Advances in diagnosis and treatment of medullary thyroid carcinoma complicated with papillary carcinoma / 中华内分泌外科杂志

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.

Histogram analysis of based on two-dimensional ultrasound images to differentiate medullary thyroid carcinoma and thyroid adenoma / 中华肿瘤杂志

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.

Unusual Presentation of a Thyroid Malignancy: A Case Report

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.

Risk Factors of lateral cervical lymph node metastases and survival analysis in patients with medullary thyroid carcinoma / 中华内分泌外科杂志

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.

Carcinoma medular esporádico de tiroides / Sporadic Medullary Thyroid Carcinoma

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)

Three patients with ectopic corticotropin-releasing hormone(CRH)syndrome due to medullary thyroid carcinoma and literature review / 中华内分泌代谢杂志

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.

Multiple endocrine neoplasia-IIb with RET gene mutation p.M918T： A case report / 中南大学学报(医学版)

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.

An Interesting Case of Familial Medullary Carcinoma Thyroid – Seldom Seen by Surgeons

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.

Medición rutinaria de calcitonina sérica en nódulos tiroideos / Routine serum calcitonin measurement in thyroid nodules

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%.

Difficulties and countermeasures in the diagnosis and treatment of medullary thyroid carcinoma / 中国实用外科杂志

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.

Application of Ultrasonography in the Diagnosis of Medullary Thyroid Cancer / 中国医学科学院学报

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.

Clinical analysis of medullary thyroid carcinoma and risk factors of cervical lymph node metastasis / 中华内分泌外科杂志

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.

MiR-129-5p enhances the radiosensitivity of thyroid myeloid cell MZ-CRC-1 by inhibiting HMGB1 / 中华放射医学与防护杂志

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.

A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals

ABSTRACT Objective: Initial diagnosis of medullary thyroid carcinoma (MTC) is frequently associated with advanced stages and a poor prognosis. Thus, the need for earlier diagnoses and detection in relatives at risk for the disease has led to increased use of RET genetic screening. Subjects and methods: We performed RET screening in 247 subjects who were referred to the Brazilian Research Consortium for Multiple Endocrine Neoplasia (BRASMEN) Center in the State of Ceará. Direct genetic sequencing was used to analyze exons 8, 10, 11, and 13-16 in MTC index cases and specific exons in at risk relatives. Afterward, clinical follow-up was offered to all the patients with MTC and their affected relatives. Results: RET screening was performed in 60 MTC index patients and 187 at-risk family members. At the initial clinical assessment of the index patients, 54 (90%) were diagnosed with apparently sporadic disease and 6 (10%) diagnosed with hereditary disease. After RET screening, we found that 31 (52%) index patients had sporadic disease, and 29 (48%) had hereditary disease. Regarding at-risk relatives, 73/187 were mutation carriers. Mutations in RET codon 804 and the rare p.M918V mutation were the most prevalent. Conclusions: Performing RET screening in Ceará allowed us to identify a different mutation profile in this region compared with other areas. RET screening also enabled the diagnosis of a significant number of hereditary MTC patients who were initially classified as sporadic disease patients and benefited their relatives, who were unaware of the risks and the consequences of bearing a RET mutation.

Síndromes de neoplasia endocrina múltiple: revisión radiológica / Multiple Endocrine Neoplasia Syndromes: Radiological Review

Los síndromes de neoplasia endocrina múltiple (MEN), incluyen una serie de enfermedades con alteraciones genéticas que se caracterizan por la presencia de tumores que afectan a dos o más glándulas endocrinas. Son síndromes con una herencia autosómica dominante e incluyen tres patrones: MEN 1 (síndrome de Wermer), MEN 2 (que incluye MEN 2A o síndrome de Sipple y MEN 2B o síndrome de Wagenmann-Froboese) y MEN 4. Los adenomas paratiroideos y el carcinoma medular tiroideo, son los tumores más frecuentes del MEN tipo 1 y 2 respectivamente. Esos síndromes son más comunes en pacientes jóvenes, con patología de afectación bilateral, múltiple o multifocal y, sobre todo, en pacientes con antecedentes familiares. Es necesario el trabajo en equipo de endocrinólogos, cirujanos, oncólogos y radiólogos para optimizar el tratamiento de esos pacientes.

Multiple endocrine neoplasia (MEN) encompasses a serial of familial genetically disorders in wich tumors simultaneusly occur in two or more endocrine organs. MEN síndromes are autosomal-dominant disorders categorized into three main patterns: MEN 1 (Wermer syndrome), MEN 2 (includes MEN 2A o Sipple syndrome and MEN 2B o Wagenmann-Froboese syndrome) and MEN 4. Parathyroid adenomas and medullary thyroid carcinoma are the most frecuent tumors in MEN 1 and MEN 2 respectively. These entities will be suspected in younger patients, bilateral, multiple or multifocal disease and, specially, in patients with family background. Cooperation between endocrinologist, surgeons, oncologists and radiologists is pivotal for optimizing patient treatment.

Multiple Endocrine Neoplasia Type 2b Syndrome: A Rare Case Presentation

Multiple endocrine neoplasia Type 2b is a rare syndrome caused by mutations in RET proto oncogene. It is a rare entity, which is found 1 in 30,000 people. We report a case of 35–year–old male patient who presented with 1 episode of syncope; had bumpy lips and mucosal neuromas over the tongue which on detailed biochemical and radiological investigations turned out to be MEN Type 2B syndrome

The mutation site and the targeted therapy of RET proto-oncogene in medullary thyroid carcinoma / 中华内分泌外科杂志

Medullary thyroid carcinoma (MTC) is an endocrine tumor originating from the parafollicular cells of the thyroid gland.The mutation of RET gene has been considered as the molecular basis of MTC.Different types of MTC have different RET mutation sites,and the corresponding clinical manifestations and prognosis are also very different.RET gene detection is helpful for individual accurate gene diagnosis,molecular risk assessment,individual analysis and early prevention management.Nowadays,targeted therapy for RET gene mutations in MTC has developed rapidly.Some of those drugs,which have been approved for clinical application,bring new hope for advanced MTC.

Bone and Calcified Soft Tissue Metastases of Medullary Thyroid Carcinoma Better Characterized on ¹⁸F-Fluoride PET/CT than on ⁶⁸Ga-Dotatate PET/CT / 대한핵의학회잡지

Herein, we report a case of a 19-year-old man with multiple endocrine neoplasia type 2B (MEN2B) and medullary thyroid carcinoma (MTC) diagnosed when he was 12 years of age. The patient had previously undergone total thyroidectomy, cervical radiotherapy, and chemotherapy. He progressed with known bone, pulmonary, and lymph node metastases and was scanned with ¹⁸F-fluoride (¹⁸F-NaF) and ⁶⁸Ga-dotatate whole-body positron emission tomography/computed tomography (PET/CT) for metastatic disease monitoring.We found that the MTC bone metastases and soft tissue calcified metastases were better characterized on ¹⁸F-NaF PET/CT than on ⁶⁸Ga-dotatate PET/CT. This case illustrates that the ¹⁸F-NaF PET/CT could be helpful not only to the detection of bone metastases but also to the detection of calcified soft tissue metastases in patients with MTC.

Medullary thyroid carcinoma - Adverse events during systemic treatment: risk-benefit ratio

ABSTRACT Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating from parafollicular C cells of the thyroid and associated with mutations in the proto-oncogene REarranged during Transfection (RET). The prognosis of MTC depends on clinical stage, with a 95.6% 10-year survival rate among patients with localized disease and 40% among patients with advanced disease. Standard chemotherapy and radiotherapy have no significant impact on the overall survival of these patients and two tyrosine kinase receptor inhibitors (TKIs), vandetanib and cabozantinib, have been recently approved for the systemic treatment of locally advanced or metastatic MTC. However, since patients with MTC and residual or recurrent disease may have an indolent course with no need for systemic treatment, and since these drugs are highly toxic, it is extremely important to select the patients who will receive these drugs in a correct manner. It is also essential to carefully monitor patients using TKI regarding possible adverse effects, which should be properly managed when occurring.

Carcinoma familiar de tiroides no medular: reporte de un caso clínico y revisión de la literatura / Familial non medullary thyroid carcinoma: report of a case and literature review

El carcinoma tiroideo familiar no medular (CFTNM) representa aproximadamente entre el 3,2% y 9,6% de todos los cánceres de tiroides, y se define por la presencia de cáncer diferenciado de tiroides en 2 o más familiares, en ausencia de otros síndromes familiares conocidos o exposición a radiación. Si bien su fisiopatología es aún incierta, algunos investigadores postulan un patrón de herencia dominante con penetrancia incompleta, no habiendo aún un gen específico responsable. Esta entidad suele presentarse a una menor edad y con características más agresivas que en su forma esporádica. Dado el interés por conocer la presentación de esta enfermedad y las recomendaciones para su manejo, se presenta el caso de una paciente diagnosticada con cáncer papilar de tiroides con el antecedente de 4 familiares con la misma patología. Actualmente el tamizaje mediante ecografía cervical y biopsia por punción aspiración con aguja fina de los nódulos tiroideos es el examen de elección ante la presencia del antecedente de CFTNM, ya que aún no hay estudios genéticos disponibles. La tiroidectomía total más disección ganglionar es el tratamiento de elección. Debido al comportamiento más agresivo y peor pronóstico del CFTNM, es necesaria un alto índice de sospecha y una investigación completa en la presencia de un componente familiar.

The non-familial medullary thyroid carcinoma (FNMTC) represents approximately between 3.2 and 9.6% of all thyroid cancers, and is defined by the presence of differentiated thyroid cancer in 2 or more families in the absence of other known familial syndromes or radiation exposure. Although the pathophysiology is still uncertain, some investigators posit a dominant pattern of inheritance with incomplete penetrance, but still there is no specific gene responsible. It occurs at a younger age and with more aggressive characteristics than the sporadic form. Because of the interest in learning about the presentation of this disease and its recommendations, we present the case of a patient diagnosed with papillary thyroid cancer with a history of 4 family with the same pathology. Actually cervical screening by ultrasound and the fine needle aspiration biopsy (FNAB) of thyroid nodules is the examination of choice in the presence of a history of FNMTC, since no genetic studies yet available. Total thyroidectomy with lymph node dissection is the treatment of choice. Because the more aggressive behavior and poor prognosis of FNMTC, a high index of suspicion and a full investigation is required in the presence of a familial component.