ABSTRACT
TFEB-amplified renal cell carcinoma (RCC), which belongs to the MITF family of RCC, is characterized by genomic amplification at the 6p21.1 locus where the TFEB gene is located. The vascular endothelial growth factor A and cyclin D3 genes are also located at this same locus. When tumors lack classic morphologic features, they may be classified as "RCC not otherwise specified (NOS)." However, it is increasingly important to accurately diagnose the RCC subtype to define the patient's individual prognosis and select the subsequent therapeutic modalities, which now include targeted agents. Therefore, knowledge of the diagnostic features of TFEB-altered RCCs, such as t(6;11) RCCs and TFEB-amplified RCCs, is critical for identifying these tumors. Herein, we present an interesting case of TFEB-amplified RCC that was initially diagnosed as RCC NOS on biopsy of a renal tumor in a community practice setting with available molecular findings demonstrating CCND3 amplification. The genetic abnormality was "accidentally" detected due to the amplification of the colocated CCND3 gene at the 6p21 locus of the TFEB gene on a limited genetic sequencing panel. This case highlights the importance of molecular tests in accurately diagnosing RCC and carefully interpreting molecular findings in the context of histomorphologic features.
Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Humans , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/genetics , Vascular Endothelial Growth Factor A/genetics , Vascular Endothelial Growth Factor A/metabolism , Gene Amplification , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/metabolism , Kidney Neoplasms/diagnosis , Kidney Neoplasms/genetics , Translocation, Genetic , Biomarkers, Tumor/genetics , Cyclin D3/genetics , Cyclin D3/metabolismABSTRACT
Oral cavity metastatic tumors derived from primary tumors from other corporal regions are rare, representing barely 1 % of all malignant tumors. Differential diagnosis of these lesions is challenging due to the wide spectrum of lesions with similar clinical presentation and especially when the presence of a primary tumor goes undetected. We present the case of a 55-year-old male with a painless tumor in the anterior maxillary region, vestibular gingiva and palate, with a 2-month evolution. Anatomopathological diagnosis was malignant clear cell tumor, highly suggestive of clear cell renal carcinoma metastasis, and the oral lesion constituted the first sign of illness.
Los tumores metastásicos de cavidad oral derivados de tumores primarios de otras regiones corporales son raros, representando apenas el 1 % de todos los tumores malignos. El diagnóstico diferencial de estas lesiones es desafiante debido al amplio espectro de lesiones con presentación clínica similar y especialmente cuando la presencia de un tumor primario pasa desapercibida. Presentamos el caso de un varón de 55 años con una tumoración indolora en región maxilar anterior, encía vestibular y paladar, de 2 meses de evolución. El diagnóstico anatomopatológico fue de tumor maligno de células claras, altamente sugestivo de metástasis de carcinoma renal de células claras, y la lesión bucal constituyó el primer signo de enfermedad.
Subject(s)
Humans , Male , Middle Aged , Mouth Neoplasms/secondary , Carcinoma, Renal Cell/diagnosis , Kidney Neoplasms/diagnosisABSTRACT
Ocular metastases from systemic tumors are uncommon. The choroid is the most frequent target, with a preference for elderly individuals. Lung cancer is the predominant primary tumor that metastasizes to the eyes in males, although other ocular conditions such as uveitis and retinal lesions can mimic secondary tumor implants in ocular tissues. On fundoscopy, choroidal metastasis resembles other infectious processes, especially choroidal tuberculoma. Therefore, patients presenting with choroidal masses should undergo detailed clinical examinations, especially if the mass is the first manifestation of a systemic and severe disease. In this report, we describe a young man with a metastatic choroidal tumor secondary to papillary renal cell carcinoma mimicking a unilateral choroidal tuberculoma.
Subject(s)
Carcinoma, Renal Cell , Choroid Neoplasms , Kidney Neoplasms , Tuberculoma , Male , Humans , Aged , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/pathology , Choroid/pathology , Choroid Neoplasms/diagnosis , Choroid Neoplasms/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/pathology , Tuberculoma/diagnosis , Tuberculoma/pathologyABSTRACT
Clear cell papillary renal cell tumor is a common and sometimes underdiagnosed renal cell neoplasm. Its proper recognition is important because its diagnosis implies a remarkably high probability of indolent behavior. This study aimed to evaluate the frequency of a fibrous capsule, a cystic component, and a GATA3 expression in clear cell papillary renal cell tumors. We assessed 419 renal cell neoplasms from three institutions located in northeastern Brazil and identified 42 clear cell papillary renal cell tumors (from 39 patients), which were the fourth most common renal cell neoplasm. These tumors commonly exhibited fibrous capsules (all showed complete or partial capsules) and cystic component (93%). Eighteen out of 42 tumors (43%) showed some expression of GATA3, and weak and focal staining was common among the positive tumors. Clear cell papillary renal cell tumor must always be included in the differential diagnosis of predominantly cystic renal cell neoplasms. As GATA3 is inconsistently expressed in clear cell papillary renal cell tumors, it is not useful in this diagnosis.
Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Humans , Immunohistochemistry , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/pathology , Diagnosis, Differential , Biopsy , Biomarkers, Tumor/analysis , GATA3 Transcription FactorABSTRACT
Los tumores metastaÌsicos en cavidad oral son pocos frecuentes, representan el 1% de las neoplasias malignas orales, son relativamente maÌs frecuentes en los maxilares, respecto a aquellos localizados en los tejidos blandos orales. Se describe el caso de una paciente de 75 anÌos de edad, con antecedentes de carcinoma renal de ceÌlulas claras, que consulta por la aparicioÌn repentina de una lesioÌn tumoral en reborde alveolar superior izquierdo. Se realizoÌ la biopsia exeÌresis con diagnoÌstico presuntivo de tumor metastaÌsico o posible lesioÌn reactiva. El informe anátomo - patoloÌgico confirma el diagnoÌstico de metaÌstasis de un carcinoma renal. Las metaÌstasis orales tienen un pronoÌstico generalmente malo, compromete la sobrevida, por lo que es importante realizar un exhaustivo estudio del paciente y considerar sus antecedentes, ya que en ocasiones son diagnosticadas tardiÌamentete.
Metastatic tumors to the oral cavity are rare, representing only 1% of malignant oral neoplasms. These metastatic tumors occur more frequently in the jaws than in soft oral tissues. This article describes the case of a 75-year-old patient with a history of clear cell renal carcinoma who seeks care because of the sudden appearance of a tumor lesion in the upper left alveolar ridge. An excision biopsy was performed with a presumptive diagnosis of a metastatic tumor or potential reactive lesion. The pathology report confirmed the diagnosis of renal cell carcinoma metastasis. Oral metastatic tumors usually present a bad prognosis with a low survival rate. It is important to examine patients thoroughly and consider their medical records, as they are sometimes diagnosed late.
Os tumores metastásicos na cavidade oral são raros, representam 1% das neoplasias malignas orais, sendo relativamente mais frequentes nos ossos maxilares enquanto aos localizados nos tecidos moles orais. Descreve-se o caso de uma mulher de 75 anos com história de carcinoma renal de células claras, que consultou com queixa de lesão tumoral localizada na crista alveolar superior esquerda. Uma biópsia foi feita com diagnóstico clínico presuntivo de tumor metastático ou possível lesão reativa. O laudo anátomopatológico confirmou o diagnóstico de metástase de carcinoma renal. As metástases orais geralmente têm um prognóstico ruim, com baixa sobrevivência, portanto é importante fazer um estudo exaustivo do paciente e tomar em conta sua história, já que às vezes o diagnóstico é tardio.
Subject(s)
Humans , Female , Aged , Mouth Neoplasms/secondary , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/pathology , Mouth Neoplasms/surgery , Mouth Neoplasms/diagnosis , Carcinoma, Renal Cell/surgery , Carcinoma, Renal Cell/diagnosisABSTRACT
Clear cell renal cell carcinoma (ccRCC) has been considered a metabolic disease, with loss of von Hippel-Lindau (VHL) gene and consequent overexpression of hypoxia-inducible factor 1 alpha (HIF-1α), which is central for tumor development and progression. Among other effects, HIF-1α is involved in the metabolic reprogramming of cancer cells towards the Warburg effect involved in tumor cell proliferation, migration and survival. In this context, several proteins are expressed by cancer cells, including glucose and lactate transporters as well as different pH regulators. Among them, monocarboxylate transporters (MCTs) can be highlighted. Our aim is to comprehensively analyze the immunoexpression of MCT1, MCT2, MCT4, CD147, CD44, HIF-1α, GLUT1 and CAIX in ccRCC surgical specimens correlating with classical prognostic factors and survival of patients with long follow-up. Surgical specimens from 207 patients with ccRCC who underwent radical or partial nephrectomy were used to build a tissue microarray. Immunostaining was categorized into absent/weak or moderate/strong and related to all classic ccRCC prognostic parameters. Kaplan-Meier curves were generated to assess overall and cancer-specific survival, and multivariate analysis was performed to identify independent prognostic factors of survival. Multivariate analysis showed that MCT1 together with tumor size and TNM staging, were independently related to cancer-specific survival. MCT1, CD147, CD44 and GLUT1 expression were significantly associated with poor prognostic factors. We show that MCT1 is an independent prognostic factor for cancer-specific survival in ccRCC justifying the use of new target therapies already being tested in clinical trials.
Subject(s)
Biomarkers, Tumor , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/mortality , Cell Cycle Proteins/genetics , Gene Expression Regulation, Neoplastic , Kidney Neoplasms/genetics , Kidney Neoplasms/mortality , Oncogene Proteins/genetics , Aged , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/therapy , Disease Management , Disease Susceptibility , Female , Humans , Hyaluronan Receptors/metabolism , Immunohistochemistry , Kidney Neoplasms/diagnosis , Kidney Neoplasms/therapy , Male , Middle Aged , Neoplasm Staging , PrognosisABSTRACT
Orbit and sinonasal metastases are rare. Renal cell carcinoma (RCC) can metastasise to this region. We present the case of a 49-year-old woman with weight loss, diplopia and a rapidly growing facial mass. The initial diagnosis was a primary tumour and patient underwent excisional biopsy, which showed findings consistent with a diagnosis of RCC. On a subsequent focused review of system, the patient reported having intermittent haematuria. Imaging studies revealed a complex right renal mass as the primary tumour. Metastatic RCC should be in the differential diagnosis of patients with facial masses, especially if associated with symptoms suggestive of a systemic involvement such as haematuria. Despite treatment, patients with metastatic RCC tend to have a dismal prognosis. However, early stage diagnosis of metastatic disease can considerably limit surgical complications and improve survival rate in these patients.
Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Biopsy , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/surgery , Diagnosis, Differential , Female , Humans , Kidney Neoplasms/diagnosis , Middle Aged , OrbitABSTRACT
Intravascular large B-cell lymphoma (IVLBCL) is a rare type of extranodal large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of vessels. The patient usually presents with nonspecific symptoms and a remarkable deterioration in performance status. The occurrence of synchronous IVLBCL and renal cell carcinoma (RCC) is extremely rare. A right kidney tumor was found in a 72-year-old man with a history of low back pain. The kidney was enlarged, with a tumor mass measuring 4.5 × 4 × 4 cm. Sections exhibited a RCC (clear cell type, nuclear grade I). Also an extensive tumor affecting capillaries and small veins was present, positive for CD45, CD20, BCL-2, and MUM1/IRF-4, consistent with IVLBCL. The lymphoma was circumscribed to the RCC. The final diagnosis was IVLBCL with a RCC as collision tumor. After that, with neurological findings, central nervous system compromise by lymphoma was made. The patient started a first cycle of chemotherapy, progressive deterioration of the sensorium, and positive blood cultures for Klebsiella pneumoniae and Escherichia coli. The patient died 8 days later of acute respiratory failure. No autopsy was done. IVLBCL is an aggressive and systemic disease characterized by massive proliferation of tumor cells without a known primary site. Clinical identification and histopathologic diagnosis are relevant issues in the therapeutic management of these lymphomas. Until now, only one case of IVLBCL coexisting with RCC has been reported. In this article, we report a second case of IVLBCL with RCC simultaneous, as an unusual collision tumor.
Subject(s)
Carcinoma, Renal Cell/diagnosis , Kidney Neoplasms/diagnosis , Lymphoma, Large B-Cell, Diffuse/diagnosis , Neoplasms, Multiple Primary/diagnosis , Aged , Carcinoma, Renal Cell/pathology , Fatal Outcome , Humans , Kidney/blood supply , Kidney/pathology , Kidney Neoplasms/pathology , Lymphoma, Large B-Cell, Diffuse/pathology , Male , Neoplasms, Multiple Primary/pathologyABSTRACT
A discovery-based lipid profiling study of serum samples from a cohort that included patients with clear cell renal cell carcinoma (ccRCC) stages I, II, III, and IV (n = 112) and controls (n = 52) was performed using ultraperformance liquid chromatography coupled to quadrupole-time-of-flight mass spectrometry and machine learning techniques. Multivariate models based on support vector machines and the LASSO variable selection method yielded two discriminant lipid panels for ccRCC detection and early diagnosis. A 16-lipid panel allowed discriminating ccRCC patients from controls with 95.7% accuracy in a training set under cross-validation and 77.1% accuracy in an independent test set. A second model trained to discriminate early (I and II) from late (III and IV) stage ccRCC yielded a panel of 26 compounds that classified stage I patients from an independent test set with 82.1% accuracy. Thirteen species, including cholic acid, undecylenic acid, lauric acid, LPC(16:0/0:0), and PC(18:2/18:2), identified with level 1 exhibited significantly lower levels in samples from ccRCC patients compared to controls. Moreover, 3α-hydroxy-5α-androstan-17-one 3-sulfate, cis-5-dodecenoic acid, arachidonic acid, cis-13-docosenoic acid, PI(16:0/18:1), PC(16:0/18:2), and PC(O-16:0/20:4) contributed to discriminate early from late ccRCC stage patients. The results are auspicious for early ccRCC diagnosis after validation of the panels in larger and different cohorts.
Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Biomarkers, Tumor , Carcinoma, Renal Cell/diagnosis , Early Diagnosis , Humans , Kidney Neoplasms/diagnosis , Lipidomics , Machine Learning , Mass SpectrometryABSTRACT
La manifestación paraneoplásica conocida como síndrome de Stauffer tiene una presentación atípica, caracterizada por ictericia y colestasis intrahepática. Presentamos el caso de un paciente de 53 años de edad, con antecedente de una masa renal derecha en plan de resección quirúrgica programada, con cuadro de evolución de dolor abdominal en hipocondrio derecho e ictericia. A su ingreso se documentó hepatoesplenomegalia, elevación de bilirrubinas a expensas de la directa, y de fosfatasa alcalina junto con elevación de transaminasas. Se descartaron causas obstructivas a nivel de vía biliar intra y extrahepática. No se documentaron metástasis o lesiones focales a nivel de parénquima, ni lesiones de etiología vascular que explicaran el cuadro. También se descartó hepatitis B, C e infección por VIH, por lo cual se consideró un probable síndrome de Stauffer. Fue llevado a nefrectomía intrahospitalaria, con posterior diagnóstico patológico compatible con carcinoma de células claras. Luego del procedimiento se normalizó la bioquímica hepática y se corrigió la ictericia. Es importante reconocer que la afectación hepática en el contexto de neoplasias, no es solo atribuida a metástasis a distancia, sino también a la existencia de síndromes paraneoplásicos como condicionantes.
The paraneoplastic manifestation known as Stauffer syndrome has an atypical presentation, characterized by jaundice and intrahepatic cholestasis. We present the case of a 53-year-old patient, with a history of a right renal mass with a planned surgical resection, who developed abdominal pain in the right upper quadrant and jaundice. Upon admission, hepatosplenomegaly, elevated bilirubin, at the expense of direct bilirubin, alkaline phosphatase and elevated transaminases were documented. Intra- and extrahepatic bile ducts obstruction were ruled out. There were no documented metastases or focal lesions at the level of the parenchyma, or lesions of vascular etiology that could explain the condition. Hepatitis B, C and HIV infection were also ruled out, and a probable Stauffer syndrome was considered. In-hospital nephrectomy was performed, with subsequent pathology compatible with clear cell carcinoma. After the procedure, liver biochemistry was normalized and jaundice was corrected. It is important to recognize that liver involvement in the context of neoplasms is not only attributed to distant metastases but to the existence of paraneoplastic syndromes as determining factors.
Subject(s)
Humans , Male , Middle Aged , Paraneoplastic Syndromes/etiology , Carcinoma, Renal Cell/complications , Paraneoplastic Syndromes/diagnosis , Carcinoma, Renal Cell/diagnosis , Cholestasis, Intrahepatic/diagnosis , Alkaline Phosphatase/analysis , Transaminases/analysis , Jaundice/diagnosisABSTRACT
Angiomyolipoma with epithelial cysts (AMLEC) is a recently described entity and is an uncommon subtype of kidney angiomyolipomas. AMLEC is a benign entity but usually masquerades a renal cell carcinoma on imaging examination. AMLEC has a distinct histological and immunohistochemical staining pattern, which helps in the pathological diagnosis. We present a rare case of AMLEC in a 26-year-old female, which was provisionally diagnosed as renal cell carcinoma on radiology. We also summarize the differential diagnosis of this rare variant, its characteristic features, and a review of the literature.
Subject(s)
Humans , Female , Adult , Carcinoma, Renal Cell/diagnosis , Angiomyolipoma/pathology , Kidney Neoplasms/diagnosis , Diagnosis, Differential , NephrectomyABSTRACT
BACKGROUND: To evaluate demographic, clinical and pathological characteristics of small renal masses (SRM) (≤ 4 cm) in a Latin-American population provided by LARCG (Latin-American Renal Cancer Group) and analyze predictors of survival, recurrence and metastasis. METHODS: A multi-institutional retrospective cohort study of 1523 patients submitted to surgical treatment for non-metastatic SRM from 1979 to 2016. Comparisons between radical (RN) or partial nephrectomy (PN) and young or elderly patients were performed. Kaplan-Meier curves and log-rank tests estimated 10-year overall survival. Predictors of local recurrence or metastasis were analyzed by a multivariable logistic regression model. RESULTS: PN and RN were performed in 897 (66%) and 461 (34%) patients. A proportional increase of PN cases from 48.5% (1979-2009) to 75% (after 2009) was evidenced. Stratifying by age, elderly patients (≥ 65 years) had better 10-year OS rates when submitted to PN (83.5%), than RN (54.5%), p = 0.044. This disparity was not evidenced in younger patients. On multivariable model, bilaterality, extracapsular extension and ASA (American Society of Anesthesiologists) classification ≥3 were predictors of local recurrence. We did not identify significant predictors for distant metastasis in our series. CONCLUSIONS: PN is performed in Latin-America in a similar proportion to developed areas and it has been increasing in the last years. Even in elderly individuals, if good functional status, sufficiently fit to surgery, and favorable tumor characteristics, they should be encouraged to perform PN. Intending to an earlier diagnosis of recurrence or distant metastasis, SRM cases with unfavorable characteristics should have a more rigorous follow-up routine.
Subject(s)
Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/mortality , Kidney Neoplasms/diagnosis , Kidney Neoplasms/mortality , Neoplasm Recurrence, Local/mortality , Aged , Carcinoma, Renal Cell/secondary , Carcinoma, Renal Cell/surgery , Cohort Studies , Databases, Factual , Female , Humans , Kidney Neoplasms/pathology , Kidney Neoplasms/surgery , Latin America , Male , Middle Aged , Nephrectomy/methods , Prognosis , Retrospective Studies , Survival RateABSTRACT
PURPOSE: The outcome of RCC has improved considerably in the last few years, and the treatment options have increased. LACOG-GU and LARCG held a consensus meeting to develop guidelines to support the clinical decisions of physicians and other health professionals involved in the care of RCC patients. METHODS: Eighty questions addressing relevant advanced RCC treatments were previously formulated by a panel of experts. The voting panel comprised 26 specialists from the LACOG-GU/LARCG. Consensus was determined as 75% agreement. For questions with less than 75% agreement, a new discussion was held, and consensus was determined by the majority of votes after the second voting session. RESULTS: The recommendations were based on the highest level of scientific evidence or by the opinion of the RCC experts when no relevant research data were available. CONCLUSION: This manuscript provides guidance for advanced RCC treatment according to the LACOG-GU/LARCG expert recommendations.
Subject(s)
Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/therapy , Kidney Neoplasms/diagnosis , Kidney Neoplasms/therapy , Clinical Decision-Making , Combined Modality Therapy , Cytoreduction Surgical Procedures/methods , Disease Management , Expert Testimony , Humans , Latin America , Metastasectomy/methods , Nephrectomy/methods , Practice Guidelines as Topic , Standard of CareSubject(s)
Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/therapy , Kidney Neoplasms/diagnosis , Kidney Neoplasms/therapy , Medical Oncology/history , Pediatrics/history , Child , Clinical Trials as Topic , History, 20th Century , Humans , Immunotherapy , Incidence , Neoplasm Metastasis , Prognosis , RegistriesABSTRACT
ABSTRACT The very rare thyroid-like carcinoma of the kidney (TLCK) is microscopically similar to thyroid follicular cell carcinoma (TFCC). Differential diagnosis with secondary thyroid tumors depends on non-reactivity to immunohistochemical (IHC) markers for TFCC (thyroglobulin - TG and TTF1). We herein describe the fourth Pediatric case in literature and extensively review the subject. Only 29 cases were published to the moment. Most cases were asymptomatic and incidentally detected. Most tumors are hyperechoic and hyperdense with low grade heterogenous enhancement on CT and MRI. Most patients were treated with radical nephrectomy, but partial nephrectomy was used in some cases, apparently with the same results. Metastases are uncommon and apparently do not change prognosis, but follow-ups are limited. Up to the moment, TLCK presents as a low grade malignancy that may be treated exclusively with surgery and frequently with partial kidney renal preservation. A preoperative percutaneous biopsy is a common procedure to investigate atypical tumors in childhood and adult tumors. To recognize the possibility of TLCK is fundamental to avoid unnecessary thyroidectomies in those patients, supposing a primary thyroid tumor.
Subject(s)
Humans , Female , Child , Thyroid Neoplasms/pathology , Adenocarcinoma, Follicular/pathology , Kidney Neoplasms/surgery , Thyroid Neoplasms/diagnosis , Magnetic Resonance Imaging , Carcinoma, Renal Cell/surgery , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/pathology , Adenocarcinoma, Follicular/surgery , Adenocarcinoma, Follicular/diagnosis , Diagnosis, Differential , Kidney Neoplasms/diagnosis , Kidney Neoplasms/pathology , Lymph Node Excision/methods , Nephrectomy/methodsABSTRACT
The very rare thyroid-like carcinoma of the kidney (TLCK) is microscopically similar to thyroid follicular cell carcinoma (TFCC). Differential diagnosis with secondary thyroid tumors depends on non-reactivity to immunohistochemical (IHC) markers for TFCC (thyroglobulin - TG and TTF1). We herein describe the fourth Pediatric case in literature and extensively review the subject. Only 29 cases were published to the moment. Most cases were asymptomatic and incidentally detected. Most tumors are hyperechoic and hyperdense with low grade heterogenous enhancement on CT and MRI. Most patients were treated with radical nephrectomy, but partial nephrectomy was used in some cases, apparently with the same results. Metastases are uncommon and apparently do not change prognosis, but follow-ups are limited. Up to the moment, TLCK presents as a low grade malignancy that may be treated exclusively with surgery and frequently with partial kidney renal preservation. A preoperative percutaneous biopsy is a common procedure to investigate atypical tumors in childhood and adult tumors. To recognize the possibility of TLCK is fundamental to avoid unnecessary thyroidectomies in those patients, supposing a primary thyroid tumor.
Subject(s)
Adenocarcinoma, Follicular/pathology , Kidney Neoplasms/pathology , Thyroid Neoplasms/pathology , Adenocarcinoma, Follicular/diagnosis , Adenocarcinoma, Follicular/surgery , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/pathology , Carcinoma, Renal Cell/surgery , Child , Diagnosis, Differential , Female , Humans , Kidney Neoplasms/diagnosis , Kidney Neoplasms/surgery , Lymph Node Excision/methods , Magnetic Resonance Imaging , Nephrectomy/methods , Thyroid Neoplasms/diagnosisABSTRACT
A protocol for harvesting and extracting extracellular metabolites from an in vitro model of human renal cell lines was developed to profile the exometabolome by means of a discovery-based metabolomics approach using ultraperformance liquid chromatography coupled to quadrupole-time-of-flight mass spectrometry. Metabolic footprints provided by conditioned media (CM) samples ( n = 66) of two clear cell Renal Cell Carcinoma (ccRCC) cell lines with different genetic backgrounds and a nontumor renal cell line, were compared with the human serum metabolic profile of a pilot cohort ( n = 10) comprised of stage IV ccRCC patients and healthy individuals. Using a cross-validated orthogonal projection to latent structures-discriminant analysis model, a panel of 21 discriminant features selected by iterative multivariate classification, allowed differentiating control from tumor cell lines with 100% specificity, sensitivity, and accuracy. Isoleucine/leucine, phenylalanine, N-lactoyl-leucine, and N-acetyl-phenylalanine, and cysteinegluthatione disulfide (CYSSG) were identified by chemical standards, and hydroxyprolyl-valine was identified with MS and MS/MS experiments. A subset of 9 discriminant features, including the identified metabolites except for CYSSG, produced a fingerprint of classification value that enabled discerning ccRCC patients from healthy individuals. To our knowledge, this is the first time that N-lactoyl-leucine is associated with ccRCC. Results from this study provide a proof of concept that CM can be used as a serum proxy to obtain disease-related metabolic signatures.
Subject(s)
Biomarkers, Tumor/blood , Carcinoma, Renal Cell/blood , Kidney Neoplasms/blood , Leucine/blood , Metabolome , Adult , Aged , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/pathology , Case-Control Studies , Cell Line, Tumor , Chromatography, Liquid , Cysteine/analogs & derivatives , Cysteine/blood , Discriminant Analysis , Female , Glutathione/analogs & derivatives , Glutathione/blood , HEK293 Cells , Humans , Kidney Neoplasms/diagnosis , Kidney Neoplasms/pathology , Leucine/analogs & derivatives , Male , Metabolomics/methods , Middle Aged , Neoplasm Staging , Phenylalanine/analogs & derivatives , Phenylalanine/blood , Pilot Projects , Tandem Mass SpectrometryABSTRACT
ABSTRACT Purposes: The aim of this study was to determine the diagnostic significance of fibronectin type III domain containing protein 5 (FNDC5)/Irisin levels in the sera of patients with renal cell cancer. Materials and Methods: In the study, 48 individuals were evaluated. The patient group included 23 subjects diagnosed with renal tumor, and the control group of 25 healthy individuals. Patients diagnosed with renal tumor received surgical treatment consisting of radical or partial nephrectomy. Blood specimens were collected and serum FNDC5/Irisin and carcinoembryonic antigen (CEA) levels were determined using enzyme-linked immunosorbent assay (ELISA). Results: FNDC5/irisin and CEA levels in renal cancer patients were significantly higher compared with the control group (p=0.0001, p=0.009, respectively). Also, FNDC5 levels was more sensitive and specific than CEA levels. The best cut-off points for FNDC5/irisin were >105pg/mL and CEA were >2.67ng/mL for renal cancer. Conclusions: FNDC5/Irisin may be used as a diagnostic biomarker for renal cancer.
Subject(s)
Humans , Male , Female , Adult , Aged , Aged, 80 and over , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/blood , Carcinoembryonic Antigen/blood , Fibronectins/blood , Kidney Neoplasms/diagnosis , Kidney Neoplasms/blood , Reference Values , Enzyme-Linked Immunosorbent Assay , Carcinoma, Renal Cell/pathology , Biomarkers, Tumor/blood , Case-Control Studies , Reproducibility of Results , Retrospective Studies , Sensitivity and Specificity , Statistics, Nonparametric , Neoplasm Grading , Kidney Neoplasms/pathology , Middle Aged , Neoplasm StagingABSTRACT
ABSTRACT Purpose: To evaluate the importance of preoperative neutrophil lymphocyte ratio (NLR) predicting malignancy in patients who undergo partial nephrectomy due to renal mass. Materials and Methods: Seventy nine patients who underwent open partial nephrectomy for renal masses were included in this retrospective study. In preoperative routine blood tests, renal ultrasonography and contrast-enhanced computed tomography were performed for all patients. Preoperative neutrophil lymphocyte ratio were compared in patients with clear cell renal cell carcinoma (Group1, 65 patients) and benign lesions (Group 2, 14 patients). The predictive ability of NLR was analyzed by ROC curves and Youden Index method was used to identify the cut-off value for NLR. Results: The mean age of patients was 59.8±11.7 years in Group1 and 57.4±12.6 years in Group 2 (p=0.493). The mean tumor size was 3.8±1.2 cm in Group 1 and 3.3±1.0 cm in Group 2 (p=0.07). The median NLR was 2.48 (1.04) in Group 1 and 1.63 (0.96) in Group 2 (p<0.001). The area under a ROC curve was 0.799 (p<0.001). Conclusions: Preoperative neutrophil lymphocyte ratio may predict renal masses that can not be distinguished radiologically. Our results must be confirmed by large and properly designed prospective, randomized trials.
Subject(s)
Humans , Male , Female , Adult , Aged , Lymphocytes , Carcinoma, Renal Cell/surgery , Carcinoma, Renal Cell/blood , Kidney Neoplasms/surgery , Kidney Neoplasms/blood , Nephrectomy/methods , Neutrophils , Prognosis , Reference Standards , Reference Values , Carcinoma, Renal Cell/diagnosis , Predictive Value of Tests , Reproducibility of Results , Retrospective Studies , ROC Curve , Lymphocyte Count , Preoperative Period , Kidney Neoplasms/diagnosis , Middle AgedABSTRACT
PURPOSES: The aim of this study was to determine the diagnostic significance of fibronectin type III domain containing protein 5 (FNDC5)/Irisin levels in the sera of patients with renal cell cancer. MATERIALS AND METHODS: In the study, 48 individuals were evaluated. The patient group included 23 subjects diagnosed with renal tumor, and the control group of 25 healthy individuals. Patients diagnosed with renal tumor received surgical treatment consisting of radical or partial nephrectomy. Blood specimens were collected and serum FNDC5/ Irisin and carcinoembryonic antigen (CEA) levels were determined using enzyme-linked immunosorbent assay (ELISA). RESULTS: FNDC5/irisin and CEA levels in renal cancer patients were significantly higher compared with the control group (p=0.0001, p=0.009, respectively). Also, FNDC5 levels was more sensitive and specific than CEA levels. The best cut-off points for FNDC5/ irisin were >105pg/mL and CEA were >2.67ng/mL for renal cancer. CONCLUSIONS: FNDC5/Irisin may be used as a diagnostic biomarker for renal cancer.