Asunto(s)
Carcinoma Medular , Carcinoma de Células Renales , Hidronefrosis , Neoplasias Renales , Cálculos Ureterales , Obstrucción Ureteral , Anciano , Femenino , Humanos , Carcinoma Medular/complicaciones , Pueblos del Este de Asia , Hidronefrosis/diagnóstico por imagen , Hidronefrosis/etiología , Hidronefrosis/cirugía , Neoplasias Renales/complicaciones , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/cirugía , Cálculos Ureterales/complicaciones , Cálculos Ureterales/diagnóstico por imagen , Cálculos Ureterales/cirugíaRESUMEN
Renal medullary carcinoma (rmc) is a rare and aggressive renal malignancy that usually presents at an advanced stage, has a poor prognosis, and is associated with sickle cell trait. We present a case of rmc including radiologic and pathology findings, treatment, and outcome. A review of the literature is also presented, with an emphasis on the association of rmc with sickle cell trait, which was an unknown diagnosis in our patient preoperatively.
Asunto(s)
Supervivientes de Cáncer/estadística & datos numéricos , Carcinoma Medular/complicaciones , Neoplasias Renales/complicaciones , Rasgo Drepanocítico/complicaciones , Adolescente , Carcinoma Medular/mortalidad , Niño , Femenino , Humanos , Neoplasias Renales/mortalidad , Masculino , Persona de Mediana Edad , Rasgo Drepanocítico/mortalidad , Rasgo Drepanocítico/patología , Adulto JovenRESUMEN
Renal medullary carcinoma (RMC) is a highly aggressive malignancy that predominantly afflicts young adults and adolescents with sickle hemoglobinopathies. It is characterized by complete loss of expression of the chromatin remodeler and tumor suppressor SMARCB1 Despite therapy, the outcomes of patients with RMC remain very poor, highlighting the need to understand the etiology of this cancer, and develop new diagnostic, preventive, and therapeutic strategies. A key knowledge gap in RMC biology is why sickle hemoglobinopathies predispose to the development of this cancer. We propose a model wherein the extreme conditions of hypoxia and hypertonicity of the renal medulla, combined with regional ischemia induced by red blood cell sickling, activate DNA repair mechanisms to drive deletions and translocations in SMARCB1, which is localized in a fragile region of chromosome 22. This mechanism would explain the linkage between RMC and sickle hemoglobinopathies, as well as the age dependence and predilection of RMC toward the right kidney.Significance: This perspective proposes an integrated and testable model of renal medullary carcinoma pathogenesis. Insights provided by this model can additionally inform other malignancies arising from the renal medulla and/or associated with loss of the SMARCB1 tumor suppressor gene. Clin Cancer Res; 24(9); 2044-9. ©2018 AACR.
Asunto(s)
Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/genética , Carcinoma Medular/complicaciones , Carcinoma Medular/genética , Carcinoma de Células Renales/complicaciones , Carcinoma de Células Renales/genética , Proteína SMARCB1/genética , Anemia de Células Falciformes/diagnóstico , Animales , Biomarcadores , Carcinoma Medular/diagnóstico , Carcinoma de Células Renales/diagnóstico , Transformación Celular Neoplásica , Mapeo Cromosómico , Susceptibilidad a Enfermedades , Eliminación de Gen , Humanos , Hipoxia/genética , Hipoxia/metabolismo , Presión OsmóticaAsunto(s)
Carcinoma Medular/secundario , Diarrea/etiología , Neoplasias de la Tiroides/diagnóstico , Adulto , Biomarcadores de Tumor/sangre , Calcitonina/sangre , Antígeno Carcinoembrionario/sangre , Carcinoma Medular/sangre , Carcinoma Medular/complicaciones , Carcinoma Medular/diagnóstico por imagen , Enfermedad Crónica , Humanos , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/secundario , Masculino , Proteínas de Neoplasias/sangre , Proteínas de Neoplasias/genética , Proteínas Proto-Oncogénicas c-ret/genética , Neoplasias de la Tiroides/sangre , Neoplasias de la Tiroides/diagnóstico por imagen , Tomografía Computarizada por Rayos XAsunto(s)
Carcinoma Medular/complicaciones , Carcinoma Medular/diagnóstico por imagen , Neoplasias Renales/complicaciones , Neoplasias Renales/diagnóstico por imagen , Rasgo Drepanocítico/complicaciones , Rasgo Drepanocítico/diagnóstico por imagen , Adolescente , Carcinoma Medular/patología , Femenino , Humanos , Neoplasias Renales/patología , Masculino , Rasgo Drepanocítico/patología , Adulto JovenAsunto(s)
Dolor Abdominal/diagnóstico , Calbindina 2/análisis , Carcinoma Medular , Colectomía/métodos , Neoplasias del Colon , Obstrucción Intestinal , Intususcepción , Homólogo 1 de la Proteína MutL/análisis , Proteína 2 Homóloga a MutS/análisis , Dolor Abdominal/etiología , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Carcinoma Medular/complicaciones , Carcinoma Medular/metabolismo , Carcinoma Medular/patología , Neoplasias del Colon/complicaciones , Neoplasias del Colon/metabolismo , Neoplasias del Colon/patología , Femenino , Humanos , Obstrucción Intestinal/diagnóstico por imagen , Obstrucción Intestinal/etiología , Intususcepción/diagnóstico por imagen , Intususcepción/etiología , Intususcepción/cirugía , Tomografía Computarizada por Rayos X/métodosRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Adulto , Neoplasias de la Tiroides/complicaciones , Carcinoma Medular/complicaciones , Síndrome de Birt-Hogg-Dubé/complicaciones , Enfermedades Genéticas Congénitas/diagnósticoRESUMEN
Renal medullary carcinoma (RMC) is a rare but highly aggressive neoplasm that primarily affects young African Americans with sickle cell trait. Most patients present with macroscopic hematuria and have metastases at diagnosis. Chemotherapy, biologics directed against the more common renal cell carcinomas and radiation have all shown limited efficacy in treating patients with advanced RMC. We report two patients with RMC. Both had Stage IV disease. One underwent radical nephrectomy followed by radiation and biologic drug therapy but died five months later; the other underwent multiple cycles of chemotherapy plus anti-angiogenesis treatment but died 15 months after diagnosis. Review of the literature suggests that early diagnosis and surgical intervention while the tumor is confined to the kidney offer the best prospect for long term survival. Since newborn screening for sickle cell is now mandated in the US, the at-risk population for RMC could be identified and followed by yearly urine dipstick testing for microscopic hematuria. Those who test positive can be further evaluated to rule out RMC.
Asunto(s)
Inhibidores de la Angiogénesis/administración & dosificación , Antineoplásicos/administración & dosificación , Carcinoma Medular , Carcinoma de Células Renales , Hematuria/diagnóstico , Neoplasias Renales , Nefrectomía/métodos , Radioterapia/métodos , Rasgo Drepanocítico , Adulto , Carcinoma Medular/complicaciones , Carcinoma Medular/patología , Carcinoma Medular/terapia , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/terapia , Detección Precoz del Cáncer , Resultado Fatal , Femenino , Humanos , Neoplasias Renales/patología , Neoplasias Renales/terapia , Masculino , Estadificación de Neoplasias , Pronóstico , Rasgo Drepanocítico/complicaciones , Rasgo Drepanocítico/diagnóstico , Rasgo Drepanocítico/orinaRESUMEN
Los tumores sincrónicos se definen como tumores que se presentan dentro de un período de 6 meses del diagnóstico del primer tumor. Presentamos a un paciente varón de 65 años, fumador con carcinoma de laringe invasivo. Se realiza una laringectomía radical con vaciamiento cervical bilateral y hemitiroidectomía izquierda ante sospecha de posible extensión de la lesión laríngea. La literatura recoge algunos casos de carcinomas de laringe sincrónicos con carcinoma de tiroides, siendo en la mayor parte de los casos asociado a un carcinoma papilar de tiroides en varones de entre 47 y 62 años. Nosotros presentamos un caso de carcinoma laríngeo invasivo de células escamosas sincrónico con un carcinoma medular de tiroides y ganglios cervicales positivos para metástasis de carcinoma epidermoide, del que se conocen muy pocos casos en la literatura (AU)
Synchronous tumours are defined as those presenting within 6 months subsequent to the diagnosis of the primary tumour. We present a case of invasive laryngeal carcinoma in a 65 year old male smoker who underwent radical laryngectomy with bilateral cervical dissection and hemi-thyroidectomy due to suspicion of tumour invasion. There are a few case reports of laryngeal carcinoma synchronous with thyroid carcinoma, the majority being papillary thyroid carcinoma in males aged between 47 and 62. We present a case of invasive squamous cell laryngeal carcinoma synchronous with thyroid medullary carcinoma and cervical lymph glands positive for metastases from epidermoide carcinoma (AU)
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Carcinoma Medular/complicaciones , Carcinoma Medular/diagnóstico , Carcinoma Medular/patología , Neoplasias Laríngeas/patología , Neoplasias de la Tiroides/patología , Laringectomía/métodos , Tiroidectomía/métodos , Inmunohistoquímica/métodosRESUMEN
Thyroid cancer, the most common endocrine neoplasia, consists of four main types of carcinomas: papillary, follicular, and anaplastic, all with thyroid follicular origin, and medullary thyroid cancer (MTC) related to para-follicular cells. Cronic diseases such as diverse cancers may be associated with cachexia, especially at advanced stage. Cancer-induced cachexia is associated with diminished quality of life, functional performance, reduced response to antitumor therapy, and increased morbidity and mortality. Myostatin (Mst) is one of the outstanding molecules in the skeletal muscle loss process in cancer and it may be released by both skeletal muscle and cachexia-inducing tumors. Recently changes in serum levels of Mst have been identified as an important factor of cancer-induced cachexia. The goal of this study was to assessserum Mst levels in MTC patients. In this descriptive and case-control study, 90 participants were selected, comprising 45 MTC patients (20 males, 29±13.9 years, 25 females, 29±14.5 years) and 45 control individuals (25 males, 23.1±11.6 years, 20 females, 31.5±14.4 years). Serum Mst was determined using an ELISA kit and body mass index (BMI) was calculated by weight and height measurements. The Kolmogorov Simonov test showed a normal distribution for log transformed Mst serum levels in both case and control groups. Geometric means were 5.9 and 8.2 ng/ml respectively, and a significant difference was found according to the independent t-test results (P<0.01) . There was also a significant difference mean of Mst between females in control and MTC groups, but not for the males. Pearson correlation test showed no correlation between age and BMI with Mst serum levels. The findings of this study support the hypothesis that Mst serum levels may have a potential ability for early diagnosis of cachexia in MTC patients, especially in females.
Asunto(s)
Biomarcadores de Tumor/sangre , Caquexia/diagnóstico , Carcinoma Medular/complicaciones , Miostatina/sangre , Glándula Tiroides/metabolismo , Neoplasias de la Tiroides/complicaciones , Adulto , Caquexia/sangre , Caquexia/etiología , Caquexia/prevención & control , Carcinoma Medular/patología , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Pronóstico , Calidad de Vida , Neoplasias de la Tiroides/patología , Adulto JovenRESUMEN
BACKGROUND: Normalization of cortisol concentration by multikinase inhibitors have been reported in three patients with medullary thyroid cancer-related Cushing's syndrome. Aortic dissection has been reported in three patients with Cushing's syndrome. Diabetes insipidus without intrasellar metastasis, intestinal intussusception, and paraneoplastic dysautonomia have not been reported in medullary thyroid cancer. CASE PRESENTATION: An adult male with metastatic medullary thyroid cancer presented with hyperglycemia, hypernatremia, hypokalemia, hypertension, acne-like rash, and diabetes insipidus (urine volume >8 L/d, osmolality 190 mOsm/kg). Serum cortisol, adrenocorticoitropic hormone, dehydroepiandrostenedione sulfate, and urinary free cortisol were elevated 8, 20, 4.4, and 340 folds, respectively. Pituitary imaging was normal. Computed tomography scan revealed jejunal intussusception and incidental abdominal aortic dissection. Sorafenib treatment was associated with Cushing's syndrome remission, elevated progesterone (>10 fold), normalization of dehydroepiandrostenedione sulfate, but persistently elevated cortisol concentration. Newly-developed proximal lower limb weakness and decreased salivation were associated with elevated ganglionic neuronal acetylcholine receptor (alpha-3) and borderline P/Q type calcium channel antibodies. CONCLUSION: Extreme cortisol concentration may have contributed to aortic dissection and suppressed antidiuretic hormone secretion; which combined with hypokalemia due cortisol activation of mineralocorticoid receptors, manifested as diabetes insipidus. This is the first report of paraneoplastic dysautonomia and jejunal intussusception in medullary thyroid cancer, they may be related to medullary thyroid cancer's neuroendocrine origin and metastasis, respectively. Remission of Cushing's syndrome without measurable reduction in cortisol concentration suggests a novel cortisol-independent mechanism of action or assay cross-reactivity. Normalization of dehydroepiandrostenedione sulfate and elevation of progesterone suggest inhibition of 17-hydroxylase and 21-hydroxylase activities by sorafenib.
Asunto(s)
Aneurisma de la Aorta/etiología , Disección Aórtica/etiología , Carcinoma Medular/complicaciones , Síndrome de Cushing/etiología , Diabetes Insípida/etiología , Intususcepción/etiología , Enfermedades del Yeyuno/etiología , Polineuropatía Paraneoplásica/etiología , Disautonomías Primarias/etiología , Neoplasias de la Tiroides/complicaciones , Adulto , Antineoplásicos/uso terapéutico , Carcinoma Medular/tratamiento farmacológico , Síndrome de Cushing/tratamiento farmacológico , Resultado Fatal , Humanos , Hidrocortisona/sangre , Masculino , Niacinamida/análogos & derivados , Niacinamida/uso terapéutico , Compuestos de Fenilurea/uso terapéutico , Sorafenib , Neoplasias de la Tiroides/tratamiento farmacológicoAsunto(s)
Humanos , Masculino , Adulto Joven , Carcinoma Medular/complicaciones , Carcinoma Medular , Diagnóstico Diferencial , Hematuria/complicaciones , Hematuria , Tomografía Computarizada de Emisión/métodos , Tomografía Computarizada de Emisión , Tomografía Computarizada por Rayos X , Neoplasias Renales/complicaciones , Neoplasias Renales , Tumor Rabdoide/complicaciones , Tumor RabdoideRESUMEN
INTRODUCTION: Medullary thyroid cancer (MTC)-related diarrhea can be debilitating, reduces quality of life (QOL), and may be the only indication for initiating systemic therapy. Conventional antidiarrheal drugs are not always helpful and may have side effects. Calcium aluminosilicate antidiarrheal (CASAD), a natural calcium montmorrilonite clay, safely adsorbs toxins and inflammatory proteins associated with diarrhea. It was hypothesized that CASAD would reduce the severity of diarrhea and improve QOL in MTC patients. METHODS: This was a prospective pilot trial (NCT01739634) of MTC patients not on systemic therapy with self-reported diarrhea of three or more bowel movements (BMs) per day for a week or more. The study design included a one-week run-in period followed by one week of CASAD ± a two-week optional continuation period. The primary endpoint was efficacy of one week of CASAD treatment in decreasing the number of BMs per day by ≥20% when compared with the baseline run-in period. Secondary objectives included tolerability and safety and the impact on QOL using the MD Anderson Symptom Inventory-Thyroid questionnaire (MDASI-THY). RESULTS: Ten MTC patients (median age = 52 years, 70% female, 80% white) were enrolled. All had distant metastases, and median calcitonin was 5088 ng/mL (range 1817-42,007 ng/mL). Ninety percent had received prior antidiarrheals, and 40% of these had used two or more drugs, including tincture of opium (30%), loperamide (50%), diphenoxylate/atropine (20%), colestipol (10%), or cholestyramine (10%). Of seven evaluable patients, four (56%) had ≥20% reduction in BMs per day. Six out of seven patients discontinued their prior antidiarrheals. Best response ranged from 7% to 99% reduction in mean BMs/day from baseline. Five out of seven patients considered CASAD a success, and they opted for the two-week continuation period. Improvements in diarrhea and all six interference items assessed by MDASI-THY were noted at weeks 1 and 3. Total interference score was significantly improved at three weeks compared with baseline (p = 0.05). An oral levothyroxine absorption test was performed in one patient; malabsorption of levothyroxine was not observed. Adverse events included flatulence (40%), bloating (10%), heartburn (10%), and constipation (10%). CONCLUSIONS: CASAD is a promising strategy for treatment of MTC-related diarrhea. In this small pilot study, improvements in frequency and quality of diarrhea as well as QOL were noted. Further studies in this population are warranted.
Asunto(s)
Silicatos de Aluminio/uso terapéutico , Antidiarreicos/uso terapéutico , Carcinoma Medular/complicaciones , Diarrea/tratamiento farmacológico , Neoplasias de la Tiroides/complicaciones , Adulto , Anciano , Arcilla , Diarrea/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Estudios Prospectivos , Calidad de Vida , Resultado del TratamientoAsunto(s)
Neoplasias Óseas/secundario , Carcinoma Medular/diagnóstico , Carcinoma Medular/secundario , Húmero , Neoplasias Renales/diagnóstico , Neoplasias Renales/patología , Adulto , Negro o Afroamericano , Brazo , Neoplasias Óseas/complicaciones , Carcinoma Medular/complicaciones , Femenino , Humanos , Dolor/etiologíaRESUMEN
Renal medullary carcinoma (RMC) is a rare tumor, originating in the epithelial papillary cells, that primarily affects young black men with sickle cell trait. We report the case of a 29-year-old Caucasian woman, who at ultrasound showed a cystic mass at the right kidney, with a vascular pattern at the level of the cystic wall. A CT-guided biopsy of the lesion was performed, revealing the presence of unspecified tumor cells. A total nephrectomy was then performed. Microscopically, a tumor resulting from the epithelial papillary cells was observed; several areas of lymphoplasmacytic infiltrates were seen at the junction between the normal kidney tissue and the tumor, and a renal medullary carcinoma was diagnosed. Six months later, the patient developed multiple pulmonary metastases and started chemotherapy with Carboplatin, Paclitaxel and Gemcitabine. The patient died after 27 months of follow-up.RMC is a tumor that usually occurs in young black men, at an average age of 25 years with extremes of 11 and 39 years. Sickle-cell disease or sickle-cell trait is often present. The longest documented survival (until now) for RMC was 16 months. The best treatment is surgery with enlarged nephrectomy. There are still no appropriate chemotherapy protocols.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carcinoma Medular/terapia , Enfermedades Renales Quísticas/etiología , Enfermedades Renales Quísticas/terapia , Neoplasias Renales/terapia , Neoplasias Pulmonares/terapia , Nefrectomía , Adulto , Carboplatino/administración & dosificación , Carcinoma Medular/complicaciones , Carcinoma Medular/diagnóstico por imagen , Carcinoma Medular/secundario , Desoxicitidina/administración & dosificación , Desoxicitidina/análogos & derivados , Progresión de la Enfermedad , Resultado Fatal , Femenino , Humanos , Enfermedades Renales Quísticas/diagnóstico por imagen , Neoplasias Renales/complicaciones , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/secundario , Nefrectomía/métodos , Paclitaxel/administración & dosificación , Factores de Riesgo , GemcitabinaRESUMEN
Thyroid cancer (TC) is the most common type of endocrine malignancy and accounts for nearly 3 % of all malignancies. The incidence of TC in Spain was 5/100,000 in women and 1.9/100,000 in men in 2013. The diagnosis of TC usually follows the identification of a thyroid nodule on physical examination or as an incidental finding on diagnostic imaging performed for other reasons. In most of the cases, the prognosis is excellent but despite low mortality rates, local recurrence occurs in up to 20 %, and distant metastases can occur in approximately 10 % at 10 years. The better knowledge of molecular biology of TC has allowed to the development of new targeted agents directed to the main pathways involved in TC pathogenesis. Knowing all these new strategies will help us face the therapeutic management of TC more effectively (AU)
No disponible
Asunto(s)
Humanos , Masculino , Femenino , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/tratamiento farmacológico , Carcinoma/diagnóstico , Carcinoma/tratamiento farmacológico , Tiroidectomía/métodos , Tiroidectomía , Yodo/uso terapéutico , Terapia Neoadyuvante/métodos , Terapia Neoadyuvante , Glándula Tiroides , Glándula Tiroides/patología , Glándula Tiroides , Neoplasias de las Glándulas Endocrinas/diagnóstico , Neoplasias de las Glándulas Endocrinas/terapia , Pronóstico , Carcinoma Medular/complicaciones , Inmunohistoquímica/métodos , InmunohistoquímicaRESUMEN
Medullary carcinoma is a recently recognized rare subtype of colorectal cancer resembling both poorly differentiated adenocarcinoma and neuroendocrine tumors. Medullary carcinoma most commonly presents in the proximal colon and can be differentiated from other right-sided malignant lesions by histology and immunochemical markers. We present here a rare case of an adult patient with rectal bleeding who was found to have an intussusception due to underlying medullary carcinoma of the splenic flexure. A 72-year-old woman presented to our GI clinic with rectal bleeding. Colonoscopy revealed a necrotic mass of the sigmoid colon, later determined by CT to be a colo-colonic intussusception at the level of the splenic flexure. Patient underwent diagnostic laparoscopy with findings of a large splenic flexure mass, which was resected and found to be medullary carcinoma of the colon. The tumor was poorly differentiated and exhibited microsatellite instability but was discovered at an early stage and thus did not require any adjuvant chemotherapy. Unlike most previously reported cases of medullary carcinoma, our patient presented with a left sided tumor. To our knowledge, this is the first report of a medullary colon cancer presenting with intussusception.
Asunto(s)
Carcinoma Medular/diagnóstico , Hemorragia Gastrointestinal/etiología , Intususcepción/etiología , Neoplasias del Colon Sigmoide/diagnóstico , Anciano , Carcinoma Medular/complicaciones , Carcinoma Medular/cirugía , Colonoscopía , Femenino , Humanos , Recto , Neoplasias del Colon Sigmoide/complicaciones , Neoplasias del Colon Sigmoide/cirugíaRESUMEN
BACKGROUND: The purpose of this study was to investigate the association between chronic lymphocytic thyroiditis (CLT) and malignant tumors of the thyroid. METHODS: A retrospective review of 647 patients who underwent thyroid surgery at the Department of Breast and Thyroid Surgery in Anhui Provincial Hospital, China in 2012 was performed. The clinicopathological characteristics of patients with thyroid malignancies and CLT were collected. CLT was diagnosed by histopathological method. RESULTS: Among 647 patients, 144 patients had thyroid malignancies and 108 patients had been diagnosed with CLT. Moreover, in total, 44 patients had thyroid malignancies coexistent with CLT: forty-one (93.2%) patients had been diagnosed with the papillary thyroid cancer (PTC); two (4.5%) patients suffered from medullary carcinoma; and one (2.3%) patient suffered from lymphoma. The morbidity of thyroid malignancies in patients with CLT was significantly higher than that in patients without CLT (40.7% versus 18.6%; P <0.001). A female preponderance was observed in the patients with CLT compared with those without CLT (P <0.001). There was no statistically significant difference in the tumor size (P = 0.073), multifocality (P = 0.0871), neck lymph node metastasis (P = 0.350), age (P = 0.316), microcarcinoma (P = 0.983) and tumor-node-metastasis (TNM) stage (P = 0.949) between the patients of thyroid malignancies with CLT and without CLT. CONCLUSIONS: Female predominance was observed in patients with CLT. CLT may have no effect on the progression of thyroid malignant tumor. Nevertheless, the influences of CLT on the prognosis of the thyroid carcinoma still need to be investigated with a larger sample size.
Asunto(s)
Carcinoma Medular/diagnóstico , Carcinoma Papilar/diagnóstico , Enfermedad de Hashimoto/diagnóstico , Neoplasias de la Tiroides/diagnóstico , Adulto , Carcinoma Medular/complicaciones , Carcinoma Medular/cirugía , Carcinoma Papilar/complicaciones , Carcinoma Papilar/cirugía , Femenino , Estudios de Seguimiento , Enfermedad de Hashimoto/complicaciones , Enfermedad de Hashimoto/cirugía , Humanos , Metástasis Linfática , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Pronóstico , Estudios Retrospectivos , Neoplasias de la Tiroides/complicaciones , Neoplasias de la Tiroides/cirugía , TiroidectomíaRESUMEN
Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease that has highly characteristic clinical features, including medullary thyroid carcinoma (MTC). Mutation of the RET proto-oncogene is known to be responsible for development of FMTC and for multiple endocrine neoplasia types 2A and 2B. Hirschsprung's disease is the most common form of structural intestinal obstructive disease in human newborns. Hirschsprung's disease is defined by the absence of neural crest-derived enteric ganglia along a variable length of the bowel that invariably involves the rectoanal junction. Co-segregation of FMTC and Hirschsprung's disease is uncommon; nevertheless, in 3 generations of 1 family, we observed 5 patients with FMTC, 2 patients with Hirschsprung's disease, and 1 patient with characteristics of both FMTC and Hirschsprung's disease. Moreover, a Cys620Ser mutation in RET was identified in 4 of the 8 patients. This mutation had both activating and inactivating effects on the RET (REarranged during Transfection) protein. There were individual differences in the penetrance of Hirschsprung's disease due to the RET mutation, but the penetrance of MTC was uniform and high. Genetic testing is important for making decisions about treatment and follow-up in families of this kind.