Caracterización de tumores secretores de hormona de crecimiento de acuerdo al patrón granular y su rol en el pronóstico / Prognostic value of granular pattern of growth hormone secreting tumors

Background: Classification of growth hormone (GH) - secreting tumors by the granular pattern might predict their clinical behavior in acromegalic patients. There are several other prognostic factors. Aim: To compare the features at presentation and cure rates of patients with GH secreting tumors according to the granular pattern, and to define independent prognostic factors for surgical treatment in these patients. Material and Methods: A retrospective, observational study of 85 active acromegalic patients surgically treated in two medical centers. Results: Seventy-four patients (87%) were classified as having densely granulated (DG) and 11 (13%) as sparsely granulated (SG) tumors. The latter were less active biochemically, had a higher rate of macroadenoma and cavernous sinus invasion and had a lower rate of biochemical cure than the DG group. Several characteristics were associated with disease persistence but only age (Odds ratio (OR) = 0.93) and cavernous sinus invasion (OR = 21.7) were independently associated in the logistic regression model. Conclusions: The sparsely granulated pattern is associated with a more aggressive behavior, but the main determinants of prognosis are age and cavernous sinus invasion.

Estudio y manejo de nódulos tiroideos por médicos no especialistas. Consenso SOCHED / Study and management of thyroid nodes by non specialist physicians: SOCHED consensus

The thyroid nodule is a frequent cause of primary care consultation. The prevalence of a palpable thyroid nodule is approximately 4-7%, increasing up to 67% by the incidental detection of nodules on ultrasound. The vast majority are benign and asymptomatic, staying stable over time. The clinical importance of studying a thyroid nodule is to exclude thyroid cancer, which occurs in 5 to 10% of the nodules. The Board of SOCHED (Chilean Society of Endocrinology and Diabetes) asked the Thyroid Study Group to develop a consensus regarding the diagnostic management of the thyroid nodule in Chile, aimed at non-specialist physicians and adapted to the national reality. To this end, a multidisciplinary group of 31 experts was established among university academics, active researchers with publications on the subject and prominent members of scientific societies of endocrinology, head and neck surgery, pathology and radiology. A total of 14 questions were developed with key aspects for the diagnosis and subsequent referral of patients with thyroid nodules, which were addressed by the participants. In those areas where the evidence was insufficient or the national reality had to be considered, the consensus opinion of the experts was used through the Delphi methodology. The consensus was approved by the SOCHED board for publication.

Importancia de la tiroglobulina sérica preablativa en la predicción de sobrevida libre de enfermedad en cáncer diferenciado de tiroides / Preablative serum thyroglobulin as predictor of disease-free survival in differentiated thyroid cancer

Background: Serum thyroglobulin (sTg) is an excellent marker of persistence or recurrence of disease in differentiated thyroid cancer (DTC), however its role as prognostic factor has not been fully established. Aim: To assess the value of the preablative thyroglobulin (pTg) as predictor of disease-free survival in DTC. Patients and Methods: Retrospective study of 104 patients with low and intermediate risk DTC subjected to total thyroidectomy and 131iodine ablation. TSH, pTg and thyroglobulin antibodies (AbTg) were determined by chemiluminescence. Patients with distant metastases or presence of AbTg were excluded. Results were analyzed using receiving operating characteristic (ROC) curves. Results: During the 40 ± 29 months of follow-up (range 6-132), 14 of 104 (13%) patients had recurrence of disease. pTg was an independent indicator to predict disease-free survival. Using a pTg cutoff of < 10 ng/ml the negative predictive value was 99%, sensitivity 93%, specificity 82%, positive likelihood ratio (LR) 5.2 and negative LR 0,087. Conclusions: pTg value is useful as a prognostic marker in predicting disease-free survival in DTC patients with low or intermediate risk of recurrence.

Multiple endocrine neoplasia: the Chilean experience

Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's": parathyroid, pituitary, and pancreatic tumors, including gastroenteroneuroendocrine tumors. Genetic testing can be performed on patients and the potential carriers of the menin gene mutation, but the genotype-phenotype correlation in multiple endocrine neoplasia type 1 is less straightforward than multiple endocrine neoplasia type 2. Most likely, the main advantage of genetic testing in MEN1 is to exclude from further studies those who are negative for the genetic mutation if they belong to a family with a known history of MEN1. In Chile, we started with rearranged during transfection proto-oncogene genetic testing (MEN2) 15 years ago. We carried out a prophylactic total thyroidectomy to prevent medullary thyroid carcinoma in a three-year-old girl who presented with microscopic medullary thyroid carcinoma. More than 90% of the individuals who tested positive using a genetic test achieved a biochemical cure compared with only 27% of patients who receive a clinical diagnosis. Mutations are mainly located in exon 11; the most common is C634W, rather than C634R. Hypertensive crisis was the cause of death in three patients, and extensive distant metastases occurred in nine (including two patients with multiple endocrine neoplasia type 2B) of 14 patients. Earlier recognition of medullary thyroid carcinoma and the other features of the disease, especially pheochromocytoma, will improve the survival rate of patients with multiple endocrine neoplasia.

Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico / Multiple paragangliomas associated to a SDHB gene mutation: Report of one case

Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydroge-nase subunits genes, are associated with familial paraganglioma syndromes 1,2,3 and 4. We report a 29-year-old woman with a family background of pheochromocytoma and history of paroxysmal headache, nausea, sweating, palpitations, associated with severe hypertension. The patient had elevated plasma noradrenalin and urinary normetanephrines. Imaging studies revealed three retroperitoneal extra-adrenal masses. The clinical and laboratory study of classic syndromes associated with para-ganglioma was negative. The patient was operated and the pathological study of the surgical specimen was consistent with paragangliomas. The genetic study showed a mutation in the SDHB succinate dehydrogenase gen, Exon 2 of CCTCA c.300_304 (p.P56delYfsX5).

Insuficiencia suprarrenal y crisis addisoniana como primera manifestación de cáncer de pulmón y metástasis suprarrenal bilateral: Caso clínico / Addisonian crisis caused by metastatic lung cancer: Report of one case

Addisonian crisis as a first manifestation of metastatic disease secondary to cancer is uncommon. We report a 63-year-old man with a history of one year of fatigue, weakness, weight loss and repeated symptomatic hypoglycemia. The cortisol stimulation test with ACTH confirmed primary adrenal insufficiency. While receiving adequate treatment with oral hydrocortisone, he presented an adrenal crisis that was treated properly. A CT scan of the lung demonstrated a nodule in the upper right lobe and bilateral adrenal tumors. The biopsy of the lesion revealed a lung adenocarcinoma. The staging with positron emission tomography using 18 fluoroglucose (PET/CT18F- FDG) showed hypermetabolic uptake in the primary lung tumor and in both adrenal glands, suggesting metastatic implants.