جستجوی مقالات مرتبط با کلیدواژه "multiple endocrine neoplasia" در نشریات گروه "پزشکی"

Medullary thyroid carcinoma (MTC) is the third most prevalent thyroid cancer and the most invasive form. This malignancy could be presented either in a sporadically or a familial pattern. Although the majority of cases with this disease are presented sporadically, familial screening is of great necessity in every MTC case since of all heritable cancers, MTCs are the most common malignancies. Therefore, after the familial screening of MTC patients using clinical symptoms along with paraclinical tools, the present study identified 19 familial medullary thyroid carcinoma (FMTC) cases in one family. Since most FMTCs are associated with multiple endocrine neoplasia’s (MEN's) syndrome, it has attracted a great deal of scientific attention. This syndrome was ruled out herein through both genetic and clinical testing in these individuals. Thus, due to the scarcity of the familial form of this disease, the significant number of MTC in a family, and the absence of MEN syndrome in these people, we decided to report 19 patients with MTC in the same family without MEN’s syndrome from southwest of Iran; this report emphasizes the necessity of familial screening even in the absence of the MEN's syndrome.

A 16-year- old girl with history of hypertension was referred to the surgery department due to multiple hypertrophied lesions in both lips and on the lateral sides of the tongue. The lesions have been appeared gradually within the last year and only issued as a cosmetic concern. Which one could not be considered as the differential diagnosis of the patient? neurofibroma neurilemoma Leukoplakia Neuroma Correct answer: This figure demonstrates enlarged lip and hypertrophied tongue lesions which can be seen in neurofibroma, traumatic neuroma, neurilemoma, granular cell tumor, and neuroma; the net diagnosis is made by microscopic examination of a tissue biopsy. Leucoplakia as it is understood by its name is a white plaque with wide range of differential diagnosis; trauma, lichen planus, systemic lupus erythematous (SLE), leukoedema, and malignancy. On retrograde history taking, the patient had a total thyroidectomy due to medullary thyroid carcinoma (MTC) two years ago and right adrenalectomy due to pheochromocytoma last year. What would be the most probable diagnosis? Neurofibromatosis type 1 MEN 2A syndrome MEN 2B syndrome MEN 1 syndrome Correct answer: The classic combination of the mucosal neuroma, MTC, and pheochromocytoma together define the multiple endocrine neoplasia type 2B (MEN 2B). Patients with MEN 2B syndrome also might have marfanoid features. In Neurofibromatosis type 1, neurofibromas, multiple café- au- lait spots, iris hamartomas, skeletal abnormalities, glioma, and cognitive disorders are expected. MEN 2A is identical with MEN 2B but instead of marfanoid features and neuromas, parathyroid hyperplasia is seen. MEN 1 syndrome is characterized by pituitary adenoma, parathyroid hyperplasia, and pancreatic tumor. Due to the high fatality of MTC, early detection of MEN 2B cases and prophylactic thyroidectomy is of great importance and clinical suspicion to MEN 2B by non- endocrinologic features is critical in patients [1]. Currently, growing evidence is affecting our mindset about the clinical picture of MEN 2B syndrome. While MEN 2B patients are classically considered to be tall with marfanoid features, current studies report pediatric patients with proportionate short stature. It is also highlightable that intestinal ganglioneuromatosis associated with MEN 2B, should be considered in the differential diagnosis of Hirschsprung’s disease in children with constipation during early infancy.

Multiple Endocrine Neoplasia type 2B (MEN2B) is an autosomal dominant disorder characterized by Medullary Thyroid Carcinoma (MTC) and pheochromocytoma. MTC occurs in almost all MEN2B patients. The tumor develops at an earlier age and is aggressive. Surgery is often not curative for this condition. Death from MTC occurred in 50% of patients with MEN2B. Thus, early diagnosis and prevention are crucial in this regard. Thyroidectomy, as early as the neonatal period, may be indicated in patients with MEN2B identified by genetic screening.

We reported a 24-year-old male presented to the emergency department with dyspnea for the past 3 months. There was a nodule 3*3 cm in the Right Lower Lobe (RLL) of the thyroid gland. Non-contrast Computer Tomography (CT) scan of the lung revealed multiple nodular lesions compatible with metastasis. The Fine Needle Aspiration (FNA) cytology of the thyroid nodule indicated that the features of medullary thyroid carcinoma were positive stains in Immunohistochemistry (IHC) for calcitonin. A diagnosis of pulmonary metastatic medullary thyroid carcinoma, as a presenting feature of MEN2B, was made. The
patient was treated with Vandetanib.

In the reported MEN2B patient, MTC occurred in the early stages of life and was
multifocal. Thus, it is crucial to diagnose medullary thyroid cancer at the early stages of the disease.

Laryngeal multiple mucosal neurinomas can make intubation difficult.. A 16-year-old female referred to the general surgery department complaining of hoarseness and itchy throat for the past 18 months. Her symptoms had not resolved after medical treatments. After examination, the patient was admitted to the hospital and radical neck dissection was scheduled for her. Since it was assumed that lesions similar to lesions of the tongue might exist in the patient’s respiratory tract, outpatient laryngoscopy and fibroscopy was performed. A yellow-white lesion was seen in front of the left-sided vocal cord. Pathological findings of the lesion confirmed neurinoma. Laryngoscopy and tube insertion were done using a GlideScope.. During the laryngoscopy, the neurinoma did not make any difficulty and the patient was intubated successfully..

Multiple Endocrine Neoplasia type IIa (MEN IIa) is an autosomal dominant syndrome characterized by pheochromocytoma, medullary thyroid carcinoma and hyperparathyroidism. Pheochromocytoma occurs in approximately 50% of patients with MEN IIa. This tumor has the capacity to produce ACTH ectopically and manifests as the Cushing syndrome, although it is very rare. We report a 26-year-old woman patient with severe muscle weakness, skin lesions in extremities, hypertension, and new onset diabetes whose laboratory findings included hypokalemia, metabolic alkalosis, high serum level of cortisol, metanephrine, normetanephrine, calcitonin and bilateral adrenal mass in computed tomography as the first clinical manifestations of an ACTH-secreting pheochromocytoma. In the patients with hypertension, new onset diabetes and hypokalemia, the Cushing syndrome and pheochromocytoma should always be ruled out.

MEN-I is a rare genetic disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary gland, and pancreatic islet cells. We present a case of MEN-I syndrome diagnosed using predominantly nuclear medicine imaging followed by radionuclide therapy, thus emphasizing the role of nuclear imaging in diagnosing and treating MEN-I..