RESUMEN
Langerhans cell histiocytosis (LCH) is a rare condition with incidence in adults 1-2/1 million, wherein Langerhans cells proliferate abnormally, adversely impacting organs including most frequently bones, skin, lungs, pituitary gland, lymph nodes, gums and other organs. The LCH course varies widely among patients from a self-limiting condition, to one that progresses. But LCH only very rarely culminates in death. To aim of this text is to review all possible symptoms and manifestations of this disease.
Asunto(s)
Histiocitosis de Células de Langerhans , Adulto , Histiocitosis de Células de Langerhans/diagnóstico , Histiocitosis de Células de Langerhans/metabolismo , Histiocitosis de Células de Langerhans/terapia , Humanos , Ganglios Linfáticos/patología , Enfermedades RarasRESUMEN
In somatotroph pituitary tumours, somatostatin analogue (SSA) therapy outcomes vary throughout the studies. We performed an analysis of cohort of patients with acromegaly from the Czech registry to identify new prognostic and predictive factors. Clinical data of patients were collected, and complex immunohistochemical assessment of tumour samples was performed (SSTR1-5, dopamine D2 receptor, E-cadherin, AIP). The study included 110 patients. In 31, SSA treatment outcome was evaluated. Sparsely granulated tumours (SGST) differed from the other subtypes in expression of SSTR2A, SSTR3, SSTR5 and E-cadherin and occurred more often in young. No other clinical differences were observed. Trouillas grading system showed association with age, tumour size and SSTR2A expression. Factors significantly associated with SSA treatment outcome included age, IGF1 levels, tumour size and expression of E-cadherin and SSTR2A. In the group of SGST, poor SSA response was observed in younger patients with larger tumours, lower levels of SSTR2A and higher Ki67. We observed no relationship with expression of other proteins including AIP. No predictive value of E-cadherin was observed when tumour subtype was considered. Multiple additional factors apart from SSTR2A expression can predict treatment outcome in patients with acromegaly.
Asunto(s)
Acromegalia/complicaciones , Acromegalia/genética , Cadherinas/genética , Regulación de la Expresión Génica , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/etiología , Receptores de Somatostatina/genética , Acromegalia/metabolismo , Adulto , Biomarcadores , Toma de Decisiones Clínicas , Terapia Combinada , Manejo de la Enfermedad , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Neoplasias Hipofisarias/terapia , Pronóstico , Isoformas de Proteínas , Curva ROC , Receptores de Somatostatina/metabolismo , Resultado del Tratamiento , Adulto JovenRESUMEN
UNLABELLED: The concentration of calcium is carefully maintained under physiological conditions with parathormone, calcitonin and 1,25-dihydroxyvitamin D at appropriate levels. There are multiple causes that may bring about increased concentrations of calcium which exceed physiological values. Increased production of parathormone in parathyroid glands is only one of the possible causes. Malignant diseases are a very frequent cause of hypercalcemia, due to their creating mediators which stimulate osteoclasts and thereby osteolysis. A less frequent cause is represented by granulomatous processes, a typical example of which is sarcoidosis, whose cells increasingly (independently of parathormone) hydroxylate 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D. However there are also hereditary forms of hypercalcemia. One of the causes of the hereditary form of hypercalcemia is mutations of the calcium sensing receptor. In order to locate the adenoma of parathyroid glands, essential apart from sonographic imaging is scintigraphy 99mTc-methoxyisobutylisonitrile (MIBI) and even more exact is PET-CT examination with a radio-pharmaceutical 18F-fluorocholine. PET-CT examinations are beneficial with regard to detecting a malignant cause of hypercalcemia in until then undetected malignancy or an undetected granulomatous process. The essential treatment procedures for malignant hypercalcemia include appropriate hydratation of ionic solutions without calcium, administering of bisphosphonates or denosumab. The text describes in detail the symptoms of hypercalcemia and diagnostics of causes of hypercalcemia. KEY WORDS: bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary hypercalcemia - hypercalcemia - hypercalciuria - hyperparathyreosis - calcimimetics - calcitonin - multiple myeloma - malignant hypercalcemia - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.
Asunto(s)
Hipercalcemia/diagnóstico , Hipercalcemia/etiología , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/etiología , Calcitonina/sangre , Calcio/sangre , Diagnóstico Diferencial , Difosfonatos/uso terapéutico , Humanos , Hipercalcemia/tratamiento farmacológico , Neoplasias/complicaciones , Síndromes Paraneoplásicos/tratamiento farmacológico , Sarcoidosis/complicaciones , Vitamina D/análogos & derivados , Vitamina D/sangreRESUMEN
MEN1 syndrome is an autosomal dominant disorder caused by mutation in the men in gene located on the 11th chromosome. It is a rare disorder with incidence of 1 : 30â¯000. It involves functional or cancerous diseases of parathyroid glands, hypophysis, endocrine pancreas, adrenal glands, or other tumors. The diagnosis of MEN1 is suspected if at least 2 components of this multiple tumor syndrome occur simultaneously. The increase in diagnostic precision enables detection of MEN1 in its early stages. Currently, the most frequently discussed topics include the use of biomarkers for diagnostics and new approaches in surgical treatment of MEN1.
Asunto(s)
Neoplasia Endocrina Múltiple Tipo 1/diagnóstico , Neoplasia Endocrina Múltiple Tipo 1/terapia , Cromosomas Humanos Par 11/genética , Intervención Médica Temprana , Humanos , Masculino , Neoplasia Endocrina Múltiple Tipo 1/genética , Mutación , Pronóstico , Proteínas Proto-Oncogénicas/genéticaRESUMEN
Pheochromocytomas (PCCs) are rare neuroendocrine tumors derived from the chromaffin cells of the adrenal medulla. When these tumors have an extra-adrenal location, they are called paragangliomas (PGLs) and arise from sympathetic and parasympathetic ganglia, particularly of the para-aortic location. Up to 25% of PCCs/PGLs are associated with inherited genetic disorders. The majority of PCCs/PGLs exhibit indolent behavior. However, according to their affiliation to molecular clusters based on underlying genetic aberrations, their tumorigenesis, location, clinical symptomatology, and potential to metastasize are heterogenous. Thus, PCCs/PGLs are often associated with diagnostic difficulties. In recent years, extensive research revealed a broad genetic background and multiple signaling pathways leading to tumor development. Along with this, the diagnostic and therapeutic options were also expanded. In this review, we focus on the current knowledge and recent advancements in the diagnosis and treatment of PCCs/PGLs with respect to the underlying gene alterations while also discussing future perspectives in this field.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Paraganglioma , Feocromocitoma , Humanos , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Feocromocitoma/terapia , Paraganglioma/diagnóstico , Paraganglioma/genética , Paraganglioma/terapia , Carcinogénesis , Transformación Celular Neoplásica , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/genética , Neoplasias de las Glándulas Suprarrenales/terapiaRESUMEN
Objectives: To extend and revise the diagnostic value of contrast-enhanced ultrasonography (CEUS) for differentiation between malignant and benign thyroid nodules. Methods: This single-institution prospective study aims to compare CEUS qualitative and objective quantitative parameters in benign and malignant thyroid nodules. Consecutive cohort of 100 patients was examined by CEUS, 68 out of them were further analysed in detail. All included patients underwent cytological and/or histopathological verification of the diagnosis. Results: Fifty-five (81%) thyroid nodules were benign, and 13 (19%) were malignant. Ring enhancement pattern was strongly associated with a benign aetiology (positive predictive value 100%) and heterogeneous enhancement pattern with malignant aetiology (positive predictive value 72.7%). The shape of the TIC (time-intensity curve) was more often identical in the benign lesion (98.2%) than in malignant lesions (69.2%), p=0.004. Conclusions: This study indicates that CEUS enhancement patterns were significantly different in benign and malignant lesions. Ring enhancement was a very strong indicator of benign lesions, whereas heterogeneous enhancement was valuable to detect malignant lesions.
Asunto(s)
Nódulo Tiroideo , Medios de Contraste , Diagnóstico Diferencial , Humanos , Estudios Prospectivos , Sensibilidad y Especificidad , Nódulo Tiroideo/diagnóstico por imagen , Nódulo Tiroideo/patología , UltrasonografíaRESUMEN
BACKGROUND: Acromegaly is a disorder associated with hypersecretion of growth hormone, most usually caused by a pituitary adenoma. Dysmotility of the gastrointestinal tract has been reported in acromegalic patients. Achalasia is a disorder characterized by aperistalsis of the oesophagus with incomplete lower oesophageal sphincter relaxation and whose aetiology remains unknown. Mutations in some genes have previously been associated with the development of acromegaly or achalasia. The study aims were to analyse mutations in selected genes in a woman having both of these diseases, to identify their aetiological factors, and to suggest explanations for the co-incidence of acromegaly and achalasia. METHODS AND RESULTS: A female patient with acromegaly, achalasia, and a multinodular thyroid gland with hyperplastic colloid nodules underwent successful treatment of achalasia via laparoscopic Heller myotomy, a thyroidectomy was performed, and the pituitary macroadenoma was surgically excised via transnasal endoscopic extirpation. Germline DNA from the leukocytes was analysed by sequencing methods for a panel of genes. No pathogenic mutation in AAAS, AIP, MEN1, CDKN1B, PRKAR1A, SDHB, GPR101, and GNAS genes was found in germline DNA. The somatic mutation c.601C>T/p.R201C in the GNAS gene was identified in DNA extracted from a tissue sample of the pituitary macroadenoma. CONCLUSIONS: We here describe the first case report to our knowledge of a patient with both acromegaly and achalasia. Association of acromegaly and soft muscle tissue hypertrophy may contribute to achalasia's development. If one of these diagnoses is determined, the other also should be considered along with increased risk of oesophageal and colorectal malignancy.
Asunto(s)
Acromegalia , Acalasia del Esófago , Neoplasias Hipofisarias , Acromegalia/complicaciones , Acromegalia/genética , ADN , Acalasia del Esófago/complicaciones , Acalasia del Esófago/genética , Femenino , Humanos , Incidencia , Neoplasias Hipofisarias/genéticaAsunto(s)
Hormonas/uso terapéutico , Procedimientos de Reasignación de Sexo , Transexualidad , Femenino , Humanos , MasculinoRESUMEN
Insulinomas are the most common functioning endocrine tumors of the pancreas. Most of them are well-differentiated tumors, with benign or uncertain behavior at the time of diagnosis. Surgery is considered to be the only curative treatment modality. We present the first case report of a 75-year-old woman with functioning insulinoma of the pancreatic body, which was destroyed by laparoscopic-assisted radiofrequency ablation. Hypoglycemic paroxysms disappeared immediately after surgery. The postoperative course was uneventful. The patient was discharged on the eighth postoperative day. There was a new onset of diabetes mellitus, without any further hypoglycemic paroxysm from surgery to the present-4 months. Laparoscopic-assisted radiofrequency ablation is shown to be a feasible and safe method for the treatment of functioning pancreatic insulinoma.