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4.
Acta Paediatr ; 113(6): 1420-1425, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38363039

RESUMO

AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.


Assuntos
Aniridia , Opacidade da Córnea , Gêmeos Monozigóticos , Síndrome WAGR , Tumor de Wilms , Humanos , Feminino , Gêmeos Monozigóticos/genética , Síndrome WAGR/genética , Aniridia/genética , Aniridia/complicações , Tumor de Wilms/genética , Tumor de Wilms/complicações , Lactente , Opacidade da Córnea/genética , Segmento Anterior do Olho/anormalidades , Segmento Anterior do Olho/diagnóstico por imagem , Anormalidades do Olho/genética , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/complicações , Doenças em Gêmeos/genética , Neoplasias Renais/genética , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/complicações
5.
Medicina (B Aires) ; 83(6): 998-1002, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-38117722

RESUMO

Clear cell renal cell carcinoma (ccRCC) is an uncommon malignant neoplasm that accounts for 3% of all malignant tumors in adults. This tumor exhibits a high tendency to develop synchronous or metachronous metastases in different anatomical sites. Although gallbladder metastasis from ccRCC is extremely rare, sporadic cases have been reported in the medical literature. We present the case of a 78-year-old woman with a history of undifferentiated nasopharyngeal carcinoma, basal cell carcinoma, and ccRCC in the right kidney. She underwent radical nephrectomy. Histopathological analysis confirmed the diagnosis of ccRCC without vascular or ureteral invasion. Two years later, during follow-up, a nodular lesion was detected in the gallbladder through computed tomography. Despite the absence of symptoms, surgical resection was decided. Laparoscopic cholecystectomy was performed without complications. Histopathological examination confirmed the presence of ccRCC metastasis in the gallbladder. The patient had a favorable outcome and is currently under follow-up without recurrence. Gallbladder metastasis from ccRCC is extremely rare, but surgeons should consider this possibility in patients with a history of ccRCC. Preoperative differential diagnosis between primary gallbladder carcinoma and ccRCC metastasis can be challenging and is often confirmed through histopathological examination. Complete surgical resection is the best treatment option to achieve disease-free survival.


El carcinoma renal de células claras (CRCC) es una neoplasia maligna poco común que representa el 3% de todos los tumores malignos en adultos. Este tumor presenta una alta tendencia a desarrollar metástasis sincrónicas o metacrónicas en diferentes sitios anatómicos. Aunque la metástasis en la vesícula biliar por CRCC es extremadamente rara, se han reportado casos esporádicos en la literatura médica. Presentamos el caso de una mujer de 78 años con antecedentes de carcinoma indiferenciado de cavum, carcinoma basocelular y CRCC en riñón derecho. Se sometió a nefrectomía radical. El análisis histopatológico confirmó el diagnóstico de CRCC sin invasión vascular ni ureteral. Dos años después, durante el seguimiento, se detectó una lesión nodular en la vesícula biliar mediante tomografía computarizada. A pesar de la ausencia de síntomas, se decidió la resección quirúrgica. Se realizó colecistectomía laparoscópica sin complicaciones. El examen histopatológico confirmó la presencia de metástasis de CRCC en la vesícula biliar. La paciente evolucionó favorablemente encontrándose en seguimiento sin recurrencia. La metástasis vesicular por CRCC es extremadamente rara, pero los cirujanos deben considerarla en pacientes con antecedentes de CRCC. El diagnóstico diferencial prequirúrgico entre el carcinoma primario de vesícula biliar y la metástasis de CRCC puede ser desafiante y, a menudo, se confirma mediante el examen histopatológico. La resección quirúrgica completa parece ser la mejor opción de tratamiento para lograr una supervivencia libre de enfermedad.


Assuntos
Carcinoma de Células Renais , Neoplasias da Vesícula Biliar , Neoplasias Renais , Adulto , Feminino , Humanos , Idoso , Carcinoma de Células Renais/diagnóstico por imagem , Carcinoma de Células Renais/cirurgia , Carcinoma de Células Renais/patologia , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/cirurgia , Neoplasias Renais/patologia , Neoplasias da Vesícula Biliar/diagnóstico por imagem , Neoplasias da Vesícula Biliar/cirurgia , Neoplasias da Vesícula Biliar/patologia , Rim/patologia
6.
Can J Urol ; 30(4): 11629-11632, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37633292

RESUMO

Calyceal diverticulum (CD) is a rare anatomic anomaly with an incidence of 0.2% to 0.6% in the patients undergoing renal imaging. They are considered benign lesions and malignancy is exceedingly rare. For diagnosis it is suggested to perform a multiphasic contrast-enhanced computed tomography (CT) evidencing a diverticulum of the pelvicalyceal system with thin-walled cavities communicating with the central collecting system. However, they can be usually mistaken as kidney cancers leading to unjustified nephrectomy. Here, we present a case of a 34-year-old patient who underwent surgery in 2022 due to suspected kidney cancer and histopathological analysis surprisingly reported a CD.


Assuntos
Divertículo , Neoplasias Renais , Humanos , Adulto , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/cirurgia , Rim , Divertículo/diagnóstico por imagem , Divertículo/cirurgia , Nefrectomia , Tomografia Computadorizada por Raios X
7.
Int Braz J Urol ; 49(6): 716-731, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37624658

RESUMO

OBJECTIVES: Accurate preoperative prediction of adverse pathology is crucial for treatment planning of renal cell carcinoma (RCC). Previous studies have emphasized the potential of prostate-specific membrane antigen positron emission tomography / computed tomography (PSMA PET/CT) in differentiating between benign and malignant localized renal tumors. However, there is a scarcity of case reports elucidating the identification of aggressive pathological features using PET/CT. Our study was designed to prospectively compare the diagnostic value of enhanced CT, 68Ga-PSMA-11 and 18F-fluorodeoxyglucose (18F-FDG) PET/CT in clear-cell renal cell carcinoma (ccRCC) with necrosis or sarcomatoid or rhabdoid differentiation. MATERIALS AND METHODS: A prospective case series of patients with a newly diagnosed renal mass who underwent enhanced CT, 68Ga-PSMA-11 and 18F-FDG PET/CT within 30 days prior to nephrectomy was included. Complete preoperative and postoperative clinicopathological data were recorded. Patients who received neoadjuvant targeted therapy, declined enhanced CT or PET/CT scanning, refused surgical treatment or had non-ccRCC pathological indications were excluded. Radiological parameters were compared within subgroups of pathological characteristics. Bonferroni corrections were used to adjust for multiple testing and statistical significance was set at a p-value less than 0.017. RESULTS: Seventy-two patients were available for the final analysis. Enhanced CT demonstrated poor performance in identifying necrosis, sarcomatoid or rhabdoid differentiation and adverse pathology (all P > 0.05). The maximum standardized uptake value (SUVmax) of 68Ga-PSMA-11 PET/CT was more effective than 18F-FDG PET/CT in identifying tumor necrosis and adverse pathology, with an area under the curve (AUC) of 0.85 (cutoff value=25.26, p<0.001; Delong test z=2.709, p=0.007) for tumor necrosis and AUC of 0.90 (cutoff value=25.26, p<0.001; Delong test z=3.433, p<0.001) for adverse pathology. However, no significant statistical difference was found between 68Ga-PSMA-11 and 18F-FDG PET/CT in predicting sarcomatoid or rhabdoid feature (AUC of 0.91 vs.0.75, Delong test z=1.998, p=0.046). Subgroup analyses based on age, sex, tumor location, maximal diameter, stage and WHO/ISUP grade demonstrated that 68Ga-PSMA-11 PET/CT SUVmax had a significant predictive value for adverse pathology. Enhanced CT value and SUVmax demonstrated strong reliability [intraclass correlation coefficient (ICC) > 0.80], indicating a robust correlation. CONCLUSIONS: 68Ga-PSMA-11 PET/CT demonstrates distinct advantages in identifying aggressive pathological features of primary ccRCC when compared to enhanced CT and 18F-FDG PET/CT. Further research and assessment are warranted to fully establish the clinical utility of 68Ga-PSMA-11 PET/CT in ccRCC.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Masculino , Humanos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Fluordesoxiglucose F18 , Carcinoma de Células Renais/diagnóstico por imagem , Carcinoma de Células Renais/patologia , Estudos Prospectivos , Reprodutibilidade dos Testes , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Tomografia Computadorizada por Raios X , Necrose
8.
Int Braz J Urol ; 49(3): 372-382, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37115181

RESUMO

OBJECTIVES: To evaluate the role of three-dimensional (3D) reconstruction in preoperative planning for complex renal tumors. MATERIALS AND METHODS: A well-planned questionnaire was distributed among the attending urologists at an international meeting. The questionnaire inquired about demographic data, surgical experience, partial nephrectomy (PN) versus radical nephrectomy (RN), surgical approach, time of ischemia, probability of postoperative urine leakage and positive surgical margins after viewing computed tomography (CT) scans and their respective 3D models of six complex renal tumors. Following the CT scans, attendees were asked to view randomly selected reconstructions of the cases. RESULTS: One hundred expert urologists participated in the study; 61% were aged between 40 and 60 years. Most of them (74%) were consultants. The overall likelihood of PN after viewing the 3D reconstructions significantly increased (7.1±2.7 vs. 8.0±2.2, p<0.001), the probability of conversion to RN significantly decreased (4.3±2.8 vs. 3.2±2.5, p<0.001), and the likelihood of urine leakage and positive surgical margins significantly decreased (p<0.001). Preference for the open approach significantly decreased (21.2% vs. 12.1%, p<0.001), while selective clamping techniques significantly increased (p<0.001). After viewing the 3D models, low expected warm ischemia time and estimated blood loss were significantly preferred by the respondents (p<0.001). Surgical decision change was significantly associated with performance or participation in more than 20 PNs or RNs annually [3.25 (1.98-5.22) and 2.87 (1.43-3.87), respectively]. CONCLUSIONS: 3D reconstruction models play a significant role in modifying surgeons' strategy and surgical planning for patients with renal tumors, especially for patients with stronger indications for a minimally invasive and/or nephron-sparing approach.


Assuntos
Neoplasias Renais , Margens de Excisão , Humanos , Adulto , Pessoa de Meia-Idade , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/cirurgia , Neoplasias Renais/patologia , Rim/diagnóstico por imagem , Rim/cirurgia , Rim/patologia , Nefrectomia/métodos , Tomografia Computadorizada por Raios X/métodos
10.
Acta Cir Bras ; 37(6): e370607, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36134853

RESUMO

PURPOSE: To describe the use of endocavitary ultrasound probe as an auxiliary tool when performing partial nephrectomy in cases of endophytic renal tumors, to standardize the method, and to report the preliminary results achieved with this technique. METHODS: Fifteen patients diagnosed with completely endophytic underwent partial nephrectomy with the use of an endocavitary ultrasound probe. This article describes the technique involved in partial nephrectomy and details the preparation of the endocavitary ultrasound probe to ensure its safe use. RESULTS: All the patients had a RENAL score between 8 and 11. The median time of warm ischemia was 26 and 18 minutes for laparoscopic or robot-assisted surgery, respectively. The median duration of surgery was 150 minutes, and the median console time was 145 minutes for the laparoscopic and robot-assisted surgery groups, respectively. The median estimate of blood loss was 200 mL. Only three patients in the laparoscopic group had focal positive surgical margins. There were no cases of infection at the site of probe entry. CONCLUSIONS: Intraoperative use of an endocavitary ultrasound probe for partial nephrectomy is possible and a safe alternative to the excision of endophytic tumors when neither robotic probes nor laparoscopic probes are available.


Assuntos
Neoplasias Renais , Laparoscopia , Procedimentos Cirúrgicos Robóticos , Humanos , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Laparoscopia/métodos , Nefrectomia/métodos , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/métodos , Resultado do Tratamento
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