Renal Cell Carcinoma Presenting Research Articles

Paraneoplastic Neuromyelitis Optica Associated with Renal Cell Carcinoma Presenting with Tumefactive Demyelination Lesions

Paraneoplastic Neuromyelitis Optica Associated with Renal Cell Carcinoma Presenting with Tumefactive Demyelination Lesions

Primary extrarenal papillary type II renal cell carcinoma presenting as a pelvic mass: a case report and review of the literature

Abstract We report a case of a 57 years old woman with a solitary mass located in the pelvis diagnosed as an extrarenal papillary renal cell carcinoma, in the absence of a primary renal cancer. The diagnosis was based on cytomorphological features and further confirmed by immunochemistry findings following surgical excision. The hypothesis of a tumor developing in a supernumerary or ectopic kidney was excluded, since no normal renal tissue could be identified in the specimen and in the preoperative computed tomography and MRI images.

A Rare Presentation of Bilateral Multifocal and Multitype Renal Cell Carcinoma in End Stage Renal Disease

A Rare Presentation of Bilateral Multifocal and Multitype Renal Cell Carcinoma in End Stage Renal Disease

Abstract 4298: Predicting tumor evolution from digital histology using AI

Abstract Diverse clinical presentations of clear cell renal cell carcinoma (ccRCC) confound clinical decision making, leading to over and undertreatment. Clonal evolution of ccRCC proceeds through distinct trajectories characterised by differing levels of genomic intratumoral heterogeneity (gITH) and chromosomal complexity (weighted genomic instability index, wGII). However, accurate evaluation of these indices requires multiregional profiling of fresh tumour; cost prohibitive and logistically challenging in the clinical setting. Clinical histopathology workflows routinely capture multiple tumour areas enabling the use artificial intelligence (AI) to predict tumour evolutionary features directly from clinical grade H&E whole slide image (WSIs). ccRCC displays profound genetic and histological ITH but the link between these entities remains unclear. We leverage the TRACERx Renal cohort, comprising 1485 WSIs from 81 tumours to predict WGII and gITH and to gain insights into the relationship between genetic and histological ITH. Critically, each WSI is associated with a wGII and gITH label derived from a closely linked fresh tumour sample. For both prediction tasks, we extracted meaningful features for each WSI using self-supervised representation learning “MoCo”. Since high wGII confers poor prognosis we focussed on predicting binary stratification label of high wGII or low wGII (relative to the cohort median). First we predicted wGII as a continuous variable using a supervised multiple instance learning regression model trained on the MoCo features, and then classified the predicted wGII into “high” or “low” achieving 0.80 AUROC. To predict gITH we postulated that the degree of gITH would correlate with histological ITH. Using an unsupervised clustering of refined MoCo features we defined 24 histological clusters. The number of computationally derived histological clusters within a single tumour positively correlated with gITH (pearson’s 0.56). We used the number of clusters to classify WSIs into prognostic binary groups of high or low gITH (relative to the cohort median) achieving an AUROC of 0.80. To understand the biological relationship between histological and genetic ITH we pathologically characterised the histological clusters: a pathologist annotated WSIs with tumour architecture and cytomorphology. Image tiles were associated with the annotations using spatial coordinates, illuminating phenotypic traits of different evolutionary trajectories and providing an interpretability framework for our AI pipelines. Since the tumour evolutionary course dictates disease progression tempo, applying evolutionary classification in clinic can fundamentally improve patient care. Here, for the first time, we provide a framework to translate fundamental evolutionary principles underpinning tumour biology and clinical progression into a prognostic computational pathology biomarker possible to clinically implement. Citation Format: Charlotte E. Spencer, Axel Camara, Auriane Riou, Lewis Au, Jose I. Lopez, Zayd Tippu, Charles Maussion, Kenneth Ho, Amy Strange, Emma Nye, Veronique Birault, Lydwine Van-praet, Kim Edmonds, Eleanor Carlyle, Steve Hazell, Sarah Rudman, James Larkin, Samra Turajlic. Predicting tumor evolution from digital histology using AI [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 4298.

Thyroid metastasis from renal cell carcinoma presenting as a solid mass with rapid enlargement.

Thyroid metastases from nonthyroidal malignancies (NTMs) represent a diagnostic challenge, often displaying heterogeneous clinical manifestations. These metastases are rare but significant, accounting for approximately 2% of thyroid malignancies. Distinguishing them from primary thyroid malignancies is challenging due to the lack of specific ultrasound features, and the ultrasound-based risk stratification systems offer limited utility in such cases. Fine needle aspiration cytology is crucial for definitive diagnosis, yet it may not always provide accurate results. In this case report, we describe a unique instance of thyroid metastases originating from renal cell carcinoma, emphasizing the complexities in diagnosis and the importance of considering oncological conditions when assessing thyroid masses. Awareness of thyroid metastasis from NTMs, particularly in cases of diffuse thyroid hypoechogenicity and hypothyroidism, is essential for clinicians in their diagnostic approach. Thyroid metastases from nonthyroidal malignancies are diagnostic challenges due to their heterogeneous clinical presentations, often mimicking primary thyroid malignancies. Thyroid metastases from nonthyroidal malignancies are relatively rare, but they still account for approximately 2% of thyroid malignancies. It is fundamental to consider oncological conditions when assessing thyroid masses, especially in cases of diffuse thyroid hypoechogenicity, hypothyroidism, and history of other tumors. Thyroid presentation is quite similar to that of autoimmune hypothyroidism, endocrinologists must be aware of the possibility of thyroid hypofunction due to the massive invasion of the parenchyma.

Undifferentiated Renal Cell Carcinoma Presenting As Wunderlich Syndrome: A Case Report

Wunderlich syndrome is a spontaneous, non-traumatic, sub-capsular perinephric hematoma described by a triad of acute flank pain, the presence of flank mass, and hypovolemic shock. This acute syndrome is mostly caused by renal malignancies, particularly renal angiomyolipoma and renal cell carcinoma. Computed tomography (CT) scan is the preferred diagnostic modality for Wunderlich syndrome and its treatment depends on the cause. Herein, we present a 41- year-old male admitted with flank pain, who was subsequently found to have thrombocytosis, hematuria, and hypotension. A computed tomographic scan revealed a kidney mass and hematoma, which was removed. Biopsy of the mass revealed undifferentiated renal cell carcinoma and the mass caused malignant pleural effusion. This case report demonstrates increasing platelet counts, which raised concern for advanced malignancy and the triad of features may not always be present. It also highlights the etiology, clinical manifestation, and management of this syndrome.

Metastatic Renal Cell Carcinoma Presenting as an Intracardiac Tumour Without Involving the Inferior Vena Cava

Metastatic Renal Cell Carcinoma Presenting as an Intracardiac Tumour Without Involving the Inferior Vena Cava

Renal Cell Carcinoma Presenting as Jaw Pain

Renal Cell Carcinoma Presenting as Jaw Pain

Renal-Limited Thrombotic Microangiopathy due to Anti-VEGF/ Tyrosine Kinase Inhibitor (TKI) Immunotherapy for Metastatic Renal Cell Carcinoma Presenting as Nephrotic Syndrome

Renal-Limited Thrombotic Microangiopathy due to Anti-VEGF/ Tyrosine Kinase Inhibitor (TKI) Immunotherapy for Metastatic Renal Cell Carcinoma Presenting as Nephrotic Syndrome

Renal Cell Carcinoma Presenting As A Cutaneous Horn

Renal-cell carcinoma develops as an insidious neoplasm, frequently metastasizing to the skin. Cutaneous manifestations vary regarding morphology and sites of predilection. A patient was recently seen demonstrating a metastasis from a renal neoplasm. The lesion was unusual in that it grossly resembled a cutaneous horn. Dermatologists should continue to be alert to the possibility of renal tumor metastasis when evaluating cutaneous tumors.

Renal Cell Carcinoma Presenting as Cutaneous Metastasis - A Case Report

Renal cell carcinoma (RCC) is recognized as an aggressive malignancy that often spreads to distant sites, including the lungs, lymph nodes, bones, liver, and brain. While cutaneous metastasis is rare and has only been documented in a few cases in medical literature, we present the case of a 55 year-old male patient with RCC. Patient was having cutaneous lesion from past 4 months and was a known case of RCC. His treatment approach included surgical removal of the skin lesions and a systemic therapy regimen using sunitinib.

Multiple Pulmonary Emboli as a Primary Presentation of Renal Cell Carcinoma

A 57-year-old housewife presented with complaints of sudden onset of chest pain and dyspnea. Computed tomography angiography revealed saddle-shaped pulmonary emboli in the main pulmonary artery and its branches. Evaluation for the cause of pulmonary embolism revealed a heterogeneously enhancing lesion arising from the anterior aspect of the lower pole of the left kidney. She had no hematuria, flank pain, or any palpable abdominal mass. She underwent a left open radical nephrectomy with inferior vena cava thrombectomy. Given that only 10% of patients present with the classic triad, it is often difficult to diagnose renal cell carcinoma in the early stages. Therefore, a high index of suspicion in patients with atypical presentations can lead to an early diagnosis.

Asymptomatic Renal Cell Carcinoma Presenting as Clavicle Fracture

Abstract Renal cell carcinoma (RCC) accounts for 3% of all cancer cases. The classical triad of hematuria, loin pain, and mass per abdomen is rarely seen. RCC commonly metastasizes to the lungs, bones, and liver. Clavicle metastasis as the sole presentation of RCC is extremely rare. A 61-year-old man presented with pain and swelling over the left clavicle. Imaging revealed a lytic lesion with pathological fracture of the left clavicle, with a histopathological diagnosis of metastasis from clear cell RCC. Subsequent imaging of the abdomen revealed a right kidney mass. He underwent right partial nephrectomy and total left cleidectomy. At 30-month follow-up, he is free of disease with good limb function. Solitary skeletal metastasis from RCC is rare, of which clavicle metastasis as the initial presentation is extremely rare. The overall prognosis of metastatic RCC is poor, emphasizing the importance of identification of the pathological nature of the fracture, for early detection and prompt treatment of the primary tumor in its early stage, thereby improving the chances of overall survival.

P16 Cutaneous renal cell carcinoma metastasis with scrofuloderma as the initial presentation of metastatic renal cell carcinoma: a diagnostic challenge

Abstract Renal cell carcinoma (RCC) with cutaneous metastasis is uncommon and accounts for approximately 3–5% of metastatic RCC, with an unfavourable prognosis. We present an unusual and difficult case of advanced RCC presenting initially with cutaneous metastasis and scrofuloderma, with identical morphology of the lesions. It also highlights the importance of dermatologists in the early diagnosis and management of such cases. A 50-year-old man presented with gradually progressive, multiple erythematous discharging nodules over the right side of his neck of 3 months’ duration. He described a weight loss of 10 kg, intermittent undocumented fever with headache and two episodes of uninvestigated transient haematuria in the last 6 months. He had received multiple courses of antibiotics without any relief. A skin biopsy and immunohistochemistry confirmed cutaneous RCC metastasis with a primary advanced metastatic left RCC, involving the brain as well. A total left nephrectomy was done and he was started on lenvatinib, everolimus and radiotherapy, following which there was suboptimal response and he started developing similar nodular lesions over the left axilla and chest wall, and a puckered crusted plaque over the left lateral abdomen 1 week post treatment. Follow-up at 8 weeks revealed a significant response in the neck lesions; however, the new lesions on the left side did not respond, following which a dermatology consultation was sought again. A skin biopsy from the new lesions confirmed scrofuloderma. Tissue polymerase chain reaction and culture were positive for mycobacterium tuberculosis. He was diagnosed as having scrofuloderma and started on daily isoniazid, rifampicin, ethambutol and pyrazinamide for 2 months followed by daily isoniazid and rifampicin for 4 months. Follow-up at 6 months revealed well-healed lesions, and the systemic symptoms and discharge had abated. The cutaneous metastatic lesions had also healed completely. Here, we present an interesting case of cutaneous RCC metastasis with coexisting scrofuloderma as the initial manifestation of an advanced RCC, posing a diagnostic challenge due to similar morphology. On this background, a recurrence of cutaneous metastasis was the first possibility considered for the new skin lesions. The delay in diagnosis led to significant morbidity in our patient, emphasizing the role of early dermatology consultation in the management of such cases. A high index of suspicion for conditions masquerading as cutaneous metastasis, as well as a lower threshold for skin biopsy, may improve the prognosis dramatically.

BI15 (P16) Cutaneous renal cell carcinoma metastasis with scrofuloderma as the initial presentation of metastatic renal cell carcinoma: a diagnostic challenge

Abstract Renal cell carcinoma (RCC) with cutaneous metastasis is uncommon and accounts for approximately 3–5% of metastatic RCC, with an unfavourable prognosis. We present an unusual and difficult case of advanced RCC presenting initially with cutaneous metastasis and scrofuloderma, with identical morphology of the lesions. It also highlights the importance of dermatologists in the early diagnosis and management of such cases. A 50-year-old man presented with gradually progressive, multiple erythematous discharging nodules over the right side of his neck of 3 months’ duration. He described a weight loss of 10 kg, intermittent undocumented fever with headache and two episodes of uninvestigated transient haematuria in the last 6 months. He had received multiple courses of antibiotics without any relief. A skin biopsy and immunohistochemistry confirmed cutaneous RCC metastasis with a primary advanced metastatic left RCC, involving the brain as well. A total left nephrectomy was done and he was started on lenvatinib, everolimus and radiotherapy, following which there was suboptimal response and he started developing similar nodular lesions over the left axilla and chest wall, and a puckered crusted plaque over the left lateral abdomen 1 week post-treatment. Follow-up at 8 weeks revealed a significant response in the neck lesions; however, the new lesions on the left side did not respond, following which a dermatology consultation was sought again. A skin biopsy from the new lesions confirmed scrofuloderma. Tissue polymerase chain reaction and culture were positive for mycobacterium tuberculosis. He was diagnosed as having scrofuloderma and started on daily isoniazid, rifampicin, ethambutol and pyrazinamide for 2 months followed by daily isoniazid and rifampicin for 4 months. Follow-up at 6 months revealed well-healed lesions, and the systemic symptoms and discharge had abated. The cutaneous metastatic lesions had also healed completely. Here, we present an interesting case of cutaneous RCC metastasis with coexisting scrofuloderma as the initial manifestation of an advanced RCC, posing a diagnostic challenge due to similar morphology. On this background, a recurrence of cutaneous metastasis was the first possibility considered for the new skin lesions. The delay in diagnosis led to significant morbidity in our patient, emphasizing the role of early dermatology consultation in the management of such cases. A high index of suspicion for conditions masquerading as cutaneous metastasis, as well as a lower threshold for skin biopsy, may improve the prognosis dramatically.

Characteristics and outcomes of T1a renal cell carcinoma presenting with metastasis.

734 Background: T1a renal cell carcinoma (RCC) is associated with excellent cure rates. However, a small fraction present with metastasis. We sought to determine the clinical characteristics, variables associated with synchronous metastasis, and survival outcomes in patients with pT1a and cT1a RCC using the National Cancer Database (NCDB). We secondarily evaluated whether surgery impacted risk of all cause mortality in cT1a RCC with synchronous lung and bone metastasis. Methods: From 2004 to 2019, all cases of RCC in patients age ≥18 were extracted from NCDB. pT1a and cT1a RCC were characterized as those 1) with no metastasis at diagnosis, 2) with synchronous metastasis [pT1aNxM1 at diagnosis]. Impact of surgery on all cause mortality was not evaluated for cT1a with synchronous metastasis to liver and brain due to low sample sizes. Results: The table describes selected characteristics of the cohorts. On multivariable logistic regression, diagnosis of pT1a with synchronous metastasis was associated with age (OR 1.02), male sex (OR 1.64), tumor size (OR 1.84), cN1 (OR 1.08), sarcomatoid (OR 5.50), tumor grade (OR 2.84) (p<0.005 for these variables); and inversely with diagnosis in 2016-2019 (OR 0.66, p=0.044) and papillary histology (OR 0.45, p<0.001). On multivariable Cox regression of the cT1a cohort, ACM was associated with Charlson score (HR 1.50, p<0.001), metastasis to >1 site (HR 2.48, p=0.032), and inversely with radical (HR 0.42, p<0.001) and partial nephrectomy (HR 0.31, p<0.001). In cT1a with lung metastasis, partial (HR 0.06, p=0.049) and radical nephrectomy (HR 0.17, p=0.006) was inversely associated with ACM, while surgery of distant site was not. In cT1a with bone metastasis, partial (HR 0.21, p<0.001) and radical nephrectomy (HR 0.32, p<0.001) were the only variables inversely associated with ACM. 5-year overall survival for pT1a with synchronous metastasis is 39.4%; for cT1a with synchronous metastasis is 20.9%. Conclusions: Known prognostic features were associated with synchronous metastasis in T1a RCC. Surgical resection of primary site may impact risk of all cause mortality in select cases of synchronous metastatic disease. [Table: see text]

Acrometastasis as the First Presentation of Renal Cell Carcinoma

Acrometastasis is the term used to describe secondaries present distal to the knee or elbow [1-3]. The occurrence of this is extremely rare. This accounts for 0.1% of all secondaries to the bone [1-5]. The presence of acrometastasis is considered to be a sinistrous sign and correlates with the advanced stage of the disease condition [1, 2, 5]. The majority of acrometastasis is from lung and gastrointestinal malignancies [1-3]. We present a case of a gentleman in his early 60’s, who presented with acrometastasis as the first sign of renal cell carcinoma.

A case report: a renal squamous cell carcinoma presenting as a nephrocutaneous fistula

BackgroundPrimary renal squamous cell carcinoma is a scarce entity, and its presentation as a discharging sinus is still exceptionally rare. We hereby report a case of a renal cell carcinoma in a young gentleman.Case presentationWe report a case of a 20-year-old gentleman who presented with clinical features suggestive of left side xanthogranulomatous pyelonephritis (XGPN). He had undergone multiple endourological procedures for left side renal calculi in the past. We present the clinical presentation, diagnostic dilemmas and treatment for this patient. We performed an open radical nephrectomy for this patient. Our case report is unique from the point of view of nature of presentation to the final histopathological outcome in terms of age group of the patient.Here we present the clinical management and dilemmas in the management of this unusual and rare case.ConclusionsOur case report and presentation has taught us that we as clinicians must have a high index of suspicion for a renal malignancy when treating patients who present with pyonephrosis associated with long-standing calculi diseases, irrespective of the age group of the patient.

Concurrent Presentation of Light Chain Amyloidosis and Renal Cell Carcinoma in an Elderly Male : A Case Report and Review of the Literature

Amyloidosis is often known as “the great imitator,” as the clinical diagnosis of AL amyloidosis is quite challenging and often delayed, given multi-organ involvement. We present a unique case of an elderly male who presented with an eight-month history of progressive lower extremity edema and dyspnea and was admitted for syncope, anasarca, and severe dyspnea. He was diagnosed with renal failure, nephrotic syndrome, a large renal mass, and severe non-ischemic cardiomyopathy. A renal resection was performed, and renal cell carcinoma (RCC) and light chain (AL) amyloidosis were diagnosed.

Metastatic renal cell carcinoma presenting as gastric ulceration: Case series & literature review

Renal Cell Carcinoma (RCC) accounts for approximately 3% of all adult malignancies. RCC has a propensity to metastasize along the hematogenous route