RESUMEN
Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer. Herein we describe a family with two women affected by both NF1 and early-onset breast cancer. We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer. Mutation analyses identified nonsense mutations in NF1 and BRCA1 genes. Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.
RESUMEN
Although the prognosis of patients with differentiated thyroid carcinoma (DTC) is generally encouraging, a diagnostic dilemma is posed when an increasing level of serum thyroglobulin (Tg) is noted, without detection of a recurrent tumor using conventional imaging tools such as the iodine-131 whole-body scanning (the [(131)I] scan) or neck ultrasonography (US). The objective of the present study was to evaluate the diagnostic value of [(124)I]-PET/CT and [(18)F]-FDG-PET/CT in terms of accurate detection of both iodine- and non-iodine-avid recurrence, compared with that of conventional imaging such as the [(131)I] scan or neck ultrasonography (US). Between July 2009 and June 2010, we prospectively studied 19 DTC patients with elevated thyroglobulin levels but who do not show pathological lesions when conventional imaging modalities are used. All involved patients had undergone total thyroidectomy and radioiodine (RI) treatment, and who had been followed-up for a mean of 13 months (range, 6-21 months) after the last RI session. Combined [(18)F]-FDG-PET/CT and [(124)I]-PET/CT data were evaluated for detecting recurrent DTC lesions in study patients and compared with those of other radiological and/or cytological investigations. Nine of 19 patients (47.4%) showed pathological [(18)F]-FDG (5/19, 26.3%) or [(124)I]-PET (4/19, 21.1%) uptake, and were classed as true-positives. Among such patients, disease management was modified in six (66.7%) and disease was restaged in seven (77.8%). In particular, the use of the described imaging combination optimized planning of surgical resection to deal with locoregional recurrence in 21.1% (4/19) of patients, who were shown to be disease-free during follow-up after surgery. Our results indicate that combination of [(18)F]-FDG-PET/CT and [(124)I]-PET/CT affords a valuable diagnostic method that can be used to make therapeutic decisions in patients with DTC who are tumor-free on conventional imaging studies but who have high Tg levels.
Asunto(s)
Carcinoma/diagnóstico por imagen , Radiofármacos , Neoplasias de la Tiroides/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma/metabolismo , Carcinoma/cirugía , Femenino , Fluorodesoxiglucosa F18/química , Estudios de Seguimiento , Humanos , Radioisótopos de Yodo/química , Masculino , Persona de Mediana Edad , Imagen Multimodal , Cuello/diagnóstico por imagen , Tomografía de Emisión de Positrones , Estudios Prospectivos , Radiofármacos/química , Recurrencia , Tiroglobulina/sangre , Neoplasias de la Tiroides/metabolismo , Neoplasias de la Tiroides/cirugía , Tiroidectomía , Tomografía Computarizada por Rayos X , Ultrasonografía , Imagen de Cuerpo EnteroRESUMEN
PURPOSE: To use objective and subjective voice function analysis to compare outcomes in patients who had undergone conventional open thyroidectomy or robotic thyroidectomy. METHODS: The study involved 88 consecutive patients who underwent thyroid surgery between May 2009 and December 2009; 46 patients underwent a conventional open thyroidectomy, and 42 underwent a robotic thyroidectomy. Auditory perceptual evaluation was used to make subjective assessments of voice function, and videolaryngostroboscopy, acoustic voice analysis with aerodynamic study, electroglottography, and voice range profile were used to make objective assessments. Each assessment was made before surgery, and at 1 week and 3 months after surgery. RESULTS: The conventional open and robotic thyroidectomy groups were similar in terms of age, gender ratio, and disease profile. We found that 18 (20.5%) of the 88 patients showed some level of voice dysfunction at 1 week after surgery; that the dysfunction resolved by 3 months after surgery in all cases; and that it was not permanent according to postoperative videolaryngostroboscopy. The conventional open and robotic thyroidectomy groups were found to have similar levels of dysfunction at 1 week after surgery, except for jitter, which was greater in the robotic group. For both groups, any such dysfunction spontaneously resolved by 3 months after surgery, and there were no significant differences between the groups in terms of any voice function parameter. CONCLUSIONS: Voice dysfunction was present after both open and robotic thyroidectomy (without any evident laryngeal nerve injury). However, function subsequently normalized to preoperative levels at 3 months after surgery in both groups. Voice function outcomes after robotic thyroidectomy are similar to those after conventional open thyroidectomy.
Asunto(s)
Carcinoma/cirugía , Neoplasias de la Tiroides/cirugía , Tiroidectomía/efectos adversos , Tiroidectomía/métodos , Trastornos de la Voz/fisiopatología , Calidad de la Voz/fisiología , Adulto , Carcinoma/patología , Carcinoma Papilar , Distribución de Chi-Cuadrado , Femenino , Humanos , Laringoscopía , Masculino , Persona de Mediana Edad , Recuperación de la Función , Remisión Espontánea , Robótica , Acústica del Lenguaje , Estroboscopía , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides/patología , Grabación en Video , Pliegues Vocales/fisiopatología , Trastornos de la Voz/etiologíaRESUMEN
OBJECTIVES: Approximately 5% of non-medullary thyroid cancer (NMTC) diagnoses are made against a background of familial predisposition and, in such instances, the disease is termed familial non-medullary thyroid cancer (FNMTC). To date, neither genetic alterations causing FNMTC nor genes predisposing to the condition have been described. The objective of the present study was to evaluate loss of heterozygosity (LOH) at the four known susceptibility loci (fPTC/PRN, NMTC1, MNG1, and TCO1) and to compare the mutation rates of RAS/RAF genes in patients with FNMTC and sporadic NMTC. METHODS: Fourteen FNMTCs in patients from seven families were analyzed in terms of involvement of the four susceptibility loci, and 63 thyroid cancer tumors [FNMTC (29) and NMTC (34)] were evaluated for the occurrence of mutations in BRAF, and H-, N-, and K-RAS, using polymerase chain reaction, single-strand conformation polymorphism (PCR-SSCP) analysis, and direct sequencing. RESULTS: Only five (35.7%) tumors showed loss of LOH at the three susceptibility loci (NMTC1, MNG1, or TCO1). These allelic losses did not show a specific pattern. Four (13.8%) FNMTCs and one (2.9%) NMTC had H-RAS (codon 12) mutations. Further, mutation of BRAF V600E was observed in 12 (41.4%) FNMTCs and 29 (85.3%) NMTCs. CONCLUSION: Four known susceptibility loci are infrequently involved in FNMTC. Although further studies are needed, the present findings additionally suggest that somatic activation of oncogenes via BRAF and RAS mutation plays a role in FNMTC tumorigenesis.
Asunto(s)
Adenocarcinoma Folicular/genética , Adenocarcinoma Papilar/genética , Pérdida de Heterocigocidad , Mutación/genética , Proteínas Proto-Oncogénicas B-raf/genética , Neoplasias de la Tiroides/genética , Proteínas ras/genética , Adulto , ADN de Neoplasias/genética , Familia , Femenino , Estudios de Seguimiento , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , PronósticoRESUMEN
PURPOSE: A 70-gene prognostic signature has prognostic value in patients with node-negative breast cancer in Europe. This diagnostic test known as "MammaPrint™ (70-gene prognostic signature)" was recently validated and implementation was feasible. Therefore, we assessed the 70-gene prognostic signature in Korean patients with breast cancer. We compared the risk predicted by the 70-gene prognostic signature with commonly used clinicopathological guidelines among Korean patients with breast cancer. We also analyzed the 70-gene prognostic signature and clinicopathological feature of the patients in comparison with a previous validation study. METHODS: Forty-eight eligible patients with breast cancer (clinical T1-2N0M0) were selected from four hospitals in Korea. Fresh tumor samples were analyzed with a customized microarray for the 70-gene prognostic signature. Concordance between the risk predicted by the 70-gene prognostic signature and risk predicted by commonly used clinicopathological guidelines (St. Gallen guidelines, National Institutes of Health [NIH] guideline, and Adjuvant! Online) was evaluated. RESULTS: Prognosis signatures were assessed in 36 patients. No significant differences were observed in the clinicopathological features of patients compared with previous studies. The 70-gene prognosis signature identified five (13.9%) patients with a low-risk prognosis signature and 31 (86.1%) patients with a high-risk prognosis signature. Clinical risk was concordant with the prognosis signature for 29 patients (80.6%) according to the St. Gallen guidelines; 30 patients (83.4%) according to the NIH guidelines; and 23 patients (63.8%) according to the Adjuvant! Online. Our results were different from previous validation studies in Europe with about a 40% low-risk prognosis and about a 60% high-risk prognosis. The high incidence in the high-risk group was consistent with data in Japan. CONCLUSION: The results of 70-gene prognostic signature of Korean patients with breast cancer were somewhat different from those identified in Europe. This difference should be studied as whether there is a gene disparity between Asians and Europeans. Further large-scale studies with a follow-up evaluation are required to assess whether the use of the 70-gene prognostic signature can predict the prognosis of Korean patients with breast cancer.
RESUMEN
Primary aldosteronism (PA) is a frequent cause of secondary hypertension and is amenable to surgical intervention when it is caused by aldosterone-producing adenoma (APA). Many patients, however, continue to require antihypertensive medications to control their blood pressure after adrenalectomy. The aim of this study was to determine the preoperative factors that predict clinical outcomes after adrenalectomy in patients with APA. We studied 27 patients (mean age 45+/-4 yr) who had APA and underwent unilateral adrenalectomy between December 1995 and September 2008 at our institution. Clinical and biochemical data were evaluated at baseline and after a mean follow-up of 51.8+/-47.0 months (range, 6-159). At the end of the follow-up, 16 patients (59.3%) were considered to experience "complete resolution" without postoperative medications, whereas 7 patients (25.9%) "improved" with medications and 4 patients (14.8%) were "uncontrolled." Three factors (< or =2 antihypertensive medications [P=0.007], duration of hypertension <6 yr [P=0.002], and serum aldosterone <350 pg/mL [P<0.001]) were the predictive for complete resolution in univariate analysis. Multivariate regression analysis showed that serum aldosterone level (<350 pg/mL) was the single most important factor that predicted complete resolution after surgery (P<0.001). The best preoperative clinical factor that predicted resolution of postoperative hypertension after adrenalectomy is serum aldosterone level (<350 pg/mL).
Asunto(s)
Adrenalectomía , Adenoma Corticosuprarrenal , Aldosterona/sangre , Hiperaldosteronismo , Hipertensión , Adenoma Corticosuprarrenal/complicaciones , Adenoma Corticosuprarrenal/cirugía , Adulto , Femenino , Humanos , Hiperaldosteronismo/complicaciones , Hiperaldosteronismo/cirugía , Hipertensión/etiología , Hipertensión/cirugía , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: Robotic thyroidectomy using a gasless transaxillary approach, first described in 2008, has become popular. This study compared outcomes, including postoperative distress and patient satisfaction, for patients undergoing robotic thyroidectomy with those for patients treated by conventional open thyroidectomy. METHODS: Of 84 prospectively enrolled patients, 41 underwent robotic thyroidectomy (the robot group), and 43 received conventional open thyroidectomy (the open group). All the patients were followed up for at least 3 months after surgery. Videolaryngostroboscopic examinations were performed preoperatively and after 1 week and after 3 months postoperatively. Postoperative pain and discomfort were evaluated using a symptom scale. Subjective voice and swallowing changes were assessed by questionnaires; and satisfaction with cosmetic outcome was measured by verbal response at 3 months. RESULTS: The two groups were similar in age, gender, type of operation, and final pathologic diagnosis. Although the mean operating time was significantly longer with the robotic technique than with open surgery, there were no between-group differences in postoperative pain or duration of hospital stay. No patient in either group experienced any major postoperative complication. Postoperative discomfort in the neck and swallowing disturbances were significantly more frequent in the open group than in the robot group, both at 1 week and at 3 months after surgery. However, there was no significant between-group difference in subjective voice parameters. At 3 months, the mean cosmetic satisfaction score was significantly higher in the robotic than in the open group. CONCLUSION: Although postoperative pain levels and complications were comparable in the two groups, conventional open thyroidectomy requires a shorter operative time. The robotic technique, however, offers several distinct advantages including very good to excellent cosmetic results, reduced postoperative neck discomfort, and fewer adverse swallowing symptoms.