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1.
Cardiovasc Intervent Radiol ; 47(4): 494-502, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38446209

RESUMO

PURPOSE: To evaluate improvement in local vascular perfusion of the lower limbs on intravoxel incoherent motion (IVIM) imaging after endovascular therapy (EVT). MATERIALS AND METHODS: IVIM imaging was performed on 20 lower limbs of 16 patients with lower extremity arterial diseases before and after EVT. To estimate IVIM, diffusion-weighted lower-limb axial images (number of slices = 25 and slice thickness = 3.5 mm) were acquired using different b values (0, 300, and 1000 s/mm2). IVIM imaging with the simplified IVIM techniques was performed. The perfusion-related coefficient (D* [10-3 mm2/s]), perfusion fraction (f [%]), and D*f product (10-3 mm2/s %) were calculated before and 2-3 days after EVT. The ankle brachial index (ABI), mean D* (10-3 mm2/s), mean f (%), and mean D*f product (10-3 mm2/s %) before and after EVT were compared. RESULTS: Successful revascularization was achieved in all cases. After EVT, the mean ABI significantly increased from 0.59 ± 0.19 to 0.87 ± 0.15 (p < 0.001, paired t test). The mean D* (10-3 mm2/s) (22.08 ± 3.26 versus 24.87 ± 2.65, p = 0.005, paired t test), and D*f product (10-3 mm2/s%) (551.03 ± 79.02 versus 634.55 ± 76.96, p = 0.002, paired t-test) of the lower limbs significantly increased after EVT, whereas f (%) (25.00 ± 1.28 versus 25.52 ± 1.61, p = 0.261, paired t-test) did not significantly increased after EVT. CONCLUSION: D* (10-3 mm2/s) and D*f product (10-3 mm2/s %) on IVIM imaging could evaluate improvement in local vascular perfusion of the lower limbs after EVT. LEVEL OF EVIDENCE: Level 4, Case Series.


Assuntos
Imagem de Difusão por Ressonância Magnética , Procedimentos Endovasculares , Humanos , Imagem de Difusão por Ressonância Magnética/métodos , Movimento (Física) , Perfusão , Extremidade Inferior/diagnóstico por imagem
2.
Radiol Case Rep ; 19(4): 1533-1536, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38317695

RESUMO

A 43-year-old woman, with a history of uterine fibroids and multiple myomectomy, presented with acute lower abdominal pain. Computed tomography revealed multiple tumors, including a high-density mass in the left lower abdomen indicative of a parasitic leiomyoma undergoing red degeneration. This uncommon condition is due to acute occlusion, often caused by peripheral venous thrombosis at the fibroid edge. The diagnosis was corroborated by distinctive findings on magnetic resonance imaging and computed tomography. Notably, high signal intensity on T1-weighted images (T1WI) suggested methemoglobin presence due to hemorrhagic infarction, whereas low signal intensity on T2-weighted images (T2WI) indicated deoxyhemoglobin. Symptom improvement followed treatment with analgesics. This case underscores the significance of considering parasitic myomas in the differential diagnosis of intraperitoneal tumors after myomectomy and proposes that vascular torsion from mechanical stress on the mobile mesentery may contribute to red degeneration in such tumors. In this report, we detail the imaging characteristics and clinical progression of red degeneration in a parasitic leiomyoma, emphasizing the importance of this diagnosis in patients with a history of uterine surgery.

3.
Jpn J Radiol ; 2024 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-38345725

RESUMO

PURPOSE: Whole-body silicon photomultiplier positron emission tomography (WB SiPM PET) could be used to diagnose breast cancer spread before lumpectomy. We aimed to investigate the method of measuring the tumor size by WB SiPM PET as a basis for diagnosing breast cancer spread in the breast. MATERIALS AND METHODS: We retrospectively reviewed 35 breast cancer lesions in 32 patients who underwent WB SiPM PET/CT in the prone position as preoperative breast cancer examinations from September 2020 to March 2022. In all cases, a 20-mm spherical VOI was placed in the normal mammary gland to measure the mean standardised uptake value (SUVmean) and the standard deviation (SD) of 18F-fluorodeoxyglucose (FDG) uptake. We prepared four types of candidates (SUVmean + 2 SD, SUVmean + 3 SD, 1.5 SUVmean + 2 SD, 1.5 SUVmean + 3 SD) for thresholds for delineating tumor contours on PET images. On the semiautomatic viewer soft, the maximum tumor sizes were measured at each of the four thresholds and compared with the pathological tumor sizes, including the extensive intraductal component (EIC). RESULTS: The lesion detection sensitivity was 97% for WB SiPM PET. PET detected 34 lesions, excluding 4-mm ductal carcinomas in situ (DCIS). PET measurements at the '1.5 SUVmean + 2 SD' threshold demonstrated values closest to the pathological tumor sizes, including EIC. Moreover, '1.5 SUVmean + 2 SD' had the highest concordance (63%). CONCLUSIONS: The study demonstrated that among various PET thresholds, the '1.5 SUVmean + 2 SD' threshold exhibited the best performance. However, even with this threshold, the concordance rate was limited to only 63%.

4.
Int J Urol ; 31(3): 194-207, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38113344

RESUMO

This article is an English translation of the Clinical Practice Guidelines for Upper Tract Urothelial Carcinoma (2nd edition) published in June 2023. The Japanese Urological Association's (JUA) Guidelines Committee on Upper Tract Urothelial Carcinoma (UTUC) created a 2023 update guideline to support clinicians' current evidence-based management of UTUC and to incorporate its recommendations into clinical practice. The new guideline adhered as closely as possible to the Minds Manual for Guideline Development 2020 ver. 3.0. Findings related to epidemiological, pathological, diagnosis, treatment, and follow-up were reviewed. In addition, seven clinical questions (CQs) were set to determine the grade of recommendation and level of evidence. Preconceptions and biases were removed from the preparation process, the overall evidence was evaluated appropriately, and recommendations were made after fully considering the balance between benefits and harms. Although the evidence is still insufficient to be taken up as a CQ, the latest important information is described in seven columns, and clinical issues that should be resolved in the future related to the CQ are described as recommendations for tomorrow. We hope that these guidelines will help medical professionals, patients, and their families involved in the treatment of UTUC in their decision-making, and hope that a critical review of these guidelines will lead to further refinements in the next edition.


Assuntos
Carcinoma de Células de Transição , Neoplasias da Bexiga Urinária , Humanos , Carcinoma de Células de Transição/diagnóstico , Carcinoma de Células de Transição/terapia , Carcinoma de Células de Transição/patologia , Japão/epidemiologia
5.
Radiol Case Rep ; 18(12): 4231-4234, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37766837

RESUMO

A high-flow steerable microcatheter has been reported to be useful as a triaxial system. Moreover, the benefits of steerable microcatheters in acute-angle bifurcation vessel insertions and a compact coil-packing technique using intentional folding with a bendable catheter tip have been reported. However, research on the usefulness of a high-flow steerable catheter and 0.025-inch guidewire combination (steerable-wire) technique is lacking. Herein, we report a case of balloon-occluded retrograde transvenous obliteration (BRTO) via the femoral venous approach to illustrate the usefulness of the steerable-wire technique. The steerable-wire technique facilitates the selection of the wire into the target vessel. The steerable-wire can be used instead of the 0.035-inch guidewire, which is versatile as other devices can follow the steerable wire.

6.
Acta Radiol Open ; 12(5): 20584601231174611, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37163201

RESUMO

We present a case of a 35-year-old woman with breast cancer in lactation 3 months after childbirth, in which a lactation inhibitor was useful for 18F-FDG PET/CT examination. Via ultrasonography and biopsy with histopathology, we diagnosed the lesion in the upper region of the left breast as invasive ductal carcinoma. She stopped breastfeeding and was administered cabergoline to suppress lactation. Two days after the administration, 18F-FDG PET/CT revealed segmental uptake (10 cm in diameter) and no lactation-related uptakes. Dynamic MRI also revealed a segmental enhancement of the same size as 18F-FDG PET/CT. The lactation inhibitor was useful to delineate the extent of the lesion during the 18F-FDG PET/CT examination.

7.
Cureus ; 15(3): e36881, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37123667

RESUMO

CT has become a commonly used diagnostic procedure in clinical practice, particularly in emergency healthcare delivery. Accordingly, the increase in CT usage has increased the likelihood of incidental detections (ID) of renal cell carcinomas (RCCs). This article discusses key points and limitations associated with the diagnosis and characterization of T1a RCC (≤4 cm in diameter) and shows how to improvise on the differentiation of T1a RCC with unenhanced CT (UE-CT). We retrospectively reviewed UE-CT findings of cases associated with the histopathologic diagnosis of T1a RCC and examined the discrimination capacity and radiological characteristics with regard to small RCCs (SRCCs). Detection and characterization of T1a RCC based on UE-CT are not easy in many cases due to limitations in CT findings, but there are notable radiological features to facilitate detection and differentiation. The growth pattern is important for the detection of SRCCs. Internal characteristic features (average attenuation, heterogeneity) are useful for the characterization of the RCC. In addition, CT image visualization techniques may help improve the detectability of RCCs on UE-CT. Radiological features are important in detecting SRCCs and facilitating further examination. In this study, we discuss some cases of T1a RCCs and evaluate the radiological characteristics of the tumors seen on UE-CT.

8.
Radiol Case Rep ; 18(3): 1302-1305, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36684633

RESUMO

The assessment of stent lumen patency via non-contrast-enhanced 2-dimensional time-of-flight magnetic resonance angiography (2D TOF MRA) is complex due to stent-related artifacts. However, an imaging technique using the phase-contrast method, which can reduce susceptibility to artifact, is available. Herein, we report the use of 3-dimensional velocity vector image obtained via 4-dimensional flow magnetic resonance imaging (4D flow MRI) for in-stent flow visualization after stent development in the right superficial femoral artery. Hence, instead of 2D TOF MRA, 4D flow MRI using the phase-contrast method can be performed to assess stent lumen patency as it reduces stent-related artifacts.

9.
Laterality ; 27(5): 513-543, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35948519

RESUMO

The reliable preoperative estimation of brain hemispheric asymmetry may be achieved through multiple lateralization indices using functional magnetic resonance imaging. Adding to our previously developed AveLI, we devised a novel threshold-free lateralization index, HomotopicLI, which computes a basic formula, (Left - Right) / (Left + Right), using voxel values of pairs located symmetrically in relation to the midsagittal line as the terms Left and Right, and averages them within the regions-of-interest. The study aimed to evaluate HomotopicLI before clinical applications. Data were collected from 56 healthy participants who performed four language tasks. We compared seven index types, including HomotopicLI, AveLI, and BaseLI; BaseLI was calculated using the sums of voxel values as the terms. Contrary to our expectations, HomotopicLI performed similarly to AveLI but better than BaseLI in detecting right dominance. A detailed analysis of unilaterally activated voxels of the homotopic pairs revealed that unilateral activation occurred more frequently on the right than on the left when HomotopicLI indicated right dominance. The voxel values during right unilateral activation were smaller than those in the left, causing right dominances in the homotopic pairs by HomotopicLI. These unique features provide an advantage in detecting residual, compensative functions spreading weakly in the non-dominant hemisphere.


Assuntos
Mapeamento Encefálico , Lateralidade Funcional , Humanos , Lateralidade Funcional/fisiologia , Idioma , Imageamento por Ressonância Magnética/métodos
10.
Anticancer Res ; 41(10): 5179-5188, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34593470

RESUMO

BACKGROUND/AIM: 18F-fluorodeoxyglucose (FDG) uptake measurement on positron emission tomography/computed tomography (PET/CT) is difficult in renal tumors because of the nearby renal parenchyma and urinary tract, which excrete FDG. We carefully examined the maximum standardized uptake value (SUVmax) on FDG-PET/CT and investigated the relationship between major glucose transporters in the kidney and clear cell renal cell carcinoma (ccRCC) progression. PATIENTS AND METHODS: Forty-five patients with ccRCC underwent FDG-PET/CT for staging and nephrectomy. Glucose transporter mRNA expression was examined in the removed kidney. RESULTS: SUVmax was increased in high-stage and high-grade tumors. Glucose transporter 1 (GLUT1) mRNA expression was higher in tumor tissues, in contrast to other glucose transporters. SUVmax was not correlated with GLUT1 mRNA expression. Kaplan-Meier analysis showed reduced overall and recurrence-free survival in the high SUVmax group. CONCLUSION: Primary ccRCC lesions show a high SUVmax and GLUT1 mRNA over-expression. SUVmax increases with tumor upstaging and upgrading.


Assuntos
Carcinoma de Células Renais/patologia , Fluordesoxiglucose F18/metabolismo , Transportador de Glucose Tipo 1/metabolismo , Neoplasias Renais/patologia , Recidiva Local de Neoplasia/patologia , Nefrectomia/mortalidade , RNA Mensageiro/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Renais/diagnóstico por imagem , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/cirurgia , Feminino , Seguimentos , Transportador de Glucose Tipo 1/genética , Humanos , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/metabolismo , Neoplasias Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/metabolismo , Recidiva Local de Neoplasia/cirurgia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Prognóstico , RNA Mensageiro/genética , Compostos Radiofarmacêuticos/metabolismo , Estudos Retrospectivos , Taxa de Sobrevida
13.
Jpn J Clin Oncol ; 49(9): 803-811, 2019 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-31095314

RESUMO

OBJECTIVE: This multicenter, phase II clinical trial evaluated the diagnostic performance of 18F-fluciclovine, a novel amino acid for positron-emission tomography (PET), for detection of small lymph node metastases with short-axis diameters of 5-10 mm in patients with prostate cancer. METHODS: Patients with prostate cancer were eligible after screening of laboratory tests and pelvic contrast-enhanced computed tomography (CT). Pelvic region 18F-fluciclovine PET/CT was then acquired within 28 days and dissection of regional lymph nodes was performed within 60 days of pelvic contrast-enhanced CT. Diagnostic performance of 18F-fluciclovine-PET/CT was evaluated by comparison with standard histopathology of lymph nodes. RESULTS: In a total of 28 patients, 40 regional lymph nodes with short-axis diameters of 5-10 mm were eligible for efficacy evaluation; seven of these showed metastases confirmed by histopathology. The sensitivity of 18F-fluciclovine PET/CT was 57.1% (4/7). All four true positive lymph nodes detected by 18F-fluciclovine PET/CT had a metastatic lesion with a long-axis diameter of ≥7 mm and a high proportion of cancer volume (60-100%) according to pathology evaluation. The specificity, diagnostic accuracy, positive predictive value, and negative predictive value of 18F-fluciclovine PET/CT in lymph node-based analysis were 84.8% (28/33), 80.0% (32/40), 44.4% (4/9), and 90.3% (28/31), respectively. No clinically significant adverse events occurred. CONCLUSIONS: 18F-fluciclovine PET/CT detected small lymph node metastases; however it also showed positive findings in benign lymph nodes. Refinement of the image assessment criteria may improve the diagnostic performance of 18F-fluciclovine PET/CT for small lymph node metastases in patients with prostate cancer.


Assuntos
Ácidos Carboxílicos , Ciclobutanos , Metástase Linfática , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Neoplasias da Próstata/diagnóstico por imagem , Idoso , Humanos , Linfonodos/diagnóstico por imagem , Linfonodos/patologia , Masculino , Pessoa de Meia-Idade , Pelve/diagnóstico por imagem , Pelve/patologia , Neoplasias da Próstata/patologia , Sensibilidade e Especificidade
14.
Gynecol Oncol Rep ; 26: 78-81, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30386812

RESUMO

Liposarcoma of the uterine corpus is extremely rare. We performed a laparotomy on a 55-year-old woman with the complaints of abdominal distension and genital bleeding who was found to have a uterine tumor, 17 × 16 cm in diameter. The preoperative diagnosis was a lipoma or lipoleiomyoma of the uterine corpus. However, pathological examination revealed proliferation of mature adipocytes and lipoblast-like atypical cells with small, weakly pleomorphic nuclei and foamy or vacuolated cytoplasm present within a fibrous septum. Immunohistochemistry showed that the tumor cells were focally positive for mouse double minute 2 homolog (MDM2). The final pathological diagnosis was a well-differentiated liposarcoma of International Federation of Gynecology and Obstetrics (FIGO) stage IB (pT1bNxM0). On magnetic resonance imaging (MRI), T1 -weighted and fat-saturated images showed high and low intensity in the tumor, respectively, suggesting that this tumor contained a fat component. The septum inside the tumor had a contrast enhancement on T1-weighted, gadolinium-enhanced imaging. The septum was nonuniformly thickened and partially nodular. In hindsight, these findings may have suggested a well-differentiated liposarcoma in the uterine corpus rather than a lipoma or lipoleiomyoma. Clinicians should be aware of the possibility of a liposarcoma of the uterine corpus when a neoplasm contains adipose tissue and a nonuniformly thickened or partially nodular septum on MRI.

16.
Eur Radiol ; 28(3): 1009-1015, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28986624

RESUMO

OBJECTIVES: To analyse the quantitative changes of the prostate and seminal vesicles (SV) on magnetic resonance imaging (MRI) after ejaculation. METHODS: Ten healthy young males were enrolled for T2-weighted and T2 mapping MRI before and after two consecutive ejaculations. T2 values of the peripheral zone (PZ) and the central gland (CG) at the midgland of the prostate were compared before and after ejaculation, respectively. T2 values of the PZ at the apex and base were also compared before and after, respectively. Pre- and post-ejaculation SV volumes were compared. The Wilcoxon's signed rank test with Bonferroni adjustment was used for comparison. RESULTS: After ejaculation, T2 values of the PZ significantly decreased (mean, 119±20 vs. 105±21, p=0.002) while those of the CG did not significantly change at the midgland. At the apex, T2 values of the PZ also decreased significantly (mean, 114±9 vs. 94±7, p=0.002). On the other hand, T2 values of the PZ did not change at the base. SV volumes were significantly reduced after ejaculation (mean, 11.1±7.7mL vs. 7.2±6.7mL, p=0.002). CONCLUSIONS: Ejaculation decreases T2 values of the PZ at the midgland and apex, and reduces SV volumes. Abstinence periods should be considered in evaluating the prostate and SV on MRI. KEY POINTS: • T2 values decrease after ejaculation in the apical-mid peripheral zone. • Ejaculation does not affect T2 values of the central gland. • Volume of the seminal vesicles decreases after ejaculation. • An abstinence period should be considered before pelvic MRI in men.


Assuntos
Ejaculação/fisiologia , Próstata/diagnóstico por imagem , Glândulas Seminais/diagnóstico por imagem , Adulto , Voluntários Saudáveis , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Estudos Prospectivos , Próstata/anatomia & histologia , Próstata/fisiologia , Neoplasias da Próstata/diagnóstico por imagem , Neoplasias da Próstata/patologia , Glândulas Seminais/anatomia & histologia , Glândulas Seminais/fisiologia
17.
Hinyokika Kiyo ; 63(7): 267-270, 2017 Jul.
Artigo em Japonês | MEDLINE | ID: mdl-28814706

RESUMO

A 26-year-old woman presented to our hospital with right costovertebral angle (CVA) pain. Ultrasonographyand computed tomography(CT) scan indicated right hydronephrosis, and MAG3 renogram showed an obstructed pattern in the right kidney. Enhanced CT scan revealed an ureteropelvic junction obstruction (UPJO) with an aberrant vessel. To clarifythe ureteropelvic junction (UPJ) structure in detail, we utilized 3D-CT with retrograde pyelography (RP), which further revealed the true pinhole ureteral stricture of UPJ unaffected bythe aberrant vessel.


Assuntos
Obstrução Ureteral/diagnóstico por imagem , Adulto , Feminino , Humanos , Imageamento Tridimensional , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Obstrução Ureteral/cirurgia
19.
BMC Urol ; 17(1): 47, 2017 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-28645325

RESUMO

BACKGROUND: Many urologic surgeons refer to biopsy core details for decision making in cases of localized prostate cancer (PCa) to determine whether an extended resection and/or lymph node dissection should be performed. Furthermore, recent reports emphasize the predictive value of prostate-specific antigen density (PSAD) for further risk stratification, not only for low-risk PCa, but also for intermediate- and high-risk PCa. This study focused on these parameters and compared respective predictive impact on oncologic outcomes in Japanese PCa patients. METHODS: Two-hundred and fifty patients with intermediate- and high-risk PCa according to the National Comprehensive Cancer Network (NCCN) classification, that underwent robot-assisted radical prostatectomy at a single institution, and with observation periods of longer than 6 months were enrolled. None of the patients received hormonal treatments including antiandrogens, luteinizing hormone-releasing hormone analogues, or 5-alpha reductase inhibitors preoperatively. PSAD and biopsy core details, including the percentage of positive cores and the maximum percentage of cancer extent in each positive core, were analyzed in association with unfavorable pathologic results of prostatectomy specimens, and further with biochemical recurrence. The cut-off values of potential predictive factors were set through receiver-operating characteristic curve analyses. RESULTS: In the entire cohort, a higher PSAD, the percentage of positive cores, and maximum percentage of cancer extent in each positive core were independently associated with advanced tumor stage ≥ pT3 and an increased index tumor volume > 0.718 ml. NCCN classification showed an association with a tumor stage ≥ pT3 and a Gleason score ≥8, and the attribution of biochemical recurrence was also sustained. In each NCCN risk group, these preoperative factors showed various associations with unfavorable pathological results. In the intermediate-risk group, the percentage of positive cores showed an independent predictive value for biochemical recurrence. In the high-risk group, PSAD showed an independent predictive value. CONCLUSIONS: PSAD and biopsy core details have different performance characteristics for the prediction of oncologic outcomes in each NCCN risk group. Despite the need for further confirmation of the results with a larger cohort and longer observation, these factors are important as preoperative predictors in addition to the NCCN classification for a urologic surgeon to choose a surgical strategy.


Assuntos
Antígeno Prostático Específico/sangue , Prostatectomia/normas , Neoplasias da Próstata/sangue , Neoplasias da Próstata/patologia , Procedimentos Cirúrgicos Robóticos/normas , Idoso , Biópsia com Agulha de Grande Calibre/métodos , Biópsia com Agulha de Grande Calibre/normas , Estudos de Coortes , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prostatectomia/métodos , Neoplasias da Próstata/cirurgia , Estudos Retrospectivos , Fatores de Risco , Procedimentos Cirúrgicos Robóticos/métodos , Resultado do Tratamento
20.
BMC Cancer ; 16: 232, 2016 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-26983443

RESUMO

BACKGROUND: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant tumor susceptibility syndrome, and the disease-related gene has been identified as fumarate hydratase (fumarase, FH). HLRCC-associated kidney cancer is an aggressive tumor characterized by early metastasis to regional lymph nodes and distant organs. Since early diagnosis and provision of definitive therapy is thought to be the best way to reduce the tumor burden, it is widely accepted that germline testing and active surveillance for an at-risk individual from a family with HLRCC is very important. However, it still remains controversial how we should treat HLRCC-associated kidney cancer. We successfully treated the patient with locally advanced HLRCC-associated kidney cancer, who has received active surveillance because of at-risk individual, by radical nephrectomy and extended retroperitoneal lymph node dissection, and examined surgically resected samples from a molecular point of view. CASE PRESENTATION: We recommended that 13 at-risk individuals from a family with HLRCC should receive active surveillance for early detection of renal cancer. A 48-year-old woman with a left renal tumor and involvement of multiple regional lymph nodes with high accumulation of fluorine-18-deoxyglucose on positron emission tomography was treated with axitinib as a neoadjuvant therapy. Preoperative axitinib induced the shrinkage of the tumor with decreased fluorine-18-deoxyglucose accumulation. Resected samples showed two thirds tumor tissue necrosis as well as high expression of serine/threonine kinase Akt and low expression of nuclear factor E2-related factor 2 (Nrf2) which activates anti-oxidant response and protects against oxidative stress in viable cancer cells. Targeted next-generation sequencing revealed that FH mutation and loss of the second allele were completely identical between blood and tumor samples, suggesting that FH mutation plays a direct role in FH-deficient RCC. She has remained well after radical operation for over 33 months. CONCLUSIONS: FH mutation plays a role in tumorigenic feature, a metabolic shift to aerobic glycolysis, and increased an anti-oxidant response phenotype in HLRCC-associated kidney cancer.


Assuntos
Carcinoma de Células Renais/cirurgia , Leiomiomatose/cirurgia , Linfonodos/cirurgia , Recidiva Local de Neoplasia/cirurgia , Neoplasias Cutâneas/cirurgia , Neoplasias Uterinas/cirurgia , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Feminino , Fumarato Hidratase/genética , Predisposição Genética para Doença , Humanos , Leiomiomatose/genética , Leiomiomatose/patologia , Excisão de Linfonodo , Linfonodos/patologia , Metástase Linfática , Pessoa de Meia-Idade , Mutação , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/patologia , Síndromes Neoplásicas Hereditárias , Nefrectomia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia
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