RESUMO
BACKGROUND: Fluorodeoxyglucose (F-FDG) positron emission tomography/computed tomography (PET/CT) imaging is recommended in patients with metastatic pheochromocytoma (PC) and paraganglioma (PGL). There are no data on whether routine preoperative F-FDG PET/CT in all patients with PC/PGL impacts surgical management. OBJECTIVE: The aim of this study was to determine whether routine preoperative F-FDG PET/CT imaging affects the surgical management of patients with PC/PGLs. METHODS: We analyzed clinical, biochemical, genetic, and anatomic imaging data in 93 consecutive patients with PC/PGL who collectively underwent a total of 100 operations and who had preoperative F-FDG PET/CT imaging. RESULTS: Of 100 operations, preoperative F-FDG PET/CT showed additional lesions compared to anatomic imaging in 15 cases. These patients were more likely to undergo an open surgical approach (P < 0.05). Presence of genetic mutation, redo operations, sex, age, or tumor size had no significant association with finding additional lesions on F-FDG PET/CT. CONCLUSIONS: Additional lesions detected on preoperative F-FDG-PET/CT imaging have an impact on the surgical approach in patients with PC/PGLs. Therefore, surgeons should routinely obtain F-FDG-PET/CT imaging in patients with PC/PGL to allow for a more precise surgical intervention.
Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/cirurgia , Adrenalectomia/métodos , Fluordesoxiglucose F18/uso terapêutico , Paraganglioma/diagnóstico por imagem , Paraganglioma/cirurgia , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/cirurgia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Compostos Radiofarmacêuticos/uso terapêutico , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paraganglioma/secundário , Feocromocitoma/secundário , Medicina de Precisão , Cuidados Pré-Operatórios , Estudos Prospectivos , Adulto JovemRESUMO
Since Felix Fränkel's account of pheochromocytoma in 1886, great discoveries and vast advancements in the diagnosis, genetics, anatomical and functional imaging techniques, and surgical management of pheochromcytoma and paraganglioma (P-PGL) have been made. The improved insight in the pathophysiology of P-PGL and more accurate detection methods enable physicians to tailor the treatment plan to an individual based on the genetic profile and tumor behavior. This review will cover briefly the clinical features, diagnosis, genetic mutations, and imaging modalities that are used to guide current surgical management of these rare and interesting endocrinopathies.
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Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Medicina de Precisão , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/cirurgia , Humanos , Mutação , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Feocromocitoma/patologia , Feocromocitoma/cirurgiaRESUMO
BACKGROUND: Recurrent adrenocortical carcinoma (ACC) has a poor prognosis with minimal clinical and biochemical factors to guide management. The aim of this study was to evaluate the prognostic significance of systemic inflammatory response in patients with recurrent ACC. METHODS: Patients who underwent resection for recurrent ACC were retrospectively analyzed. Preoperative neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, lymphocyte-to-monocyte ratio (LMR), and mean platelet volume were calculated. RESULTS: Twenty-five patients (age at operation 52.2 ± 9.5 years) were identified. We observed a statistically significant shorter disease-specific survival (DSS) in patients with LMR less than 4 (41 ± 7.4 months vs 71 ± 12.3, P = .023) and male sex (26.6 ± 4.2 months vs 57.6 ± 9.5 months, P = .079), while time-to-recurrence (TTR) less than 12 months (40 ± 7.7 months vs 70.3 ± 13.1 months, P = .059) had a trend on univariate analysis for worse DSS. On multivariable analysis, LMR < 4 (hazard ratio [HR] 4.18; 95% confidence interval [CI]: 1.18-14.76; P = .027) and TTR less than 12 months (HR 2.77 95% CI: 1-7.62; P = .049) were found to be significantly associated with worse DSS. CONCLUSION: Preoperative LMR greater than 4 and TTR greater than 12 months are associated with longer DSS. Patients with LMR greater than 4 and TTR greater than 12 months may benefit from a more aggressive therapeutic approach and may require less frequent surveillance.
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Neoplasias do Córtex Suprarrenal/mortalidade , Carcinoma Adrenocortical/mortalidade , Contagem de Linfócitos , Monócitos/metabolismo , Recidiva Local de Neoplasia/mortalidade , Neoplasias do Córtex Suprarrenal/patologia , Neoplasias do Córtex Suprarrenal/cirurgia , Carcinoma Adrenocortical/patologia , Carcinoma Adrenocortical/cirurgia , Adulto , Biomarcadores/sangue , Contagem de Células , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/cirurgia , Período Pré-Operatório , Prognóstico , Estudos Retrospectivos , Fatores de TempoRESUMO
BACKGROUND: Lymph node metastasis is not common among patients with gastrointestinal stromal tumors (GISTs) and its prognostic value is controversial. The purposes of this study are to identify predictors of lymph node metastasis and determine its prognostic associations. METHODS: A retrospective analysis of the surveillance, epidemiology and end results (SEER) database was performed. Patients with GISTs that underwent surgery and pathologic nodal staging were identified. Logistic regression and Cox regression were performed to identify independent predictors and prognostic factors, respectively. RESULTS: Of 1430 patients (age: 61.5 ± 14.5 years, 52% males), 140 (9.8%) had lymph node metastasis. On multivariable analysis, distant metastasis was the only independent predictor of lymph node metastasis (OR 4.95, 95% CI: 2.43-10.08, p < 0.001). In the entire cohort, lymph node metastasis did not reflect a worse overall survival (OS, HR 1.12, 95% CI: 0.49-2.58, p = 0.794) or disease-specific survival (DSS, HR 0.95, 95% CI: 0.31-2.88, p = 0.924), but was an independent predictor of worse OS in 51 patients (25.4% of 201 patients) who presented with both lymph node metastasis and synchronous distant metastasis (HR 2, 95% CI: 1.25-3.21, p = 0.004). Lymph node metastasis was also independently associated with worse survival among patients with small intestinal (OS: HR 1.88, 95% CI: 1.15-3.1, p = 0.013) and colorectal tumors (OS: HR 3.41, 95% CI: 1.56-7.46, p = 0.002, DSS: HR 3.58, 95% CI: 1.27-10.06, p = 0.016). CONCLUSIONS: Metastatic disease is an independent predictor of lymph node metastasis in patients with GISTs. Lymph node metastasis is also associated with worse overall survival in patients with metastatic GISTs.
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Neoplasias Gastrointestinais/patologia , Tumores do Estroma Gastrointestinal/secundário , Idoso , Feminino , Neoplasias Gastrointestinais/mortalidade , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Análise de Regressão , Estudos Retrospectivos , Fatores de Risco , Programa de SEER , Taxa de SobrevidaRESUMO
BACKGROUND: Portomesenteric vein thrombosis following laparoscopic bariatric surgical procedures is a serious and potentially lethal complication. It is quite rare, and its clinical presentation, management, and sequelae remain poorly understood. METHODS: We searched PubMed, Medline, Google Scholar, Ovid, and Cochrane databases for articles reporting case series and systematic reviews in the English language on patients who underwent laparoscopic bariatric surgery and had a subsequent portal or mesenteric vein thrombosis. Articles discussing laparoscopic gastric banding were excluded. RESULTS: A total of 14 articles reporting on 36 cases were found. We analyzed the pooled data from these case reports and series with emphasis on number of reported patients, demographics, time of diagnosis, risk factors, symptoms, management, complications, and sequelae. CONCLUSIONS: Portomesenteric vein thrombosis is not uncommon following laparoscopic bariatric surgery and appears to occur more after laparoscopic sleeve gastrectomy. Bariatric surgeons should have a high index of suspicion for early detection and treatment of this potentially lethal complication. Obese patients at high risk for venous thrombosis should be screened for genetic predisposition for hypercoagulable state and should be considered for extended thromboprophylaxis postoperatively.
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Gastrectomia/métodos , Derivação Gástrica/métodos , Laparoscopia/métodos , Veias Mesentéricas , Obesidade Mórbida/cirurgia , Veia Porta , Complicações Pós-Operatórias/epidemiologia , Trombose Venosa/epidemiologia , Cirurgia Bariátrica/métodos , Humanos , Programas de Rastreamento , Fatores de Risco , Trombofilia/diagnóstico , Trombofilia/genéticaRESUMO
BACKGROUND: Invasive esophageal cancers have been managed historically with esophagectomy. Low-risk T1b patients are being proposed for nonsurgical management. The purpose of this study was to evaluate the ability of endoscopic mucosal resections (EMR) to identify low-risk T1b patients and to review surgical treatment outcomes for T1b cancer. METHODS: All esophageal cancer patients, in an institutional review board-approved prospective database, between 2000 and 2013 with clinical stage (cT1bN0), pathological stage (pT1bN0), and no neoadjuvant therapy were retrospectively reviewed. RESULTS: Fifty-one patients, 38 pT1b and 13 cT1b, were assessed. All cT1b had preoperative EMR and five were found to be understaged at esophagectomy. pT1bN0 patients had a mean age of 66 years, mean BMI of 30, and 95 % had adenocarcinoma. Thirty-eight pT1bN0 patients underwent esophagectomy with a median hospital length of stay (LOS) of 9 days. Complications occurred in 14 patients, but 71 % were minor (Accordion score 1-2). In-hospital 30- and 90-day mortality was zero. EMR specimens were re-reviewed to assess low-risk criteria. Degree of differentiation and the presence of lymphovascular invasion could be assessed in all EMR specimens; however, assessment of submucosal invasion limited to the superficial submucosal layer could not be determined in the majority of cases. Kaplan-Meier 5-year overall survival in pT1bN0 patients was 78.7 %. CONCLUSIONS: Clinical staging of superficial esophageal cancer can be inaccurate especially in submucosal tumors. EMR should be routinely used for preoperative staging. Healthy patients with clinical tumor stage greater than cT1a should undergo multidisciplinary review and be considered for surgical resection.
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Adenocarcinoma/patologia , Carcinoma de Células Escamosas/patologia , Ressecção Endoscópica de Mucosa/mortalidade , Neoplasias Esofágicas/patologia , Esofagectomia/mortalidade , Adenocarcinoma/cirurgia , Idoso , Carcinoma de Células Escamosas/cirurgia , Neoplasias Esofágicas/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
BACKGROUND: Previous reports comparing endoscopic therapy (ET) and surgical therapy (ST) have predominantly assessed patients with high-grade dysplasia. The study aim was to compare ET to ST in physiologically fit patients with cT1a adenocarcinoma (EAC). METHODS: Review of two prospective databases yielded 100 patients presenting with clinical cT1a EAC between 2000 and 2013. Only physiologically fit patients who were candidates for either treatment were analyzed. RESULTS: Presenting patient characteristics were similar between ET (n = 36) and ST groups (n = 49). Surgical patients were less likely to be staged with EMR (43 vs 100 %) and were associated with mass lesions >1 cm at EGD (p = 0.01), multifocal EAC (p = 0.03), and positive margins for EAC on EMR (p < 0.05). On multivariate analysis, only multifocal HGD was an independent factor for surgery. Following esophagectomy, R0 resection rates for Barrett's esophagus and cancer were 100 %. Incidence of surgery decreased over the study period from 85 to 25 %. All ET patients had EMR, and 28 patients underwent additional ablative therapies for Barrett's esophagus. Following ET, eradication rates of EAC, dysplasia, and BE were 92, 81, and 53 %, respectively. Morbidity rates were comparable between groups (ST 51 % vs ET 39 %, p = 0.31). In-hospital mortality rate was zero in each group. Recurrence rates in ST and ET group were 2 and 11 % (p = 0.08). In the ET group, two patients with endoluminal cancer recurrence after complete eradication underwent esophagectomy. Age-adjusted overall survival was comparable. CONCLUSION: In high-volume esophageal centers, ST and ET provide equally safe and effective treatment for cT1a EAC in medically fit patients. While the results of this study provide a historical perspective and clearly demonstrate an evolution toward ET over time, the appropriate treatment modality is best selected in a multidisciplinary fashion with EMR providing the most accurate staging. In endoscopically treated patients, indefinite endoscopic follow-up required, however, standardized long-term follow-up protocols are needed.
Assuntos
Adenocarcinoma/cirurgia , Esôfago de Barrett/cirurgia , Neoplasias Esofágicas/cirurgia , Esofagoscopia , Adenocarcinoma/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Esofágicas/patologia , Esofagectomia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Equipe de Assistência ao PacienteRESUMO
BACKGROUND: Few reports from the medical literature have presented severe mesh-related complications following laparoscopic repair of inguinal hernia. One of these complications is being mesh erosion into bowel, resulting in fistulous tract with subsequent abscess formation. CASE PRESENTATION: A 75-year-old patient, status post laparoscopic bilateral inguinal hernia repair, and on anticoagulation for dual prosthetic heart valves, presented with a unique case of sigmoid to scrotal fistula, post mesh erosion, resulting in sepsis. The patient presented in septic shock, necessitating an individualized surgical approach. Given the septic picture of our patient, the surgical approach was truncated. Initially the sepsis from the scrotum was drained and debrided. A watermelon seed was noted in the scrotum. After stabilization, the second stage approach was performed, were a laparotomy was performed, followed by division of the sigmoid to internal ring fistula, and reperitonealization of the mesh. Mesh removal was delayed as the risk of bleeding into the peritoneum was high, once anticoagulation needed to be resumed. Because of a persistent wound sinus tract, several months later, the mesh was removed, in a third stage, from an inguinal incision. Albeit meticulous dissection and homeostasis, a postoperative extraperitoneal inguinal hematoma developed, as expected, on day 2, once anticoagulation was resumed. CONCLUSION: Sigmoid to inguinoscrotal fistula is a rare, yet serious, complication of mesh infection and erosion. This can be obviated by preventing serosal tear, and proper peritonealization of the mesh. Fistulectomy alone with primary repair turned out to be a valid approach in our patient. Retaining the mesh could be an alternative for avoiding bleeding in patients on anticoagulation; despite that a persistent indolent infection and sinus tract will necessitate mesh removal afterwards.
Assuntos
Anticoagulantes/uso terapêutico , Fístula/etiologia , Hérnia Inguinal/cirurgia , Fístula Intestinal/etiologia , Complicações Pós-Operatórias , Escroto , Doenças do Colo Sigmoide/etiologia , Telas Cirúrgicas , Idoso , Anticoagulantes/efeitos adversos , Drenagem , Falha de Equipamento , Fístula/cirurgia , Hematoma/etiologia , Humanos , Fístula Intestinal/cirurgia , Laparoscopia , Masculino , Peritônio/cirurgia , Complicações Pós-Operatórias/cirurgia , Escroto/cirurgia , Choque Séptico/etiologia , Doenças do Colo Sigmoide/cirurgiaRESUMO
BACKGROUND: There are conflicting reports on whether familial nonmedullary thyroid cancer is more aggressive than sporadic nonmedullary thyroid cancer. Our aim was to determine if the clinical and pathologic characteristics of familial nonmedullary thyroid cancer are different than nonmedullary thyroid cancer. METHODS: We compared patients with familial nonmedullary thyroid cancer to a cohort of 53,571 nonmedullary thyroid cancer patients from the Surveillance, Epidemiology, and End Results database. RESULTS: A total of 78 patients with familial nonmedullary thyroid cancer from 31 kindreds presented at a younger age (Pâ¯=â¯.04) and had a greater rate of T1 disease (Pâ¯=â¯.019), lymph node metastasis (Pâ¯=â¯.002), and the classic variant of papillary thyroid cancer on histology (P < .001) compared with the Surveillance, Epidemiology, and End Results cohort. Patients with ≥3 affected family members presented at a younger age (Pâ¯=â¯.04), had a lesser female-to-male ratio (Pâ¯=â¯.04), and had a greater rate of lymph node metastasis (Pâ¯=â¯.009). Compared with the Surveillance, Epidemiology, and End Results cohort, we found a higher prevalence of lymph node metastasis in familial nonmedullary thyroid cancer index cases (Pâ¯=â¯.003) but not in those diagnosed by screening ultrasonography (Pâ¯=â¯.58). CONCLUSION: Patients with familial nonmedullary thyroid cancer present at a younger age and have a greater rate of lymph node metastasis. The treatment for familial nonmedullary thyroid cancer should be more aggressive in patients who present clinically and in those who have ≥3 first-degree relatives affected.
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Carcinoma Medular/congênito , Neoplasia Endócrina Múltipla Tipo 2a/patologia , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Adulto , Distribuição por Idade , Carcinoma Medular/epidemiologia , Carcinoma Medular/patologia , Carcinoma Medular/cirurgia , Estudos de Coortes , Feminino , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/epidemiologia , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Esvaziamento Cervical/estatística & dados numéricos , Programa de SEER , Distribuição por Sexo , Câncer Papilífero da Tireoide/epidemiologia , Câncer Papilífero da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/estatística & dados numéricos , Estados Unidos/epidemiologiaRESUMO
Importance: Neuroendocrine tumors (NETs) express somatostatin receptors, which can be targeted with radiolabeled peptides. In a variety of solid tumors, radioguided surgery (RGS) has been used to guide surgical resection. Gallium 68 (68Ga) dota peptides have been shown to be more accurate than other radioisotopes for detecting NETs. A pilot study previously demonstrated the feasibility and safety of 68Ga-dotatate RGS for patients with NETs. Objective: To evaluate what intraoperative techniques and thresholds define positive lesions that warrant resection during 68Ga-dotatate RGS. Design, Setting, and Participants: This prospective cohort study, conducted between October 23, 2013, and February 14, 2018, included 44 patients with NETs who underwent 68Ga-dotatate RGS. Intervention: Gallium 68-dotatate RGS. Main Outcomes and Measures: The in vivo and ex vivo tumor to background ratio (TBR) was assessed for resected lesions and correlated with the histopathologic findings. Results: Forty-four patients (22 women and 22 men; mean [SD] age, 51.0 [13.7] years) had 133 lesions detected on preoperative imaging scans, with a diagnosis of a pancreatic NET (19 of 44 [43%]), gastrointestinal NET (22 of 44 [50%]), and pheochromocytoma or paraganglioma (3 of 44 [7%]). The TBR was obtained by normalizing to the omentum (106 of 133 [79.7%]) or other solid organs (27 of 133 [20.3%]). The omentum had a significantly lower mean (SD) count than other solid organs for background count activity 3 hours after injection (22.1 [17.0] vs 34.5 [39.0]; P < .001). The lesions containing NETs had a higher TBR than those that did not contain NETs (18.9 vs 4.4; P < .001). On a receiver operating characteristic curve analysis, a TBR of 2.5 had a sensitivity of 90% and a specificity of 25%, and a TBR of 16 had a sensitivity of 54% and a specificity of 81%. Conclusions and Relevance: A TBR of 2.5 or greater is a highly sensitive threshold for indicating a lesion to be consistent with a NET on histologic findings and thus warranting surgical resection. The omentum should be used as the background count activity for 68Ga-dotatate RGS for patients with abdominal NETs.
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Neoplasias Gastrointestinais/cirurgia , Tumores Neuroendócrinos/cirurgia , Neoplasias Pancreáticas/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Compostos Organometálicos , Paraganglioma/cirurgia , Feocromocitoma/cirurgia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Tomografia por Emissão de Pósitrons/métodos , Estudos Prospectivos , Compostos Radiofarmacêuticos , Cirurgia Assistida por Computador/métodos , Resultado do TratamentoRESUMO
A 36-year-old male patient initially presented with hypertension, tinnitus, bilateral carotid masses, a right jugular foramen, and a periaortic arch mass with an elevated plasma dopamine level but an otherwise normal biochemical profile. On surveillance MRI 4 years after initial presentation, he was found to have a 2.2-cm T2 hyperintense lesion with arterial enhancement adjacent to the gallbladder, which demonstrated avidity on 68Ga-DOTATATE PET/CT and retrospectively on 18F-FDOPA PET/CT but was non-avid on 18F-FDG PET/CT. Biochemical work-up including plasma catecholamines, metanephrines, and chromogranin A levels were found to be within normal limits. This lesion was surgically resected and was confirmed to be a paraganglioma (PGL) originating from the gallbladder wall on histopathology. Pheochromocytoma (PHEO) and PGL are rare tumors of the autonomic nervous system. Succinate dehydrogenase subunit D (SDHD) pathogenic variants of the succinate dehydrogenase complex are usually involved in parasympathetic, extra-adrenal, multifocal head, and neck PGLs. We report an unusual location of PGL in the gallbladder associated with SDHD mutation which could present as a potential pitfall on 18F-FDOPA PET/CT as its normal excretion occurs through biliary system and gallbladder. This case highlights the superiority of 68Ga-DOTATATE in comparison to 18F-FDOPA and 18F-FDG in the detection of SDHD-related parasympathetic PGL. ClinicalTrials.gov Identifier: NCT00004847.
RESUMO
Context: Patients taking exogenous glucocorticoids are at risk for gastrointestinal (GI) complications, including peptic ulcer disease with perforation and gastric bleeding. However, little is known about the GI comorbidity in patients with endogenous hypercortisolemia. Case Descriptions: We describe six patients with endogenous Cushing syndrome (CS) who developed sudden perforation of colonic diverticula necessitating urgent exploratory laparotomy. Most of these patients shared the following features of CS: skin thinning, severe hypercortisolemia (24-hour urinary free cortisol ≥10 times the upper limit of normal), ectopic secretion of ACTH, and severe hypokalemia. At the time of diagnosis of diverticular perforation (DP), these patients had minimal signs of peritonitis and lacked fever or marked leukocytosis. The diagnosis of DP was established by having a low threshold for obtaining an imaging study for evaluation of nonspecific abdominal pain. Conclusions: Patients with CS can develop spontaneous surgical abdomen with rapid decompensation within hours. Prompt recognition is critical in the successful treatment of these patients.
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Síndrome de Cushing/complicações , Divertículo do Colo/etiologia , Úlcera Péptica Perfurada/etiologia , Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Síndrome de Cushing/patologia , Divertículo do Colo/patologia , Úlcera Duodenal/complicações , Úlcera Duodenal/patologia , Evolução Fatal , Feminino , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Úlcera Péptica Perfurada/patologiaRESUMO
BACKGROUND: Approximately 10% of patients with primary hyperparathyroidism (PHPT) have hereditary disease. Hereditary PHPT may be syndromic (MEN1, 2, and 4 and hyperparathyroidism-jaw tumor syndrome) or non-syndromic (familial isolated PHPT). There are limited data on the probability of testing positive for genetic mutation based on clinical presentation. The aim of this study was to determine potential associations between clinical and biochemical features and mutation in susceptibility genes for PHPT in patients with a family history of PHPT. STUDY DESIGN: A retrospective analysis of 657 patients who had an initial parathyroidectomy for PHPT at a tertiary referral center. Logistic regression analyses were performed in 205 patients with a family history of PHPT to identify factors associated with a positive genetic test. RESULTS: Of 657 patients, 205 (31.2%) had a family history of PHPT. Of those 205 patients, 123 (60%) had a germline mutation detected (91 MEN1, 14 CDC73, and 18 GCM2). In univariate analysis, younger age (45 years and younger), male sex, multigland disease, and parathyroid carcinoma were associated with positive germline mutation; biochemical cure after an initial parathyroidectomy was less frequent in patients with familial PHPT (96.2% vs 89.2%; p = 0.005). In multivariable analysis, age 45 years and younger, male sex, and multigland disease were independent factors associated with positive genetic testing. CONCLUSIONS: In addition to a family history of PHPT, male sex, age 45 years and younger, and presence of multigland disease, should prompt physicians to offer the opportunity for genetic counseling and testing, as it could influence the management of patients with PHPT.
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Testes Genéticos , Hiperparatireoidismo Primário/genética , Adulto , Fatores Etários , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Hiperparatireoidismo Primário/cirurgia , Masculino , Pessoa de Meia-Idade , Paratireoidectomia , Probabilidade , Estudos RetrospectivosRESUMO
BACKGROUND: Our knowledge of the susceptibility genes for pheochromocytomas/paragangliomas has increased; however, data on its impact on surgical decision-making has not been described. The aim of this study was to determine the effect of routine preoperative genetic testing on the operative intervention in patients with pheochromocytomas/paragangliomas. METHODS: One-hundred-eight patients diagnosed with pheochromocytomas/paragangliomas who underwent 118 operations had preoperative genetic testing for 9 known pheochromocytoma/paraganglioma susceptibility genes. A retrospective analysis of a prospective database was performed to evaluate clinical factors associated with the surgical approach selected and the outcome of the surgical intervention. RESULTS: In 51 patients (47%), a germline mutation was detected and one-third had no family history of pheochromocytoma/paraganglioma. In 77 operations (65%), it was the first operative intervention for the disease site (60 laparoscopic, 17 open), and 41 (35%) were reoperative interventions (36 open, 5 laparoscopic). For initial operations, variables associated with whether an open or laparoscopic approach was used were tumor size (P = .009) and presence of germline mutation (P = .042). Sixty-eight adrenal operations were performed (54 total, 14 cortical-sparing). Variables significantly associated with a cortical-sparing adrenalectomy being performed were the presence of germline mutation (P = .006) and tumor size (P = .013). CONCLUSION: Preoperative knowledge of the germline mutation status affects the surgical approach and extent of adrenalectomy.
Assuntos
Neoplasias das Glândulas Suprarrenais/cirurgia , Adrenalectomia/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Paraganglioma/cirurgia , Feocromocitoma/cirurgia , Adolescente , Neoplasias das Glândulas Suprarrenais/genética , Adrenalectomia/métodos , Adulto , Idoso , Criança , Pré-Escolar , Mutação em Linhagem Germinativa , Humanos , Pessoa de Meia-Idade , Paraganglioma/genética , Feocromocitoma/genética , Cuidados Pré-Operatórios , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Hereditary primary hyperparathyroidism may be syndromic or nonsyndromic (familial isolated hyperparathyroidism). Recently, germline activating mutations in the GCM2 gene were identified in a subset of familial isolated hyperparathyroidism. This study examined the clinical and biochemical characteristics and the treatment outcomes of GCM2 mutation-positive familial isolated hyperparathyroidism as compared to sporadic primary hyperparathyroidism. METHODS: We performed a retrospective analysis of clinical features, parathyroid pathology, and operative outcomes in 18 patients with GCM2 germline mutations and 457 patients with sporadic primary hyperparathyroidism. RESULTS: Age at diagnosis, sex distribution, race/ethnicity, and preoperative serum calcium concentrations were similar between the 2 groups. The preoperative serum levels of intact parathyroid hormone was greater in patients with GCM2-associated primary hyperparathyroidism (239 ± 394 vs 136 ± 113, P = .005) as were rates of multigland disease and parathyroid carcinoma in the GCM2 group (78% vs 14.3%, P < .001 and 5% vs 0%, P = .04, respectively), but the biochemical cure rate was less in the GCM2 group (86% vs 99%, P < .001). CONCLUSION: GCM2-associated primary hyperparathyroidism patients have greater preoperative parathyroid hormone levels, a greater rate of multigland disease, a lesser rate of biochemical cure, and a substantial risk of parathyroid carcinoma. Knowledge of these clinical characteristics could optimize the surgical management of GCM2-associated familial isolated hyperparathyroidism.
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Hiperparatireoidismo Primário/genética , Proteínas Nucleares/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Idoso , Feminino , Mutação em Linhagem Germinativa , Humanos , Hiperparatireoidismo Primário/patologia , Masculino , Pessoa de Meia-Idade , Glândulas Paratireoides/patologia , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: It has been proposed that rebound hyperglycemia after resection of insulinoma indicates a biochemical cure. However, there is scant objective data in the literature on the rate and need for intervention in hyperglycemia in patients undergoing resection of insulinoma. The goal of our study was to evaluate the rate of postoperative hyperglycemia, any predisposing factors, and the need for intervention in a prospective cohort study of all patients undergoing routine glucose monitoring. METHODS: A retrospective analysis of 33 patients who had an insulinoma resected and who underwent routine postoperative monitoring of blood glucose (every hour for the first six hours then every four hours for the first 24 h) was performed. Hyperglycemia was defined as glucose greater than 180 mg/dL (10 mmol/l). RESULTS: Twelve patients (36%) developed hyperglycemia within 24 h (range 1-16 h). In patients with hyperglycemia, the mean maximum plasma glucose level was 221.5 mg/dL (range 97-325 mg/dL) (12.3 mmol/l), and four (33%) patients were treated with insulin. There was no significant difference in age, gender, body mass index (BMI), tumor size, biochemical profile, or surgical approach and extent of pancreatectomy between patients who developed hyperglycemia and those who did not. Pre-excision and post-excision intraoperative insulin levels were evaluated in 14 of 33 patients. The percentage decrease of the intraoperative insulin levels was not significantly different between patients who developed hyperglycemia and those who did not. All patients with postoperative hyperglycemia had normalization of their glucose levels, and none were discharged on anti-hyperglycemic agents. CONCLUSIONS: Hyperglycemia is common after insulinoma resection, and a subset of patients require transient treatment with insulin.
Assuntos
Procedimentos Cirúrgicos do Sistema Digestório/efeitos adversos , Hiperglicemia/epidemiologia , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Insulinoma/cirurgia , Neoplasias Pancreáticas/cirurgia , Adulto , Idoso , Glicemia , Feminino , Humanos , Hiperglicemia/tratamento farmacológico , Hiperglicemia/etiologia , Incidência , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/tratamento farmacológico , Complicações Pós-Operatórias/epidemiologia , Período Pós-Operatório , Estudos RetrospectivosRESUMO
Context: Patients with von Hippel-Lindau (vHL) disease caused by a missense VHL mutation have a more severe phenotype compared with other VHL mutation types. Objective: To define pancreatic neuroendocrine tumor (PNET) aggressiveness according to VHL genotype. Design: A prospective natural history study. Setting: The National Institutes of Health clinical center. Patients: Patients with vHL disease, pancreatic manifestations, and germline missense VHL gene mutations. Intervention: In-silico prediction of VHL mutation via five computational prediction models. Patients with >80% prediction for disease-causing mutations in all models [high predicted risk (HPR)] were compared with others [low predicted risk (LPR)]. Main Outcome Measure: Rates of metastases, surgical intervention, and disease progression. Results: Sixty-nine patients were included: 2 developed metastases, 12 needed surgery, and 31 had disease progression during a median follow-up of 60 months (range 13 to 84 months). Thirteen patients were excluded for low prediction reliability. In the remaining 56 patients (45 with PNETs, 11 with pancreatic cysts), the HPR group (n = 13) had a higher rate of disease progression than the LPR group (n = 43) in multivariable analysis (hazard ratio 3.6; 95% confidence interval, 1.1 to 11.9; P = 0.037). The HPR group also had a higher risk of developing metastases (P = 0.015). Among patients with codon 167 hotspot mutations (n = 26), those in the HPR group had a higher risk for disease progression (P = 0.03) than other patients. Conclusions: Computational models for predicting the impact of missense VHL gene mutations may be used as a prognostic factor in patients with PNETs in the context of vHL disease.
Assuntos
Análise Mutacional de DNA/métodos , Mutação , Neoplasias Pancreáticas/genética , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/genética , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Adulto , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Simulação por Computador , Progressão da Doença , Feminino , Hemangioblastoma/genética , Hemangioblastoma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Pâncreas/patologia , Neoplasias Pancreáticas/patologia , Feocromocitoma/genética , Feocromocitoma/patologia , Prognóstico , Estudos Prospectivos , Reprodutibilidade dos Testes , Doença de von Hippel-Lindau/patologiaRESUMO
BACKGROUND: Older patients have an increased incidence of paraesophageal hernia (PEH) and can be denied surgical assessment due to the perception of increased complications and mortality. This study examines the influence of age and comorbidities on early complications and other short-term outcomes of PEH repair. METHODS: From 2000 to 2016, data of surgically treated patients with PEH were prospectively recorded in an Institutional Review Board-approved database. Only patients whose hernia involved over 50% of the stomach were included. Patients were stratified by age (<70, 70 to 79, ≥80 years of age) and compared in univariate and multivariate analyses. RESULTS: Overall, 524 patients underwent surgical PEH repair (<70: 261 [50%]; 70 to 79: 163 [31%]; ≥80: 100 [19%]). Patients greater than or equal to 80 years of age had higher American Society of Anesthesiologists class, more comorbidities, larger hernias, and higher incidences of type IV PEH and acute presentation. Patients greater than or equal to 80 years of age had more postoperative complications, but not higher grade complications (Clavien-Dindo grade ≥IIIa). Median length of stay was 1 day longer for patients greater than or equal to 80 years of age (5 days versus 4 days for patients <70 and 70 to 79 years of age, respectively). Objective, radiologic hernia recurrence at 4.3 months postoperation was 17.3% and was not increased in the greater than or equal to 80 years of age group. After adjustment for comorbidities and other factors, age greater than or equal to 80 years was not a significant factor in predicting severe complications, readmission within 30 days, or early recurrence. CONCLUSIONS: PEH repair is safe in physiologically stable patients, irrespective of age. Incidence of complications is higher in older patients, but complication severity and mortality are similar to those of younger patients. Patients with giant PEH should be given the opportunity to review treatments options with an experienced surgeon.
Assuntos
Hérnia Hiatal/cirurgia , Herniorrafia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Hérnia Hiatal/patologia , Herniorrafia/métodos , Herniorrafia/mortalidade , Humanos , Incidência , Laparoscopia , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Fatores de RiscoRESUMO
Digital breast tomosynthesis (DBT) as a breast cancer screening modality, through generation of three dimensional images during standard mammographic compression, can reduce interference from breast tissue overlap, increasing conspicuity of invasive cancers while concomitantly reducing falsepositive results. We here conducted a systematic review on previous studies to synthesize the evidence of DBT efficacy, eventually 18 articles being included in the analysis. The most commonly emerging topics were advantages of DBT screening tool in terms of recall rates, cancer detection rates and costeffectiveness, preventing unnecessary burdens on women and the healthcare system. Further research is needed to evaluate the potential impact of DBT on longerterm outcomes, such as interval cancer rates and mortality, to better understand the broader clinical and economic implications of its adoption.
Assuntos
Neoplasias da Mama/diagnóstico , Análise Custo-Benefício/economia , Detecção Precoce de Câncer/economia , Detecção Precoce de Câncer/métodos , Mamografia/economia , Mamografia/métodos , Mama/patologia , Neoplasias da Mama/patologia , Análise Custo-Benefício/métodos , Feminino , Humanos , Imageamento Tridimensional/economia , Imageamento Tridimensional/métodosRESUMO
Congenital malformations of the inferior vena cava (IVC) are rare and underreported. They can be a risk factor for deep venous thrombosis (DVT) as a result of inadequate venous drainage of the lower extremities through collateral circulation. The significant number of cases reported in the literature highlights their importance, warranting investigating their existence in younger individuals with idiopathic DVT of the lower extremities and pelvic veins. In this systematic review, we depict the typical presentation of IVC malformations, their management, and the management of their associated DVT.