Neoplasia tiroidea folicular no invasiva con características nucleares de tipo papilar (NIFTP): Reporte de un caso / Noninvasive follicular thyroid neoplasm with papil-lary-like nuclear features (NIFTP): A case report

Introducción: En la última década ha habido un incremento en la incidencia del cáncer diferenciado de tiroides, especialmente de microcarcinomas, cuyo comportamiento suele ser indolente, existiendo sobrediagnósticos y terapias agresivas innecesarias con grandes implicaciones económicas. El objetivo del presente estudio fue describir un caso de un paciente con una neoplasia tiroidea con bajo potencial maligno, cuyo tratamiento es netamente quirúrgico. Caso clínico: Hombre de 36 años sometido a cirugía por nódulo tiroideo clasificado Bethesda VI donde la histopatológica postquirúrgica evidenció una neoplasia tiroidea folicular no invasiva con características nucleares papilar (NIFTP). La evolución fue favorable, no necesitó sustitución de levo tiroxina ni yodo radioactivo. Discusión: Las variantes foliculares no invasivas del CPT tienen un potencial maligno muy bajo, por lo que la ATA la clasificó como neoplasia de bajo riesgo cuyo tratamiento es netamente quirúrgico, cambiando su nombre a NIFTP. Conclusión: NIFTP tiene excelente pronóstico, siendo suficiente la hemitiroidectomía en la mayoría de los casos.

Introduction: In the last decade, there has been an increase in the incidence of differentiated thyroid cancer, especially microcarcinomas, whose behavior is usually indolent, with overdiagnosis and unnecessary aggressive therapies with significant economic implications. This study's objective was to describe a patient with a thyroid neoplasm with low malignant potential whose treatment is purely surgical. Clinical case: A 36-year-old man underwent surgery for a thyroid nodule classified Bethesda VI, where the post-surgical histopathology showed a non-invasive follicular thyroid neoplasm with nuclear papillary characteristics (NIFTP). The evolution was favorable; he did not need the substitution of levothyroxine or radioactive iodine. Discussion: Non-invasive follicular variants of PTC have a meager malignant potential, so the ATA classified it as a low-risk neoplasm whose treatment is purely surgical, changing its name to NIFTP. Conclusion: NIFTP has an excellent prognosis, hemithyroidectomy being sufficient in most cases.

Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease and pancreatic insufficiency among other symptoms, which are reliant on the individual's genotype. The Ecuadorian population is a mixture of Native Americans, Europeans, and Africans. That population admixture could be the reason for the new mutations reported in a previous study by Ruiz et al. (2019). A panel of 46 Ancestry Informative Markers was used to estimate the ancestral proportions of each available sample (12 samples in total). As a result, the Native American ancestry proportion was the most prevalent in almost all individuals, except for three patients from Guayaquil with the mutation [c.757G>A:p.Gly253Arg; c.1352G>T:p.Gly451Val] who had the highest European composition.

Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.

BACKGROUND: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador. METHODS: Cytogenetic registers from different Ecuadorian provinces have been merged and analyzed to construct an open-access national registry of chromosome alterations and polymorphisms. RESULTS: Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%). Complementary to conventional cytogenetics tests, molecular tools have allowed identification of submicroscopic alterations regions or candidate genes which can be possibly implicated in patients' symptoms and phenotypes. CONCLUSION: The Ecuadorian National Registry of Chromosome Alterations and Polymorphisms provides a baseline to better understand chromosomal abnormalities in Ecuador and therefore their clinical management and awareness. This data will guide public policy makers to promote and financially support cytogenetic and genetic testing.

Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing.

The frequency distributions of cystic fibrosis variants are heterogeneous in Ecuador because of the genetic admixture of its population. The aim of this study was to identify disease-causing variants among Ecuadorian cystic fibrosis (CF) patients by next-generation sequencing (NGS) of the entire cystic fibrosis transmembrane conductance regulator (CFTR) gene. The results showed an approximation of the frequencies of pathogenic variants in the population under study and an optimal mutation panel for routine first-line CF molecular diagnosis. One hundred and forty-one patients with suspected CF from the 3 largest Ecuadorian cities (Guayaquil, Quito, and Cuenca) were studied. One hundred and seventy mutated alleles were detected in eighty-five individuals. Twenty-eight disease-causing variants were identified, with p.Phe508del and p.His609Arg being the most frequent (both 24.7%) followed by p.Gly85Glu (11.1%), p.Leu15Pro (9.4%), p.Asn1303Lys (4.1%), and p.Gly542* (2.3%). Together, these variants constituted 76.44% of the detected disease-causing variants. The following six novel potentially disease-associated variants were detected: 3 deletions (CFTR_dele10, CFTR_dele12, and c.2672delA), 1 nonsense variant (p.Cys491*), 1 missense variant (p.Trp496Arg), and 1 complex allele (p.[Gly253Arg;Gly451Val]). The remaining mutations occurred in isolation and were present in the databases.

Genotypes distribution of human papillomavirus in cervical samples of Ecuadorian women.

INTRODUCTION: Human papillomavirus (HPV) is considered a necessary causative agent for developing oropharyngeal, anal and cervical cancer. Among women in Ecuadorian population, cervical cancer ranks as the second most common gynecological cancer. Not many studies about HPV burden have been published in Ecuador, and genotypes distribution has not been established yet. The little data available suggest the presence of other genotypes different than 16 and 18. OBJECTIVES: In the present study, we attempt to estimate the prevalence of HPV 16, HPV 18 and other 35 genotypes among Ecuadorian women undergoing cervical cancer screening. The overall prevalence of HPV infection was also estimated. METHODS: Routine cervical samples were analyzed using Linear Array(r) HPV Genotyping test (Roche). RESULTS: A total of 1,581 cervical samples obtained from Ecuadorian women undergoing cervical cancer screening were included in this study. HPV DNA was detected in 689 cervical samples (43.58%). Of these samples, 604 (38.20%) were positive for a single HPV genotype, while another 85 (5.37%) samples were positive for multiple HPV types. Genotype 16 (5.50%) resulted in the most frequently detected type in both single and multiple infections. HPV 33 (4.55%) and HPV 11 (3.80%) occupied the second and the third place in frequency among all detected genotypes. CONCLUSIONS: Viral genotypes different from HPV 16 and HPV 18 are frequently detected among Ecuadorian women. The overall prevalence of HPV resulted higher than the one reported in other South American countries with a greater burden in the second and third decades of life.

Genotypes distribution of human papillomavirus in cervical samples of Ecuadorian women / Distribuição dos genótipos de papilomavírus humano em amostras de colo do útero de mulheres equatorianas

ABSTRACT: Introduction: Human papillomavirus (HPV) is considered a necessary causative agent for developing oropharyngeal, anal and cervical cancer. Among women in Ecuadorian population, cervical cancer ranks as the second most common gynecological cancer. Not many studies about HPV burden have been published in Ecuador, and genotypes distribution has not been established yet. The little data available suggest the presence of other genotypes different than 16 and 18. Objectives: In the present study, we attempt to estimate the prevalence of HPV 16, HPV 18 and other 35 genotypes among Ecuadorian women undergoing cervical cancer screening. The overall prevalence of HPV infection was also estimated. Methods: Routine cervical samples were analyzed using Linear Array(r) HPV Genotyping test (Roche). Results: A total of 1,581 cervical samples obtained from Ecuadorian women undergoing cervical cancer screening were included in this study. HPV DNA was detected in 689 cervical samples (43.58%). Of these samples, 604 (38.20%) were positive for a single HPV genotype, while another 85 (5.37%) samples were positive for multiple HPV types. Genotype 16 (5.50%) resulted in the most frequently detected type in both single and multiple infections. HPV 33 (4.55%) and HPV 11 (3.80%) occupied the second and the third place in frequency among all detected genotypes. Conclusions: Viral genotypes different from HPV 16 and HPV 18 are frequently detected among Ecuadorian women. The overall prevalence of HPV resulted higher than the one reported in other South American countries with a greater burden in the second and third decades of life.

RESUMO: Introdução: O papilomavírus humano (HPV) é considerado agente causador necessário para o desenvolvimento de câncer da orofaringe, do colo do útero e anal. Na população feminina do Equador, o câncer de colo do útero é o segundo câncer ginecológico mais comum. No Equador, o número de estudos publicados sobre o HPV é pequeno, e a distribuição de genótipos ainda não foi estabelecida. Os dados limitados sugerem a presença de outros genótipos diferentes dos tipos 16 e 18. Objetivos: No presente estudo, foi estimada a prevalência de HPV 16, HPV 18 e outros 35 genótipos entre as mulheres equatorianas submetidas ao exame de rastreamento para câncer do colo do útero. Métodos: Amostras cervicais de rotina foram analisadas pelo (método) Linear Array(r) VPH (Roche). Resultados: Foram incluídas neste estudo 1.581 amostras cervicais de mulheres equatorianas. O HPV foi detectado em 689 (43,58%) amostras cervicais. Destas, 604 (38,20%) foram positivas para somente um genótipo de HPV, enquanto 85 (5.37%) amostras foram positivas para vários tipos. O genótipo 16 (5,50%) foi a variante mais frequentemente detectada nos casos com infecção única ou múltipla. HPV 33 (4,55%) e HPV 11 (3,80%) ficaram, respectivamente, em segundo e terceiro lugar em frequência entre todos os genótipos detectados. Conclusões: Outros genótipos virais de alto risco diferentes do que HPV 16 e HPV 18 são frequentemente detectados entre as mulheres equatorianas. A prevalência global de infecção cervical pelo HPV foi maior do que a observada em outros países da América do Sul.

Analysis of CFTR gene mutations and cystic fibrosis incidence in the Ecuadorian population.

Ecuador is one of the Latin American countries where cystic fibrosis has not been thoroughly studied. The goal of this study was to establish the incidence of this specific pathology and the incidence of the 29 most common European CF mutations in Ecuador's population. We performed a prospective-descriptive study with the intention of including patients registered at the Ecuadorian Cystic Fibrosis Foundation as well as the main pediatric hospitals in Ecuador. The inclusion criteria were clinical manifestations of cystic fibrosis plus two positive pilocarpine iontophoresis sweat tests (CI >60 mEq/L). We tested F508del mutation by heteroduplex method and then, we confirmed these results and searched for other 28 frequent European-mutations aside from F508del by a reverse dot blot technique (INNO-LiPA CFTR 29 + Tn). Sixty two unrelated patients were included. Both heteroduplex and reverse dot blot methods identified 53.22% of all mutations. The estimated Ecuadorian cystic fibrosis incidence was 1:11,252. The mutations found and their incidence were F508del (37.1%), G85E (8.9%), G542X (2.4%), N1303K (2.4%), G551D (1.6%) and R334W (0.8%). The incidence of cystic fibrosis in Ecuador is closely similar to other Latin American countries where there is a large "mestizo" population. We are reporting one of the highest incidences of G85E in the world.

Analysis of CFTR gene mutations and cystic fibrosis incidence in the ecuatorian population

Ecuador es uno de los países latinoamericanos donde la fibrosis quística no ha sido profundamente estudiada. El objetivo de este estudio fue establecer la incidencia de esta patología identificar las 29 mutaciones europeas mas frecuentes que afectan a los pacientes fibroquísticos ecuatorianos. Se realizó un estudio descriptivo-prospectivo que incluyó pacientes provenientes de las Fundación Fibrosis Quística y de los principales hospitales pediátricos del Ecuador. Los criterios de inclusión fueron la presencia de manifestaciones clínicas clásicas de fibrosis quística más dos pruebas del sudor por iontoforesis de pilocarpina positivas CI > 60 mEq/L. Se utilizó heteroduplex para identificar la mutación F508del y posteriormente se confirmó dichos resultados e identificó otras 28 mutaciones frecuentes de la población europea utilizando un test de hibridación reversa in situ (INNO-LiPA CFTR 29 + Tn). Sesenta y dos pacientes fueron incluidos y se logró identificar el 53,22 por ciento de todos los alelos mutados. Las mutaciones encontradas fueron F508del (37,1 por ciento), G85E (8,9 por ciento), G542X (2,4 por ciento), N1303K (2,4 por ciento), G551D (1,6 por ciento) y R334W (0,8 por ciento). La incidencia estimada de la fibrosis quística en el Ecuador (1:11.252) es muy similar a la de otros países latinoamericanos que poseen un gran porcentaje de población mestiza. Reportamos una de las frecuencias más altas de la mutación G85E en el mundo.