Thromboelastometry-guided surgery in neuroblastoma complicated with disseminated intravascular coagulation. / Cirugía guiada por tromboelastometría en neuroblastoma complicado con coagulación intravascular diseminada.

BACKGROUND: Disseminated intravascular coagulation (DIC) is a rare oncological emergency. We report a pediatric neuroblastoma complicated with DIC which required thromboelastometry-guided surgery. OBSERVATION: A 6-year-old female diagnosed with intermediate risk adrenal neuroblastoma developed tumor-related DIC after chemotherapy first cycle. She remained stable without clinical bleeding and emergent tumor resection guided by intraoperative-thromboelastometry was decided. DIC resolved early after surgery and complete remission was achieved. CONCLUSION: Treatment of the underlying condition is critical to manage DIC. Thromboelastometry can guide goal-directed therapy, including surgery in pediatric patients. However, larger studies are needed to examine its applicability in different clinical settings, such as cancer related DIC.

INTRODUCCION: La coagulación intravascular diseminada (CID) es una urgencia oncológica poco común. Describimos el caso de un neuroblastoma pediátrico complicado con CID que precisó de cirugía guiada por tromboelastometría. CASO CLINICO: Paciente de seis años diagnosticada de neuroblastoma suprarrenal de riesgo intermedio que desarrolló CID asociada al tumor tras el primer ciclo de quimioterapia. Permaneció estable sin hemorragia clínica, decidiéndose una resección tumoral de urgencia guiada por tromboelastometría intraoperatoria. La CID se resolvió poco después de la cirugía, consiguiéndose una remisión total. CONCLUSION: El tratamiento de la patología subyacente es clave a la hora de manejar la CID. La tromboelastometría puede guiar la terapia orientada a objetivos, también en cirugías realizadas en pacientes pediátricos. No obstante, hacen falta mayores estudios que analicen su aplicabilidad en distintos contextos clínicos, como la CID relacionada con cáncer.

Cirugía guiada por tromboelastometría en neuroblastoma complicado con coagulación intravascular diseminada / Thromboelastometry-guided surgery in neuroblastoma complicated with disseminated intravascular coagulation

Introducción: La coagulación intravascular diseminada (CID) es una urgencia oncológica poco común. Describimos el caso de un neuroblastoma pediátrico complicado con CID que precisó de cirugía guiada por tromboelastometría. Caso clínico. Paciente de seis años diagnosticada de neuroblastoma suprarrenal de riesgo intermedio que desarrolló CID asociada al tumor tras el primer ciclo de quimioterapia. Permaneció estable sin hemorragia clínica, decidiéndose una resección tumoral de urgencia guiada por tromboelastometría intraoperatoria. La CID se resolvió poco después de la cirugía, consiguiéndose una remisión total. Conclusión. El tratamiento de la patología subyacente es clave a la hora de manejar la CID. La tromboelastometría puede guiar la terapia orientada a objetivos, también en cirugías realizadas en pacientes pediátricos. No obstante, hacen falta mayores estudios que analicen su aplicabilidad en distintos contextos clínicos, como la CID relacionada con cáncer.(AU)

Background: Disseminated intravascular coagulation (DIC) is a rare oncological emergency. We report a pediatric neuroblastoma complicated with DIC which required thromboelastometry-guided surgery. Observation. A 6-year-old female diagnosed with intermediate risk adrenal neuroblastoma developed tumor-related DIC after chemotherapy first cycle. She remained stable without clinical bleeding and emergent tumor resection guided by intraoperative-thromboelastometry was decided. DIC resolved early after surgery and complete remission was achieved. Conclusion. Treatment of the underlying condition is critical to manage DIC. Thromboelastometry can guide goal-directed therapy, including surgery in pediatric patients. However, larger studies are needed to examine its applicability in different clinical settings, such as cancer related DIC.(AU)

Ileocolic intussusception: Ultrasound-guided hydrostatic reduction with sedation and analgesia.

INTRODUCTION: The first-choice treatment for ileocolic intussusception is imaging-guided reduction with water, air, or barium. The objectives of the current study were to evaluate the efficacy and safety of ultrasound-guided reduction of intussusception using water in patients under sedation and analgesia. We compare this approach with our previous experience in reduction using barium under fluoroscopic guidance without sedation and analgesia and investigate what factors predispose to surgical correction. MATERIAL AND METHODS: We retrospectively reviewed cases of children with ileocolic intussusception treated in a third-level pediatric hospital during a 52-month period: during the first 24 months, reduction was done using barium and fluoroscopy without sedoanalgesia, and during the following 28 months, reduction was done using water and ultrasound with sedoanalgesia. A pediatric radiologist and a pediatrician reviewed the clinical history, surgical records, and imaging studies. RESULTS: In the 52-month period, 59 children (41 boys and 18 girls; mean age, 16.0 months) were diagnosed with ileocolic intussusception at our hospital. A total of 33 reductions (28 patients and 5 recurrences) were done using barium under fluoroscopic guidance, achieving a 61% success rate. A total of 38 reductions (31 patients and 7 recurrences) were done using water under ultrasound guidance with patients sedated, achieving a success rate of 76%. No significant adverse effects were observed in patients undergoing ultrasound-guided hydrostatic reduction under sedation, and the success rate in this group was higher (p = 0.20). The factors that predisposed to surgical reduction were greater length of the intussusception (p = 0.03), location in areas other than the right colon (p = 0.002), and a greater length of time between symptom onset and imaging tests (p = 0.08). CONCLUSION: Ultrasound-guided hydrostatic reduction of ileocolic intussusception under sedoanalgesia is efficacious and safe.

Effects of MPK3 and MPK6 kinases on the chloroplast architecture and function induced by cold acclimation in Arabidopsis.

Exposure to low, non-freezing temperatures develops freezing tolerance in many plant species. Such process is called cold acclimation. Molecular changes undergone during cold acclimation are orchestrated by signalling networks including MAP kinases. Structure and function of chloroplasts are affected by low temperatures. The aim of this work was to study how the MAP kinases MPK3 and MPK6 are involved in the chloroplast performance upon a long period of cold acclimation. We used Arabidopsis thaliana wild type and mpk3 and mpk6 mutants. Adult plants were acclimated during 7 days at 4 °C and then measurements of PSII performance and chloroplast ultrastructure were carried out. Only the mpk6 acclimated plants showed a high freezing sensitivity. No differences in the PSII function were observed in the plants from the three genotypes exposed to non-acclimated or acclimated conditions. The acclimation of wild-type plants produced severe alterations in the ultrastructure of chloroplast and thylakoids, which was more accentuated in the mpk plants. However, only the mpk6 mutant was unable to internalize the damaged chloroplasts into the vacuole. These results indicate that cold acclimation induces alterations in the chloroplast architecture leading to preserve an optimal performance of PSII. MPK3 and MPK6 are necessary to regulate these morphological changes, but besides, MPK6 is needed to the vacuolization of the damaged chloroplasts, suggesting a role in the chloroplast recycling during cold acclimation. The latter could be quite relevant, since it could explain why this mutant is the only one showing an extremely low freezing tolerance.

Optical and thermal properties of edible coatings for application in solar drying.

Solar drying is a sustainable process that may impact the quality of dried food. This is because, pigments contained in food are sensitive to sunlight, and exposure to ultraviolet radiation can affect them. We applied biopolymer-based coatings on strawberry, from hydro-colloidal solutions of Opuntia ficus indica-mucilage, fenugreek, xanthan gum, gum Arabic, and guar gum to evaluate their potential use as UV filters for solar drying of food. Thermal properties and the optical transmittance, absorbance and reflectance of the coatings were measured to assess their influence on food-sunlight interaction. During the drying experiments, the moisture content, total anthocyanins (TA), and total phenolic compounds (TPC) were measured. Optical and thermal properties are influenced by the biopolymer-based coatings. Also, the optical properties are influenced by the coating thickness. The differences in optical and thermal properties influence the drying process. Differences exist in the drying rate for strawberry slices with coating, compared with those without the coatings. In general, the TA and TPC content in the product are better preserved under solar drying than in control experiments done in a drying oven. A partial transmittance of solar UV radiation is recommended to obtain increased TA and TPC contents in the dried product.

Turing instability conditions in confined systems with an effective position-dependent diffusion coefficient.

We study a reaction-diffusion system within a long channel in the regime in which the projected Fick-Jacobs-Zwanzig operator for confined diffusion can be used. We found that under this approximation, Turing instability conditions can be modified due to the channel geometry. The dispersion relation, range of unstable modes where pattern formation occurs, and spatial structure of the patterns itself change as functions of the geometric parameters of the channel. This occurs for the three channels analyzed, for which the values of the projected operators can be found analytically. For the reaction term, we use the well-known Schnakenberg kinetics.

Routine antenatal ultrasound in low- and middle-income countries: first look - a cluster randomised trial.

OBJECTIVE: Ultrasound is widely regarded as an important adjunct to antenatal care (ANC) to guide practice and reduce perinatal mortality. We assessed the impact of ANC ultrasound use at health centres in resource-limited countries. DESIGN: Cluster randomised trial. SETTING: Clusters within five countries (Democratic Republic of Congo, Guatemala, Kenya, Pakistan, and Zambia) METHODS: Clusters were randomised to standard ANC or standard care plus two ultrasounds and referral for complications. The study trained providers in intervention clusters to perform basic obstetric ultrasounds. MAIN OUTCOME MEASURES: The primary outcome was a composite of maternal mortality, maternal near-miss mortality, stillbirth, and neonatal mortality. RESULTS: During the 24-month trial, 28 intervention and 28 control clusters had 24 263 and 23 160 births, respectively; 78% in the intervention clusters received at least one study ultrasound; 60% received two. The prevalence of conditions noted including twins, placenta previa, and abnormal lie was within expected ranges. 9% were referred for an ultrasound-diagnosed condition, and 71% attended the referral. The ANC (RR 1.0 95% CI 1.00, 1.01) and hospital delivery rates for complicated pregnancies (RR 1.03 95% CI 0.89, 1.20) did not differ between intervention and control clusters nor did the composite outcome (RR 1.09 95% CI 0.97, 1.23) or its individual components. CONCLUSIONS: Despite availability of ultrasound at ANC in the intervention clusters, neither ANC nor hospital delivery for complicated pregnancies increased. The composite outcome and the individual components were not reduced. TWEETABLE ABSTRACT: Antenatal care ultrasound did not improve a composite outcome that included maternal, fetal, and neonatal mortality.

Outcomes of a pediatric surgical oncology fellowship in a pediatric cancer institution.

Surgery plays an important role as part of the treatment plan in most children with malignant solid tumors in regards to initial biopsy, upfront resection, and delayed resection. Surgeons also play a critical role in the treatment of surgical complications that may arise during medical treatment. The pediatric surgical oncologist should be familiar with the current treatment guidelines, histology implications, chemotherapy and radiation side effects, tumor staging, and overall care of the child with cancer. Specific training in pediatric surgical oncology is not widespread internationally and it represents a potential undervalued intervention for improving global pediatric cancer care.

Long-term outcomes of pediatric and adolescent mediastinal germ cell tumors: a single pediatric oncology institutional experience.

PURPOSE: To evaluate the epidemiologic, demographic, and clinical characteristics, as well as prognostic factors and long-term outcomes of mediastinal germ cell tumors (MGCT) in children. PATIENTS AND METHODS: A retrospective study of pediatric patients diagnosed with a primary MGCT between January 1963 and August of 2014 was performed. RESULTS: Twenty-five patients were identified. Six children with teratomas were treated with resection alone (median age 7.8 years, range newborn to 15 years) and were cured without recurrence or progression. Nineteen children were treated for a malignant MGCT (median age 11.7 years, range 7 months-18 years); 5 year overall survival (OS) was 0.39 ± 0.12. For malignant non-seminomatous mediastinal germ cell tumors, platinum-based chemotherapy regimen (OS 0.56 vs 0.14, p = 0.03), complete surgical resection with negative margins (OS 0.73 vs 0.11, p = 0.03); and localized disease (OS 0.76 vs 0.0, p = 0.004) demonstrated a survival advantage. CONCLUSIONS: Initial surgical resection is appropriate for teratomas. Localized disease, complete resection, and platinum-based chemotherapy are associated with improved survival in malignant non-seminomatous mediastinal germ cell tumors. Neoadjuvant, platinum-based three drug regimens followed by delayed surgical resection is the appropriate treatment modality for malignant mediastinal germ cell tumors.

Guidewire Catheter Exchange in Pediatric Oncology: Indications, Postoperative Complications, and Outcomes.

BACKGROUND: Maintaining long-term central venous catheters (CVCs) in children undergoing chemotherapy can be challenging. Guidewire catheter exchange (GCE) replaces a CVC without repeat venipuncture. This study evaluated the indications, success rate, and complications of GCE in a large cohort of pediatric cancer patients. PROCEDURE: Medical records of pediatric cancer patients who underwent GCE at our institution between 2003 and 2013 were retrospectively reviewed. Variables analyzed included gender, age at GCE, primary cancer diagnosis, indication for GCE, absolute neutrophil count (ANC) at GCE, vein used, success rate, and postoperative complications (<30 days after exchange). RESULTS: A total of 435 GCEs performed in 407 patients (230 males and 177 females) were reviewed. Median age at GCE was 8 years (range, 0.2-24). Acute lymphoblastic leukemia was the most common diagnosis (50.6%). The primary indication for GCE was the desire to have an alternative type of CVC (71%). Other indications included catheter displacement (17%), catheter malfunction (11%), and catheter infection (1%). Median ANC at GCE was 2,581/mm(3) (range, 0-43,400). Left subclavian vein was more commonly used (57.7%). The success rate of GCE was 93.4% (406 of 435 procedures, 95% confidence interval: 91.0-97.5%). A total of 33 (7.5%) postoperative complications occurred including central line associated bloodstream infection (CLABSI) (n = 20, 4.5%), catheter dislodgement (n = 6, 1.4%), and catheter malfunction (n = 7, 1.6%). CONCLUSIONS: We conclude that GCE in pediatric cancer patients is associated with a high success rate and a low risk of complications. The most common postoperative complication, CLABSI, occurred at a rate significantly lower than following de novo CVC placement.

Association Between Lymphatic Malformations of the Mediastinum and Congenital Venous Ectasia: Is It Just Coincidental?

The association between lymphatic malformations and congenital venous ectasia is extremely rare, and the relative rarity of both entities makes it difficult to determine the relationship between the two. Here we present four new cases and review the current literature. We hypothesize that there might be a strong association between mediastinal lymphatic malformations and segmental phlebectasia; furthermore, there is a molecular background that may justify the association between these two entities.

Bilateral internal hemipelvectomy for osteosarcoma in a pediatric patient previously treated for rhabdomyosarcoma.

The surgical treatment of malignant bone tumors involving the pelvis represents a great challenge in terms of local control. Internal hemipelvectomy is a major surgical procedure that involves the resection of the entire hemipelvis or of a portion of the hemipelvis with preservation of the ipsilateral extremity. The need for a bilateral internal hemipelvectomy is an extraordinary situation. We describe the case of an 11-year-old girl with a primary diagnosis of rhabdomyosarcoma of the bladder at the age of two years who subsequently developed a right pelvis osteosarcoma at the age of six years and a left pelvis osteosarcoma at the age of nine years. She ultimately underwent sequential bilateral internal hemipelvectomies and she postoperatively ambulates without an assist device.

Appendiceal carcinoid tumor in children: implications for less radical surgery?

The discovery of an appendiceal carcinoid tumor found incidentally or during the course of diagnostic or therapeutic procedures is a burden to both the patient and clinician. The role of the correct surgical operation is paramount for lesions suspected to be malignant. In the pediatric population, appendiceal carcinoids continue to challenge the clinician in choosing the optimal treatment when lesions are larger than 2 cm or involve the appendical base. While the criteria used to define these distinct lesions are available in most cases, the management and treatment are still debated and controversial when considering more radical surgical intervention. The purpose of this article is to give an overview regarding the history, diagnosis, histopathology, management, and controversies associated with appendiceal carcinoid in the pediatric population (AU)

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Appendiceal carcinoid tumor in children: implications for less radical surgery?

The discovery of an appendiceal carcinoid tumor found incidentally or during the course of diagnostic or therapeutic procedures is a burden to both the patient and clinician. The role of the correct surgical operation is paramount for lesions suspected to be malignant. In the pediatric population, appendiceal carcinoids continue to challenge the clinician in choosing the optimal treatment when lesions are larger than 2 cm or involve the appendical base. While the criteria used to define these distinct lesions are available in most cases, the management and treatment are still debated and controversial when considering more radical surgical intervention. The purpose of this article is to give an overview regarding the history, diagnosis, histopathology, management, and controversies associated with appendiceal carcinoid in the pediatric population.

Genetic disorders of pediatric MEN2A patients in the south of Spain

INTRODUCTION: Medullary thyroid carcinoma (MTC) is observed in nearly 100 % of patients with multiple endocrine neoplasia type 2A (MEN2A). The gene responsible for MEN2A is the RET proto-oncogene and about 95 % of MEN2A patients have germline mutations in five specific cysteine codons (609, 611, 618, 620 and 634). MATERIALS AND METHODS: A retrospective study of children from families with MEN2A in our geographic area was performed. Variables analyzed included demographic data, kinship relations, age at genetic screening, age at prophylactic thyroidectomy, genetic mutation subtype and histological findings. The genetic study consisted in direct molecular analysis by automatic sequencing of RET mutated exon in the studied family. RESULTS: We performed 13 prophylactic total thyroidectomies from 1997 to 2013, 8 females and 5 males. The mean age at genetic diagnosis was 3.8 years (range 2-5.9). All children belonged to four interconnected families living in the same geographic area and presenting C634Y mutation in all the cases. The mean age at prophylactic thyroidectomy was 5.6 years (range 4-8.5). Histopathological findings demonstrated seven cases of C-cells nodular hyperplasia, one lymphocytic thyroiditis, two without evidence of disease, two micro-carcinomas and one multicentric carcinoma. CONCLUSION: The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the south of Spain is the C635Y. It is considered a high-risk mutation, associated with an earlier malignant transformation and development of MTC (AU)

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Genetic disorders of pediatric MEN2A patients in the south of Spain.

INTRODUCTION: Medullary thyroid carcinoma (MTC) is observed in nearly 100 % of patients with multiple endocrine neoplasia type 2A (MEN2A). The gene responsible for MEN2A is the RET proto-oncogene and about 95 % of MEN2A patients have germline mutations in five specific cysteine codons (609, 611, 618, 620 and 634). MATERIALS AND METHODS: A retrospective study of children from families with MEN2A in our geographic area was performed. Variables analyzed included demographic data, kinship relations, age at genetic screening, age at prophylactic thyroidectomy, genetic mutation subtype and histological findings. The genetic study consisted in direct molecular analysis by automatic sequencing of RET mutated exon in the studied family. RESULTS: We performed 13 prophylactic total thyroidectomies from 1997 to 2013, 8 females and 5 males. The mean age at genetic diagnosis was 3.8 years (range 2-5.9). All children belonged to four interconnected families living in the same geographic area and presenting C634Y mutation in all the cases. The mean age at prophylactic thyroidectomy was 5.6 years (range 4-8.5). Histopathological findings demonstrated seven cases of C-cells nodular hyperplasia, one lymphocytic thyroiditis, two without evidence of disease, two micro-carcinomas and one multicentric carcinoma. CONCLUSION: The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the south of Spain is the C635Y. It is considered a high-risk mutation, associated with an earlier malignant transformation and development of MTC.

Estudio de expresión de marcadores de células madre neurales en neuroblastoma y correlación con factores pronóstico / Study of the expression of neural Stem Cell markers in neuroblastoma tumor samples and correlation with prognostic factors

INTRODUCCIÓN: En el neuroblastoma (NB), la existencia de células madre cancerosas (CMC) se ha relacionado con la presencia de metástasis, resistencia al tratamiento quimioterápico y recidiva. Nuestro objetivo es analizar la expresión de marcadores relacionados con proliferación y diferenciación de células progenitoras neurales en muestras de NB, y correlacionarlo con parámetros clínicos, histología, genética y respuesta al tratamiento. MATERIAL Y MÉTODOS: Realizamos un estudio experimental retrospectivo con muestras de neuroblastoma obtenidas mediante biopsia o exéresis tumoral entre 2010 y 2012 en nuestro hospital. Mediante inmunohistoquímica de fluorescencia analizamos la expresión de los marcadores: CD44, CD74, CD133, tirosina hidroxilasa, receptor de endotelina A (REA) y endotelina B (REB), p75, nestina y Phox2b, todos relacionados con la biología de células madre neurales. Posteriormente, relacionamos los niveles de expresión con variables clínicas. RESULTADOS: La expresión de nestina fue positiva en el 72,2% de las muestras y el REA en el 66,7%. Phox2b y CD74 fueron de menor expresión, siendo positiva en menos del 30%. Los marcadores CD44, REB y Phox2b se expresaban en tumores más agresivos. La expresión de REA se correlacionó de forma significativa con tumores de histología desfavorable (p= 0,01), amplificación del N-myc (p= 0,05) y recidiva/ progresión (p= 0,05). [Conclusión] La expresión de CD44, REB y REA se asoció con tumores más agresivos y factores de mal pronóstico. Estos marcadores están presentes en la membrana de células madre neurales, pudiendo ser útiles para identificar y aislar por citometría de flujo las CMCs del NB y para el estudio de nuevas dianas terapéuticas

INTRODUCTION: The existence of cancer stem cells (CSC) in neuroblastoma (NB) has been associated with the development of metastasis, resistance to chemotherapy and recurrence. Our objective is to analyze the expression of proliferation and differentiation markers of neural progenitor cells in NB samples, and to correlate this expression with clinical variables such as histology, genetics and response to conventional therapy. MATERIAL AND METHODS: We performed a retrospective-experimental study with neuroblastoma samples obtained from biopsies or tumor resections between 2010-2012 in our Hospital. Fluorescence immunohistochemistry was used to analyze the expression of the different markers: CD44, CD74, CD133, tyrosine hydroxylase, endothelin receptors type A (ETA) and B (ETB), p75, nestina y and Phox2b, all of them related to neural stem cell biology. The level of expression of the markers was then correlated with clinical variables. [Results] Nestin expression was positive in 72.2% of samples and ETA in 66.7%. PHOX2B and CD74 expression were lower, being positive in less than 30%. The markers CD44, ETB and PHOX2B were expressed in more aggressive tumors. ETA expression correlated significantly with unfavorable histology tumors (p= 0.01), N-myc amplification (p= 0.05) and recurrence/progression (p= 0.05). [Conclusion] The expression of CD44, ETB and ETA was associated with more aggressive tumors and poor prognostic factors. These markers are in the membrane of neural stem cells and may be useful to identify and isolate by flow cytometry CSCs of NB for the study of new therapeutic targets

[Study of the expression of neural stem cell markers in neuroblastoma tumor samples and correlation with prognostic factors]. / Estudio de expresión de marcadores de células madre neurales en neuroblastoma y correlación con factores pronóstico.

INTRODUCTION: The existence of cancer stem cells (CSC) in neuroblastoma (NB) has been associated with the development of metastasis, resistance to chemotherapy and recurrence. Our objective is to analyze the expression of proliferation and differentiation markers of neural progenitor cells in NB samples, and to correlate this expression with clinical variables such as histology, genetics and response to conventional therapy. MATERIAL AND METHODS: We performed a retrospective-experimental study with neuroblastoma samples obtained from biopsies or tumor resections between 2010-2012 in our Hospital. Fluorescence immunohistochemistry was used to analyze the expression of the different markers: CD44, CD74, CD133, tyrosine hydroxylase, endothelin receptors type A (ETA) and B (ETB), p75, nestina y and Phox2b, all of them related to neural stem cell biology. The level of expression of the markers was then correlated with clinical variables. RESULTS: Nestin expression was positive in 72.2% of samples and ETA in 66.7%. PHOX2B and CD74 expression were lower, being positive in less than 30%. The markers CD44, ETB and PHOX2B were expressed in more aggressive tumors. ETA expression correlated significantly with unfavorable histology tumors (p= 0.01), N-myc amplification (p= 0.05) and recurrence/progression (p= 0.05). CONCLUSION: The expression of CD44, ETB and ETA was associated with more aggressive tumors and poor prognostic factors. These markers are in the membrane of neural stem cells and may be useful to identify and isolate by flow cytometry CSCs of NB for the study of new therapeutic targets.

Hallazgos histológicos y seguimiento clínico de pacientes con mEn 2 tras tiroidectomía profiláctica / Clinical follow up and histological findings of patients With men2 treated With prophylactic thyroidectomy

Objetivo. Presentar nuestra experiencia en el manejo profiláctico mediante tiroidectomía del carcinoma medular tiroideo, revisando la correlación entre los hallazgos clínicos, analíticos, histopatológicos y genéticos en sujetos con síndrome de neoplasia endocrina múltiple tipo 2A (MEN 2A) y carcinoma medular familiar de tiroides (CMFT).materiales y métodos. Estudio retrospectivo mediante revisión de historias clínicas de pacientes con diagnóstico de MEN 2A o CMFT, derivados a nuestra consulta tras consejo genético desde 1997 hasta 2011. Se analizaron las variables sexo, edad al diagnóstico y a la cirugía, valores pre y postoperatorios de calcitonina (y metanefrinas en pacientes con MEN 2A), hallazgos histopatológicos, seguimiento y supervivencia. Resultados. Se identificaron 13 pacientes con antecedentes familiares de CMT, 9 mujeres y 4 varones, 11 portadores de mutación en protooncogén RET para MEN 2A y 2 no portadores (CMFT). La edad media al diagnóstico fue 4,2 años (rango: 1,8-8,2). Todos los pacientes fueron tratados mediante tiroidectomía total con una edad media de 6 años (rango: 4,1-8,5). Los hallazgos histopatológicos demostraron 7 casos de hiperplasia nodular de células C, 2 microcarcinomas, 1 carcinoma multicéntrico, 1 tiroiditis linfocitaria y 2 sin evidencia de enfermedad. La calcitonina preoperatoria estaba elevada en 3 casos, coincidiendo en uno con histopatología de microcarcinoma. Todos los pacientes se encuentran libres de enfermedad.Conclusiones. La tiroidectomía profiláctica precoz es la única herramienta preventiva y curativa para el CMT en pacientes susceptibles genéticamente de padecerlo. Es imprescindible la creación de equipos multidisciplinarios (Endocrinología, Genética Clínica y Cirugía Pediátrica) para el estudio, manejo y seguimiento de los pacientes con MEN 2A y sus familias (AU)

Objective. To present our experience in the prophylactic management of the medullary thyroid carcinoma (MTC), reviewing the correlation between clinical, analytical, histopathological, and genetic findings on subjects with type 2A multiple endocrine neoplasia (MEN 2A) and familial MTC.material and methods. A retrospective study was done by reviewing the medical records of patients diagnosed with MEN 2A or familial MTC, between 1997 and 2011. The variables studied were sex, age at the time of diagnosis, age at the time of surgery, pre and post operative Calcitonin levels, pre and post op Metanephrine levels in patients with MEN 2A, histopathological findings, follow up and overall survival.Results. Thirteen patients were identified with family history of MTC, 9 females and 4 males. Eleven carriers of mutation on RET proto-oncongene for MEN 2A and no carriers for Familial MTC. The median age at the time of diagnosis was 4.2 years (range: 1.8 to 8.2). All patients were treated with total thyroidectomy, with a median age of 6 years (range: 4.08 to 8.5). The histopathological findings demonstrated 7 cases of C-Cells nodular hyperplasia, 2 micro-carcinomas, 1 multicentric carcinoma, 1 lymphocytic thyroiditis and 2 without evidence of disease. Elevated pre operative Calcitonin levels were found in 3 cases, correlated with one histopathological finding of micro-carcinoma. All patients are disease free.Conclusion. In patients with genetic predisposition to suffer the disease, early prophylactic thyroidectomy is the only current available approach to prevent and cure MTC.The creation of a multidisciplinary team (Endocrinology, clinical genetics, and pediatric surgery), is necessary to study, manage and follow up patients with MEN 2A and their families (AU)