone levels were normal, suggestive of an ovarian source of androgens. Repeated radiologic investigations, including pelvic ultrasound, and abdominal and pelvic computed tomography, could not identify the obvious source of androgens. Based on strong clinical suspicion of an ovarian tumour, she underwent an elective salpingo-oophorectomy, which detected an occult Leydig cell tumour on histopathological analysis. Post-operatively, her hyperandrogenic features significantly improved and testosterone levels normalized.

The presentation of adrenocortical carcinoma (ACC) with bilateral adrenal masses and acute adrenal insufficiency is exceedingly rare and has only been seen in anecdotal case reports. Herein, we describe the case of a 50-year-old male who presented with a painful abdominal lump, loss of weight and appetite, several episodes of vomiting, and hypotension. Imaging studies were suggestive of bilateral adrenal masses and a lung mass. Hormonal work-up was suggestive of acute adrenal insufficiency, with the adrenal masses being non-secretory. An ultrasound-guided biopsy from one of the adrenal masses was suggestive of ACC, thus confirming the diagnosis as bilateral ACC with distant metastases. Bilateral adrenalectomy was planned for the patient, but unfortunately, he succumbed to his disease before the surgery.

Primary leiomyosarcoma (LMS) of thyroid is rare malignant neoplasm usually seen in elderly patients. These tumours are characterised by a rapidly growing mass in the neck, difficult to diagnose preoperatively and are highly aggressive with high recurrence rates in spite of radical surgery, chemotherapy and radiotherapy. We herein report a case of 50-year-old female with a rapidly growing painless mass in the neck. Total thyroidectomy with bilateral neck node clearance was done. Histology and Immunohistochemistry revealed primary LMS of thyroid gland. Within 1 month of radical surgery she developed local recurrence. Diagnosis of primary LMS is difficult and immunohistochemistry is necessary to differentiate it from other malignancies of the thyroid. Primary LMS remains a life-threatening tumour and more effective treatment are needed to improve outcome.

Adrenocortical carcinoma (ACC) is a rare and aggressive endocrine tumour deriving from the adrenal cortex. A correct therapeutic strategy requires a multidisciplinary approach between endocrinologist, surgeon and oncologist. Surgery is the mainstay treatment in ACC while mitotane, deriving from the insecticide dichloro-diphenyl-trichloro-ethane, is the main base of the medical treatment of ACC in consideration of its adrenocytolitic activity. However, the use of mitotane as adjuvant therapy is still controversial, also in consideration of the retrospective nature of several studies. A prospective randomised trial (ADIUVO), recruiting patients with low-intermediate risk of recurrence, is evaluating the utility of adjuvant treatment with mitotane in this setting. The therapeutic response is observed with plasma levels of mitotane >14 mg/L. However, the major difficulty in the management of mitotane treatment is related to side effects and to the risk of toxicity, which is related to plasmatic levels >20 mg/L, that is considered the upper limit of the therapeutic window. Mitotane therapy results in adrenal insufficiency, and glucocorticoid replacement therapy has to be administered at higher doses than those used in other aetiologies of primary adrenal insufficiency. Furthermore, other endocrine side effects related to mitotane should be considered, in particular on thyroid hormone and testosterone metabolism. Waiting for new medical strategies on molecular targets, it will be mandatory to optimise the current knowledge by prospective trials and, in consideration of the rarity of the disease, collaborative studies between endocrinologists and oncologists are necessary