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1.
Arch. endocrinol. metab. (Online) ; 68: e230152, 2024. tab, graf
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1556928

Résumé

ABSTRACT Objective: Although 18F-sodium fluoride (18F-NaF) uptake is frequently observed in extraosseous metastases of medullary thyroid carcinoma (MTC) with calcification, it can also occur in metastatic sites without visible calcium deposition, leading to the hypothesis that visually undetectable calcium accumulation may be responsible for this uptake. The aim of this study was to indirectly support this hypothesis by analyzing the correlation between the degree of 18F-NaF uptake and radiodensity in extraosseous MTC metastases, since calcium deposition can increase attenuation even when not visually detectable. Subjects and methods: Extraosseous metastatic lesions of 15 patients with MTC were evaluated using 18F-NaF positron-emission tomography (PET)/computed tomography (CT) and segmented by levels of standardized uptake value (SUV). The correlation between mean SUV and mean Hounsfield unit (HU) values was assessed for the entire group of segments and for two subgroups with different mean HU values. Results: Very high correlations were observed between mean SUV and mean HU values for both the entire group of segments and the subgroup with a mean HU value greater than 130 (p = 0.92 and p = 0.95, respectively; p < 0.01). High correlation (p = 0.71) was also observed in the subgroup with mean HU values ranging from 20 to 130 (p < 0.01). Conclusion: The findings of the present study suggest that there is an association between 18F-NaF uptake and calcium deposition in extraosseous metastases of MTC, supporting the hypothesis that visually undetectable calcium accumulation may be responsible for 18F-NaF uptake in regions without visible calcium deposition.

2.
Arch. endocrinol. metab. (Online) ; 67(4): e000607, Mar.-Apr. 2023. tab
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1439229

Résumé

ABSTRACT Objective: The purpose of these guidelines is to provide specific recommendations for the surgical treatment of neck metastases in patients with papillary, follicular, and medullary thyroid carcinomas. Materials and methods: Recommendations were developed based on research of scientific articles (preferentially meta-analyses) and guidelines issued by international medical specialty societies. The American College of Physicians' Guideline Grading System was used to determine the levels of evidence and grades of recommendations. The following questions were answered: A) Is elective neck dissection indicated in the treatment of papillary, follicular, and medullary thyroid carcinoma? B) When should central, lateral, and modified radical neck dissection be performed? C) Could molecular tests guide the extent of the neck dissection? Results/conclusion: Recommendation 1: Elective central neck dissection is not indicated in patients with cN0 well-differentiated thyroid carcinoma or in those with noninvasive T1 and T2 tumors but may be considered in T3-T4 tumors or in the presence of metastases in the lateral neck compartments. Recommendation 2: Elective central neck dissection is recommended in medullary thyroid carcinoma. Recommendation 3: Selective neck dissection of levels II-V should be indicated to treat neck metastases in papillary thyroid cancer, an approach that decreases the risk of recurrence and mortality. Recommendation 4: Compartmental neck dissection is indicated in the treatment of lymph node recurrence after elective or therapeutic neck dissection; "berry node picking" is not recommended. Recommendation 5: There are currently no recommendations regarding the use of molecular tests in guiding the extent of neck dissection in thyroid cancer.

3.
Chinese Journal of Oncology ; (12): 433-437, 2023.
Article Dans Chinois | WPRIM | ID: wpr-984740

Résumé

Objective: To investigate the feasibility and value of histogram analysis based on two-dimensional gray-scale ultrasonography in the differential diagnosis of medullary thyroid carcinoma (MTC) and thyroid adenoma (TA). Methods: The preoperative ultrasound images of 86 newly diagnosed MTC patients and 100 TA patients treated in the Cancer Hospital of Chinese Academy of Medical Sciences from January 2015 to October 2021 were collected. Histograms were performed based on the regions of interest (ROIs) delineated manually by two radiologists, thereafter, mean, variance, skewness, kurtosis, percentiles (1st, 10th, 50th, 90th, 99th) were generated. The histogram parameters between the MTC group and the TA group were compared, and the independent predictors were screened by multivariate logistic regression analysis. Receiver operating characteristic (ROC) analysis was used to compare the individual diagnostic efficacy and joint diagnostic efficacy of independent predictors. Results: Multivariate regression analysis showed that mean, skewness, kurtosis and 50th percentile were independent factors. The skewness and kurtosis in the MTC group were significantly higher than those in the TA group, and the mean and 50th percentile were significantly lower than those in the TA group. The area under the individual ROC curve of mean, skewness, kurtosis and 50th percentile is 0.654-0.778. The area under the combined ROC curve is 0.826. Conclusion: Histogram analysis based on two-dimensional gray-scale ultrasonography is a promising tool to distinguish MTC from TA, in which the joint diagnosis value of mean, skewness, kurtosis and 50th percentile is the highest.


Sujets)
Humains , Courbe ROC , Diagnostic différentiel , Études rétrospectives , Tumeurs de la thyroïde/imagerie diagnostique , Échographie , Imagerie par résonance magnétique de diffusion/méthodes
4.
Chinese Journal of Endocrine Surgery ; (6): 253-255, 2023.
Article Dans Chinois | WPRIM | ID: wpr-989936

Résumé

Thyroid cancer is the most common malignant tumor of the endocrine system, and its incidence is increasing year by year showing younger trend. The pathological types of thyroid cancer are papillary carcinoma, follicular carcinoma, medullary carcinoma and undifferentiated carcinoma. Medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) are the two common types of thyroid cancer. Since MTC and PTC have different biological origins, invasiveness and prognosis. Therefore, the occurrence of both medullary carcinoma and papillary carcinoma is very rare and rarely reported in China and abroad and the treatment is challenging. In this paper, we review the pathogenesis, ancillary tests, diagnosis and treatment of this disease, with the aim of providing reference for clinical treatment of patients with medullary thyroid carcinoma complicated by papillary carcinoma.

5.
Article | IMSEAR | ID: sea-217117

Résumé

Medullary thyroid carcinoma is a rare malignancy. We report a case of Medullary thyroid carcinoma in a 56-year-old male patient. Patient presented with lower limb paresis and severe hypokalemia. Cushing’s syndrome is a rare complication of Medullary thyroid carcinoma [MTC] and is due to ectopic Adrenocorticotropic [ACTH] secretion by tumor cells. Cushing’s syndrome presents a challenging diagnostic and management issue in patients with MTC. Entire clinical history, laboratory investigations, microscopic pictures are discussed in detail.

6.
Chinese Journal of Endocrine Surgery ; (6): 12-17, 2022.
Article Dans Chinois | WPRIM | ID: wpr-930303

Résumé

Objective:To investigate the risk factors of cervical lymph node metastasis (LNM) and survival analysis in patients with medullary thyroid carcinoma (MTC) .Methods:93 patients with MTC admitted to the Department of General Surgery and Department of Otorhinolaryngology, First Medical Center of PLA General Hospital from Sep. 2008 to Aug. 2020 were analyzed retrospectively, including 45 males and 48 females, with an average age of 47 years old. SPSS 26.0 statistical software was used for data processing of the initial surgical year and procedures, tumor pathological stages, preoperative calcitonin (Ctn) level, preoperative carcinoembryonic antigen (CEA) level, LNM status, recurrence free survival (RFS) , etc. The risk factors of LNM and prognosis of MTC patients were analyzed by COX univariate and multivariate regression. Kaplan Meier method was used to estimate the survival rates of independent risk factors affecting prognosis and draw their survival curves.Results:The median follow-up time of 93 patients was 53 months, ranging from 2 to 192 months. The 1-year, 3-year, 5-year and 10-year survival rates were 97.8%, 96.6%, 94.6% and 88.9% respectively. Multivariate COX regression analysis showed that Initial surgical procedures ( P=0.018) and preoperative Ctn level ( P=0.012) were independent risk factors of central cervical LNM. Preoperative Ctn level ( P=0.028) and Capsule invasion ( P=0.024) were the independent risk factors of lateral cervical LNM. Preoperative Ctn level≥180.30 pg/ml and ≥234.15pg/ml indicated central and lateral cervical LNM respectively (all P<0.001) . Distant metastasis was an independent risk factor of RFS ( P=0.037) of MTC. Conclusions:Standardized surgical procedures are recommended for initial treatment of MTC, which can reduce the possibility of residual occult metastasis and the risk of reoperation. Distant metastasis affects prognosis of MTC.

7.
Journal of Xi'an Jiaotong University(Medical Sciences) ; (6): 566-573, 2022.
Article Dans Chinois | WPRIM | ID: wpr-1011545

Résumé

【Objective】 To investigate the clinical features and gene analysis of one pedigree with multiple endocrine neoplasia type 2A (MEN2A) so as to clarify the diagnosis and classification of the disease, guide treatment and prevention, and improve prognosis. 【Methods】 The clinical data of a 36-member MEN2A family, including 6 probands, with medullary thyroid carcinoma, were investigated, and the peripheral blood genomic DNA of 28 family members (blood sample of one proband was not collected) was extracted. PCR amplification was performed on exons 8, 10, 11, 13, 14, 15 and 16 of the RET gene, and the products were directly sequenced. 【Results】 Review of the medical history showed that two probands with medullary thyroid carcinoma were accompanied with hyperparathyroidism, and one family member had pheochromocytoma. The RET gene mutation test confirmed that 13 family members, consisting of 5 probands and 8 family members, had the RET proto-oncogene exon 10 missense mutation. The heterozygous missense had mutation c.1852T>A, leading to the conversion of cysteine (TGC) at position 618 to serine (AGC) (Cys618Ser). All subjects carrying RET gene Cys618Ser mutation had abnormal thyroid ultrasound change, accompanied with elevated calcitonin levels. Subjects carrying wild type of RET gene had normal calcitonin levels. The family was finally diagnosed with MEN2A by RET gene detection. 【Conclusion】 RET gene detection plays key role in the diagnosis and treatment of patients with MEN2A family and has guiding value in the follow-up and prognosis of asymptomatic carriers. There is a positive correlation between calcitonin level and the RET protooncogene mutation Cys618Ser. Patients suspected of MEN2A should be screened in time.

8.
Rev. cuba. cir ; 60(4)dic. 2021.
Article Dans Espagnol | LILACS, CUMED | ID: biblio-1408217

Résumé

Introducción: El carcinoma medular de tiroides, representa aproximadamente entre el 5 - 10 por ciento de todos los carcinomas tiroideos, aparece con más frecuencia entre los 25 y 60 años y en el sexo femenino. Se distinguen dos tipos: el esporádico (no hereditario) y el familiar (hereditario). La localización más frecuente es la unión del tercio superior de lóbulo tiroideo con el tercio medio, que es la zona de mayor concentración de células C. Objetivo: Presentar el caso de paciente masculino operado de carcinoma medular de tiroides, tipo esporádico, en la provincia de Cienfuegos. Caso clínico: Paciente masculino de 60 años de edad, piel blanca, que acudió a la consulta; refiere aumento de volumen del cuello acompañado de disfonía y disfagia a los alimentos sólidos. Al examen físico se constató la presencia del nódulo tiroideo. Se le realizó ultrasonido que corrobora la presencia de un nódulo en el lóbulo derecho del tiroides. La biopsia por aspiración con aguja fina informó el nódulo como sospechoso de malignidad. Se le realizó tiroidectomía total, informándose por la biopsia por parafina de la pieza como un carcinoma medular del tiroides. En la actualidad lleva 6 meses de operado con evolución favorable. Conclusiones: El carcinoma medular de tiroides constituye una entidad rara y agresiva más frecuente en los pacientes mayores de 45 años, cuyo tratamiento de elección es la cirugía(AU)


Introduction: Medullary thyroid carcinoma accounts for approximately 5-10 percent of all thyroid carcinomas. It appears more frequently at ages 25-60 years and in females. Two types are distinguished: sporadic (nonhereditary) and familial (hereditary). The most common location is the union of the upper third of the thyroid lobe to the middle third, the area with the highest concentration of C cells. Objective: To present the case of a male patient operated on for medullary thyroid carcinoma, of sporadic type, in the Cienfuegos Province. Clinical case: A 60-year-old male patient of white skin attended consultation. He reported an increase in neck volume accompanied by dysphonia and dysphagia for solid food. The physical examination revealed the presence of the thyroid nodule. Ultrasound was performed, which confirmed the presence of a nodule in the right lobe of the thyroid. Fine needle aspiration biopsy reported the nodule as suspicious for malignancy. A total thyroidectomy was performed, after which, paraffin biopsy of the specimen permitted to report a medullary carcinoma of the thyroid. At present, he has been operating for six months, with favorable evolution. Conclusions: Medullary thyroid carcinoma is a rare and aggressive entity, more frequent in patients over 45 years of age, whose treatment of choice is surgery(AU)


Sujets)
Humains , Mâle , Adulte d'âge moyen , Thyroïdectomie/méthodes , Tumeurs de la thyroïde/étiologie , Carcinome médullaire/épidémiologie , Cytoponction , Sélection du Site de Traitement des Déchets , Rapport de recherche
9.
Arch. endocrinol. metab. (Online) ; 65(1): 40-48, Jan.-Feb. 2021. tab, graf
Article Dans Anglais | LILACS | ID: biblio-1152889

Résumé

ABSTRACT Objective: To verify the cytopathological Bethesda System classification of thyroid nodule fine-needle aspiration biopsy (FNAB) in MTC patients and to assess the role of preoperative serum calcitonin (CT) levels in the investigation of this neoplasm in medullary thyroid cancer (MTC) patients under observation at the Uopeccan (União Oeste Paranaense de Estudos e Combate ao Câncer). Materials and methods: This is a cross-sectional review of medical records of patients monitored at the thyroid cancer outpatient clinic of Uopeccan. Clinical and demographic data, laboratory tests, ultrasound images, and cytopathological findings of MTC patients were evaluated. Results and discussion: Among the 360 patients with thyroid cancer monitored in the outpatient clinic, 5.2% (n: 19/360) had MTC. The hereditary form was more prevalent (63.2%), and there was no sex preference. The most common ultrasound findings were hypoechogenicity, solid appearance and microcalcifications. The FNAB diagnoses showed a sensitivity of 47.1%, and the most common cytopathological report was Bethesda category III. Serum CT levels showed good sensitivity (84.6%) for the diagnosis of MTC, and sensitivity levels were directly associated with the size of the nodule and distant metastases. Conclusion: Bethesda category III was more prevalent in this group of MTC patients. Serum CT levels were more sensitive than cytopathology for diagnosis of this neoplasm and were able to identify all patients who could not be diagnosed by FNAB.


Sujets)
Humains , Tumeurs de la thyroïde , Tumeurs de la thyroïde/chirurgie , Tumeurs de la thyroïde/diagnostic , Nodule thyroïdien , Nodule thyroïdien/imagerie diagnostique , Thyroïdectomie , Calcitonine , Études transversales , Cytoponction
10.
Chinese Journal of Endocrinology and Metabolism ; (12): 607-612, 2021.
Article Dans Chinois | WPRIM | ID: wpr-911366

Résumé

Objective:To investigate the pathogenesis of Cushing′s syndrome induced by medullary thyroid carcinoma.Methods:Started from April 2011 to present, three medullary thyroid carcinoma patients with Cushing′s syndrome were enrolled in this study. All patients were 40 to 50 years old, one female and two males. The blood pressure, blood glucose, thyroid function and antibodies, calcitonin, and carcinoembryonic antigen(CEA)were detected. The qualitative and localized diagnosis of Cushing′s syndrome was performed by high- and low-dose dexamethasone suppression tests as well as imaging examinations. The biopsies of all patients were taken to test the immunostaining of calcitonin, adrenocorticotropin(ACTH), and corticotropin-releasing hormone(CRH).Results:According to the clinical manifestation and function tests, three patients were diagnosed as medullary thyroid carcinoma accompanied by ACTH-dependent Cushing′s syndrome. All patients showed positive immunohistochemical staining of calcitonin and CRH, with negative immunostaining of ACTH in one and positive immunostaining of ACTH in two patients. Therefore, the diagnosis of ectopic CRH syndrome caused by medullary thyroid carcinoma was definite.Conclusions:Medullary thyroid carcinoma is a rare cause of Cushing′s syndrome. Tumor cells secrete ACTH and CRH, which in turn cause hypercorticoremia. Ectopic CRH syndrome is very rare. Early diagnosis can be made by immunohistochemical staining of biopsy tissues to guide early targeted treatment and improve the prognosis.

11.
Journal of Central South University(Medical Sciences) ; (12): 1261-1265, 2020.
Article Dans Anglais | WPRIM | ID: wpr-880595

Résumé

Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.


Sujets)
Enfant , Humains , Mâle , Tumeurs de la surrénale , Gènes , Néoplasie endocrinienne multiple , Néoplasie endocrinienne multiple de type 2a/génétique , Néoplasie endocrinienne multiple de type 2b/génétique , Mutation , Protéines proto-oncogènes c-ret/génétique , Tumeurs de la thyroïde/génétique
12.
Article | IMSEAR | ID: sea-209204

Résumé

Medullary thyroid carcinoma (MTC) constitutes around 5% of all thyroid cancers with a worse prognosis. It accounts for 13% ofthyroid cancer-related deaths. A 23-year-old male presented with a 4-year history of progressively increasing thyroid swellingwith similar family history. On examination, butterfly-shaped firm swelling of size 7 × 3 cm in the right and 7 × 4 cm in the leftseen on the anterior aspect of neck with regular margins and nodular surface moving with deglutition extending from the thyroidcartilage to clavicle head and laterally beyond the sternocleidomastoid into the posterior triangle muscle. Pemberton’s signwas negative. Computed tomography neck showed enlarged both thyroid lobes with areas of cystic degeneration and 15 mmretrosternal extension of the left lobe of thyroid with bilateral IB, II, and V lymphadenopathy. Serum calcitonin level was 4435 pg/ml.Fine-needle aspiration cytology favored features of MTC. Total thyroidectomy with central compartment neck dissection wasdone. Intraoperative frozen sections of bilateral level III were found to be tumor free, so proceeded with thyroid excision andcentral compartment neck dissection. Histopathology revealed MTC with bilateral multifocal capsular and lymphovascularinvasion and metastatic foci in the right central compartment lymph node. Hence, early diagnosis in family members offers ahigher likelihood of cure and long-term survival.

13.
Medicina (B.Aires) ; 79(4): 271-275, ago. 2019. tab
Article Dans Espagnol | LILACS | ID: biblio-1040520

Résumé

Existe mucha controversia sobre los beneficios de la medición de la calcitonina sérica (CT) durante la evaluación inicial de pacientes con nódulos tiroideos. El objetivo del estudio fue evaluar la identificación temprana del carcinoma medular de tiroides (CMT) a través de la medición rutinaria de CT sérica en una cohorte de Buenos Aires, Argentina. Se estudiaron consecutivamente a los pacientes con enfermedad nodular de la tiroides (n=1017). La CT se midió por quimioluminiscencia (valor normal: hasta 18 pg/ml en hombres y 12 pg/ml en mujeres). En dos pacientes, la hipercalcitoninemia se confirmó en mediciones repetidas. La aspiración con aguja fina con medición de CT en el líquido obtenido identificó la presencia del CMT. El estudio genético fue positivo en uno (mutación exón 14, Val804Met, CMT familiar). El otro presentó un polimorfismo (heterocigoto exón 13 L769L - heterocigoto exón 15 S904S). En ambos casos, la CT se normalizó 3 meses después de la cirugía y se mantuvo en valores normales después de 6 años de seguimiento. La medición rutinaria de la CT en nódulos tiroideos fue útil para detectar dos casos de CMT, uno de ellos esporádico y el otro familiar en la cohorte seguida. La prevalencia de CMT fue de 0.2%.


There is much controversy about the benefits of the use of serum calcitonin (CT) in the initial evaluation of patients with thyroid nodules. The objective of the study was to early identify medullary thyroid carcinoma (MTC) through the routine measurement of CT in thyroid nodular pathology in a large cohort of patients from Buenos Aires, Argentina. Consecutive patients with nodular thyroid disease (n=1017) were studied. CT was measured by chemiluminescence, normal value: up to 18 pg/ml in men and 12 pg/ml in women. In two patients, hypercalcitoninemia was confirmed in repeated measurements. Fine needle aspiration with CT measurement in the needle wash fluid identified MTC in nodules with citology abnormalities. The genetic study was positive in one patient (mutation exon 14, Val804Met, MTC familiar). The other presented a polymorphism (exon 13 L769L heterozygous - exon 15 S904S heterozygous). In both cases, CT was normalized 3 months after surgery and remained normal after 6 years of follow-up. The routine measurement of CT in thyroid nodular pathology was useful to detect two cases of MTC, one of them sporadic and the other familiar in this cohort. The prevalence of MTC was 0.2%.


Sujets)
Humains , Mâle , Femelle , Adolescent , Adulte , Adulte d'âge moyen , Sujet âgé , Sujet âgé de 80 ans ou plus , Jeune adulte , Calcitonine/sang , Tumeurs de la thyroïde/diagnostic , Nodule thyroïdien/anatomopathologie , Carcinome neuroendocrine/diagnostic , Tumeurs de la thyroïde/anatomopathologie , Tumeurs de la thyroïde/sang , Immunohistochimie , Marqueurs biologiques/sang , Études de cohortes , Sensibilité et spécificité , Nodule thyroïdien/sang , Carcinome neuroendocrine/anatomopathologie , Carcinome neuroendocrine/sang , Cytoponction , Diagnostic précoce , Luminescence
14.
Arch. endocrinol. metab. (Online) ; 63(2): 137-141, Mar.-Apr. 2019. tab, graf
Article Dans Anglais | LILACS | ID: biblio-1001220

Résumé

ABSTRACT Objective: Because serum calcitonin (CT) is a reliable marker of the presence, volume, and extent of disease in medullary thyroid cancer (MTC), both the ATA and NCCN guidelines use the 2-3 month post-operative CT value as the primary response to therapy variable that determines the type and intensity of follow up evaluations. We hypothesized that the calcitonin would nadir to undetectable levels within 1 month of a curative surgical procedure. Subjects and methods: This retrospective review identified 105 patients with hereditary and sporadic MTC who had at least two serial basal CT measurements done in the first three months after primary surgery. Results: When evaluated one year after initial surgery, 42 patients (42/105, 40%) achieved an undetectable basal calcitonin level without additional therapies and 56 patients (56/84, 67%) demonstrated a CEA within the normal reference range. In patients destined to have an undetectable CT as the best response to initial therapy, the calcitonin was undetectable by 1 month after surgery in 97% (41/42 patients). Similarly, in patients destined to have a normalize their CEA, the CEA was within the reference range by 1 month post-operatively in 63% and by 6 months in 98%. By 6 months after curative initial surgery, 100% of patients had achieved a nadir undetectable calcitonin, 98% had reached the CEA nadir, and 97% had achieved normalization of both the calcitonin and CEA. Conclusion: The 1 month CT value is a reliable marker of response to therapy that allows earlier risk stratification than the currently recommended 2-3 month CT measurement.


Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Adulte , Adulte d'âge moyen , Sujet âgé , Sujet âgé de 80 ans ou plus , Jeune adulte , Calcitonine/sang , Tumeurs de la thyroïde/sang , Carcinome neuroendocrine/sang , Période postopératoire , Thyroïdectomie , Facteurs temps , Tumeurs de la thyroïde/chirurgie , Marqueurs biologiques tumoraux/sang , Études rétrospectives , Études de suivi , Carcinome neuroendocrine/chirurgie
15.
Rev. argent. endocrinol. metab ; 56(1): 60-69, mar. 2019. ilus
Article Dans Anglais | LILACS | ID: biblio-1041760

Résumé

ABSTRACT Background: RET proto-oncogene mutations are responsible for familial thyroid medullary carcinoma and multiple endocrine neoplasia (MEN) type 2A and 2B. These syndromes develop specific biomarkers and, in the case of MEN2B, clinically observable stigmas. However, the diagnosis of patients with MEN2B is usually delayed. Because of the close genotype-phenotype correlation, molecular testing is the final approach for the diagnosis to establish preventive care and therapeutic behaviors. Discussion: pM918T is classified as ''highest risk'' for medullary carcinoma with a 50% of lifetime risk for developing pheochromocytoma. Most cases of MEN2B are due to a de novo mutation. Even with the increased risk of developing pheochromocytoma, our 24-year-old patient does not yet present one. Other factors may be involved in the modulation of the phenotype in different populations. Case report: We present the case of a woman diagnosed with a thyroid nodule at the age of nine. She underwent a total thyroidectomy plus radical cervical lymph node dissection, with a diagnosis and initial management of papillary thyroid carcinoma. During the evolution of the disease, she developed pulmonary metastases. At the age of 24, after her first endocrinological evaluation, typical physical manifestations of MEN2B were observed. A re-evaluation of the original thyroidectomy revealed a medullary carcinoma, with positive manifestation CEA and calcitonin. The analysis of RET proto-oncogene identified a de novo mutation in exon 16 (pM918T). Conclusion: The timely diagnosis of MEN2B offers opportunities to make appropriate preventive and therapeutic decisions that may change the natural evolution of the disease and its complications.


Sujets)
Humains , Femelle , Adulte , Néoplasie endocrinienne multiple de type 2b/complications , Néoplasie endocrinienne multiple de type 2b/diagnostic , Néoplasie endocrinienne multiple de type 2b/prévention et contrôle , Diagnostic différentiel , Protéines proto-oncogènes c-ret/analyse
16.
Chinese Journal of Endocrine Surgery ; (6): 139-143, 2019.
Article Dans Chinois | WPRIM | ID: wpr-743415

Résumé

Objective To analyze the clinical features of medullary thyroid carcinoma(MTC) and the risk factors of cervical lymph node metastasis.Methods A retrospective analysis of 84 cases of thyroid surgery in the First Affiliated Hospital of Zhengzhou University from Jan.2012 to Jun.2018 and confirmed by routine pathology as MTC patients was performed.Chi-square test and logistic regression were used to analyze patients' age,gender,clinical features such as tumor diameter,number of lesions,and invasion of the capsule and risk factors associated with cervical lymph node metastasis.Results Statistical analysis found that the incidence of lymph node metastasis significantly increased in patients with central region ≥ 1 cm (x2=4.196,P=0.041),multiple lesions (x2=5.946,P=0.015),and thyroid capsule invasion (x2=15.277,P<0.001) and the difference was statistically significant.The incidence of cervical lymph node metastasis was significantly higher in patients with the tumor diameter ≥ 1 cm(x2=5.269,P=0.022),multiple lesions(x2=4.550,P=0.033),and thyroid capsule invasion(x2=19.253,P<0.001) and the difference was statistically significant.Logistic regression analysis showed that thyroid capsule invasion was an independent risk factor for central lymph node metastasis (OR=7.551,P=0.001) and cervical lymph node metastasis (OR=8.067,P<0.001).Of the 84 patients who received calcitonin before surgery,56 patients had preoperative calcitonin>200 pg/ml,and the cervical lymph node metastasis rate was 55.4% (31/56).28 patients had preoperative calcitonin<200 pg/ml,and the cervical lymph node metastasis rate was 28.6% (8/28).The former increased and the difference was statistically significant.Of the 18 patients who underwent preoperative detection of carcinoembryonic antigen (CEA),8 patients had CEA>30 ng/ml,cervical lymph node metastasis was 75% (6/8);10 patients had CEA<30 ng/ml,and the cervical lymph node metastasis was 60%(6/10).Conclusions Higher cervical lymph node metastasis is a clinical feature of MTC.For patients with thyroid capsule invasion,the risk of cervical lymph node metastasis is significantly increased,and prophylactic cervical lymph node dissection is required.Preoperative detection of calcitonin and CEA can be used to diagnose MTC and predict lymph node metastasis.The cervical lymph node dissection can be considered with reference to the concentration.

17.
Journal of the ASEAN Federation of Endocrine Societies ; : 226-228, 2019.
Article Dans Anglais | WPRIM | ID: wpr-961563

Résumé

@#The cell origin, histopathologic features, and prognosis of medullary and papillary thyroid carcinoma are different and to have them occur simultaneously in a single patient is a rare occurrence. This is a case of a 38-year-old female who presented with an enlarging anterior neck mass whose fine needle aspiration biopsy could not rule out a papillary lesion. Thus, she was advised to undergo total thyroidectomy, and her final histopath showed a simultaneous medullary and papillary thyroid carcinoma. Her initial serum calcitonin was elevated at 252 pg/ ml, and it remained persistently elevated over the course of 7 months. A repeat ultrasound revealed solid nodules with coarse calcifications and enlarged lymph nodes at both submandibular regions. This warranted a repeat surgery with neck dissection with the finding of eight lymph nodes positive for metastatic carcinoma. On follow up after her second surgery, the calcitonin decreased to 42.70 pg/ml. Knowledge of this simultaneous occurrence of medullary thyroid carcinoma and papillary cancer is important for its prognostic implications and therapeutic plan


Sujets)
Tumeurs de la thyroïde , Cancer papillaire de la thyroïde
18.
Acta Academiae Medicinae Sinicae ; (6): 690-695, 2019.
Article Dans Chinois | WPRIM | ID: wpr-775974

Résumé

Despite its low incidence,medullary thyroid carcinoma(MTC)is featured by its fast progression and poor prognosis.Early diagnosis and treatment is therefore particularly important.As a convenient and non-invasive diagnostic tool,ultrasound plays a key role in the diagnosis and follow-up of MTC.In recent years,the application of conventional ultrasound,ultrasonic elastography,and ultrasound-guided fine needle aspiration biopsy has dramatically improved the diagnostic accuracy of MTC.


Sujets)
Humains , Cytoponction , Imagerie d'élasticité tissulaire , Tumeurs de la thyroïde , Imagerie diagnostique , Échographie
19.
Chinese Journal of Radiological Medicine and Protection ; (12): 493-499, 2019.
Article Dans Chinois | WPRIM | ID: wpr-754997

Résumé

Objective To explore whether MiR-129-5p participates in radiosensitivity of medullary thyroid cell MZ-CRC-1 by inhibiting the gene expression of high mobility group protein B1 ( HMGB1) . Methods The radioresistant cell line MZ-CRC-1/R was established from MZ-CRC-1. Cell survival fraction was analyzed by colony formation assay. The expressions of miR-129-5p in MZ-CRC-1 and MZ-CRC-1/R cells were detected by qRT-PCR. Cell viability was determined by MTT assay. Cell apoptosis was measured by flow cytometry. Dual-luciferase reporter assay was performed to confirm the relationship between miR-129-5p and HMGB1. Besides, the protein expressions of HMGB1 and p-AKt were evaluated by western blot. Results Compared with that of MZ-CRC-1 cells, the survival fraction of MZ-CRC-1/R cells was significantly increased (t=3. 038, 4. 330, 4. 885, 4. 568, P<0. 05), the cell viability of MZ-CRC-1/R cells was also increased ( t=3. 637, 7. 734, 11. 896, 14. 522, P<0. 05) , and the expression of miR-129-5p(0.26±0.03) was significantly decreased in MZ-CRC-1/R cells(1.00±0.06) (t=19. 107, P<0. 05) . Compared with miR-NC-inhibitor group, cell viability was promoted and cell apoptosis was blocked in the miR-129-5p-inhibitor group ( t=5. 156, 6. 005, 9. 649, 8. 659, P<0. 05) . Moreover, miR-129-5p mimic suppressed cell viability and enhanced cell apoptosis after irradiation ( t=3. 118, 5. 034, 6. 005, 7. 488, 6. 362, P<0. 05) . Overexpression of miR-129-5p inhibited the protein expressions of HMGB1 and p-AKt (t=9. 325, 10. 614, P<0. 05). In addition, HMGB1 depletion rescued cell apoptosis that was reduced by miR-129-5p inhibitor in MZ-CRC-1 cells ( t=6. 700, P<0. 05) , while HMGB1 overexpression attenuated the effect of miR-129-5p upregulation on MZ-CRC-1/R cells ( t=7. 073,P<0. 05) . Conclusions miR-129-5p increased the radiosensitivity of medullary thyroid-like cell MZ-CRC-1 by inhibiting HMGB1.

20.
Chinese Journal of Practical Surgery ; (12): 225-230, 2019.
Article Dans Chinois | WPRIM | ID: wpr-816375

Résumé

Prognosis of medullary thyroid carcinoma(MTC)is worse,and occurrence of early metastasis is easy. Hereditary and sporadic MTC have different clinical characteristics and prognosis. The diagnostic value of ultrasound,CT,MRI and bone scintigraphy is special. Calcitonin(Ctn)is found to have diagnostic specificity,while carcinoembryonic antigen(CEA)is useful for evaluating disease progression. Whether hereditary or sporadic MTC,surgeons should pay attention to the subsequent genetic detection. Different surgical strategies are required for hereditary and sporadic MTC. Active surgery is necessary for patients with regional recurrence and nodal metastasis. Advanced progressive MTC could be treated by palliative surgery,external radiotherapy or systemic treatment with the tyrosine kinase inhibitor. Measurement of doubling times of serum Ctn and CEA can evaluate recurrence and metastasis after surgery.

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