RESUMO
The great majority of thyroid cancers are of the non-medullary type. Here we report findings from a genome-wide association study of non-medullary thyroid cancer, including in total 3,001 patients and 287,550 controls from five study groups of European descent. Our results yield five novel loci (all with Pcombined<3 × 10-8): 1q42.2 (rs12129938 in PCNXL2), 3q26.2 (rs6793295 a missense mutation in LRCC34 near TERC), 5q22.1 (rs73227498 between NREP and EPB41L4A), 10q24.33 (rs7902587 near OBFC1), and two independently associated variants at 15q22.33 (rs2289261 and rs56062135; both in SMAD3). We also confirm recently published association results from a Chinese study of a variant on 5p15.33 (rs2736100 near the TERT gene) and present a stronger association result for a moderately correlated variant (rs10069690; OR=1.20, P=3.2 × 10-7) based on our study of individuals of European ancestry. In combination, these results raise several opportunities for future studies of the pathogenesis of thyroid cancer.
Assuntos
Carcinoma Papilar/genética , Loci Gênicos , Estudo de Associação Genômica Ampla , Neoplasias da Glândula Tireoide/genética , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , Cromossomos Humanos/genética , Feminino , Regulação Neoplásica da Expressão Gênica , Frequência do Gene/genética , Predisposição Genética para Doença , Variação Estrutural do Genoma , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Hormônios Hipofisários/análise , Fatores de Risco , Câncer Papilífero da Tireoide , Glândula Tireoide/metabolismo , Neoplasias da Glândula Tireoide/metabolismo , População Branca/genética , Sequenciamento Completo do GenomaRESUMO
The laparoscopic adrenalectomy is considered as the procedure of choice for the treatment of adrenal hyperplasia and tumor lesions. However, some special situations may limit the use of this method due to the difficulty to locate the gland and perform the lesion excision. We analyze 2 patients of a left adrenal tumor, explaining how they have overcome the difficulties in both situations. The first case was a patient with a history of intra-abdominal surgery and the other patient suffered from severe obesity. We performed with the use of the gamma probe, and the 2 cases, was of great help to access and glandular localization. The help of gamma probe test was achieved in the surgical bed, that removal was complete. The use of the portable gamma probe facilitated the access to the left adrenal gland as well as conducting the glandular excision without delay, despite the difficulties due to the intra abdominal surgery caused by the previous surgery, and in the case of severe obesity.
Assuntos
Adrenalectomia/métodos , Compostos Radiofarmacêuticos , Adenoma/cirurgia , Neoplasias das Glândulas Suprarrenais/cirurgia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
The extirpation of Meckel's diverticulum (MD) via conventional or laparoscopic surgery is the definitive treatment. However, certain circumstances may modify or alter this situation and require the application of exceptional measures.We report a case under our observation who previously had an exploratory abdominal laparotomy for a suspected MD; however, the findings were negative. At that time, the diagnosis was established based on low-level gastrointestinal bleeding and isotopic tests that confirmed the existence of the diverticulum. Given the findings of gamma-graphic exploration and the previous negative surgical exploration, a decision was made to remove the lesion by laparoscopic radioguided surgery.The patient underwent bilateral laparoscopic radioguided surgery using a gamma radiation detection probe. The exploration of the abdominal cavity noted the existence of the diverticulum about 60 to 70â cm from the ileocecal valve. In this way, it was possible to proceed with the resection of the bowel loop and perform an intracorporeal anastomosis termino lateral. The postoperative course was uneventful, and the patient was discharged on the fifth postoperative day.We believe that the combination of radioguided surgery and single photon emission computed tomography/computed tomography could be useful for treating lesions in locations that are surgically difficult because of the characteristics of the lesion itself or the peculiarities of an individual patient.
Assuntos
Divertículo Ileal/cirurgia , Compostos Radiofarmacêuticos , Pertecnetato Tc 99m de Sódio , Adulto , Humanos , Doenças do Íleo/etiologia , Laparoscopia , Laparotomia/efeitos adversos , Masculino , Divertículo Ileal/diagnóstico por imagem , Cintilografia , Aderências Teciduais/etiologiaRESUMO
To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer. The remaining 21 SNPs were genotyped in 561 Icelandic individuals with thyroid cancer (cases) and up to 40,013 controls. Variants suggestively associated with thyroid cancer (P < 0.05) were genotyped in an additional 595 non-Icelandic cases and 2,604 controls. After combining the results, three variants were shown to associate with thyroid cancer: rs966423 on 2q35 (OR = 1.34; P(combined) = 1.3 × 10(-9)), rs2439302 on 8p12 (OR = 1.36; P(combined) = 2.0 × 10(-9)) and rs116909374 on 14q13.3 (OR = 2.09; P(combined) = 4.6 × 10(-11)), a region previously reported to contain an uncorrelated variant conferring risk of thyroid cancer. A strong association (P = 9.1 × 10(-91)) was observed between rs2439302 on 8p12 and expression of NRG1, which encodes the signaling protein neuregulin 1, in blood.
Assuntos
Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 2/genética , Cromossomos Humanos Par 8/genética , Loci Gênicos/genética , Predisposição Genética para Doença/genética , Neoplasias da Glândula Tireoide/genética , Tireotropina/metabolismo , Variação Genética , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Islândia , Neuregulina-1/sangue , Neuregulina-1/genética , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
A 57-year-old woman with infiltrating ductal carcinoma of the right breast underwent lymph node scintigraphy with Tc-99m-nanocolloid for preoperative sentinel node localization. On planar images, an unusual pattern of lymphatic drainage was observed. We performed a chest SPECT/CT, revealing an interpectoral sentinel node, ie, Rotter's node. The patient underwent radioguided surgery and the sentinel node was located intraoperatively, and found to be disease-free. SPECT/CT fusion techniques have enhanced precision in locating sentinel nodes, enabling the surgeon to shorten surgical times.
Assuntos
Linfonodos/diagnóstico por imagem , Agregado de Albumina Marcado com Tecnécio Tc 99m , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Carcinoma Ductal/diagnóstico por imagem , Carcinoma Ductal/patologia , Carcinoma Ductal/cirurgia , Feminino , Humanos , Linfonodos/patologia , Pessoa de Meia-Idade , Radiocirurgia , Tomografia Computadorizada de Emissão de Fóton Único , Tomografia Computadorizada por Raios XRESUMO
In order to search for sequence variants conferring risk of thyroid cancer we conducted a genome-wide association study in 192 and 37,196 Icelandic cases and controls, respectively, followed by a replication study in individuals of European descent. Here we show that two common variants, located on 9q22.33 and 14q13.3, are associated with the disease. Overall, the strongest association signals were observed for rs965513 on 9q22.33 (OR = 1.75; P = 1.7 x 10(-27)) and rs944289 on 14q13.3 (OR = 1.37; P = 2.0 x 10(-9)). The gene nearest to the 9q22.33 locus is FOXE1 (TTF2) and NKX2-1 (TTF1) is among the genes located at the 14q13.3 locus. Both variants contribute to an increased risk of both papillary and follicular thyroid cancer. Approximately 3.7% of individuals are homozygous for both variants, and their estimated risk of thyroid cancer is 5.7-fold greater than that of noncarriers. In a study on a large sample set from the general population, both risk alleles are associated with low concentrations of thyroid stimulating hormone (TSH), and the 9q22.33 allele is associated with low concentration of thyroxin (T(4)) and high concentration of triiodothyronine (T(3)).
Assuntos
Cromossomos Humanos Par 4 , Cromossomos Humanos Par 9 , Predisposição Genética para Doença/genética , Variação Genética , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/genética , Mapeamento Cromossômico , Proteínas de Ligação a DNA/genética , Europa (Continente)/epidemiologia , Fatores de Transcrição Forkhead/genética , Humanos , Tireotropina/sangue , Tiroxina/sangue , Fatores de Transcrição , Tri-Iodotironina/sangueRESUMO
Procedure guidelines for scintigraphic detection of sentinel node in breast cancer are presented.
Assuntos
Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/patologia , Linfonodos/diagnóstico por imagem , Linfonodos/patologia , Guias de Prática Clínica como Assunto/normas , Padrões de Prática Médica/normas , Cintilografia/normas , Neoplasias da Mama/secundário , Humanos , Itália , Metástase LinfáticaRESUMO
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