Sarcomatoid renal cell carcinoma with autosomal dominant polycystic kidney disease: a case report and literature review

Hakozaki, Yuji; Uchiyama, Kiyotaka; Yanai, Akane; Yamada, Daisuke; Kamijo, Yuka; Ishibashi, Yoshitaka

doi:10.1007/s13730-020-00544-z

Cited by 5 publications

(7 citation statements)

References 35 publications

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“…5 6 Metastatic disease is noted in nearly 20 to 23% patients with RCC in the setting of ADPKD, possibly due to a delay in diagnosis. 9 10…”

Section: Discussionmentioning

confidence: 99%

“…5,6 Metastatic disease is noted in nearly 20 to 23% patients with RCC in the setting of ADPKD, possibly due to a delay in diagnosis. 9,10 Distinguishing new RCC within ADPKD is particularly challenging. The only definitive suspicion could arise from symptoms and findings related to metastatic disease.…”

Section: Discussionmentioning

confidence: 99%

“…MRI may show high signal on T1-weighted images, low signal on T2, and diffusion restriction on diffusion-weighted imaging; these findings may also occur in cyst infections, and if fever is the presenting symptom, there may be more confusion than clarity. 10 11 When suspicion is high and both CT and MRI are indeterminate, open biopsy or nephrectomy may be necessary to exclude malignancy. Role of PET-contrast-enhanced CT (CECT) in diagnosis is also limited since kidneys physiologically excrete FDG as well and malignant cysts may not appear very different from ADPKD cysts and FDG uptake is only slightly higher than normal renal parenchymal uptake; however, it is definitely useful in metastatic disease.…”

Section: Discussionmentioning

confidence: 99%

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Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature

Vias

Goyal

Madan

et al. 2023

Indian J Med Paediatr Oncol

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Patients with autosomal dominant polycystic kidney disease (ADPKD), especially those with renal failure, carry a higher risk of developing renal cell carcinoma (RCC) compared to the general population. Genetic mutations associated with ADPKD are known but a direct link associated with RCC is still controversial. We discuss the clinical course of two such patients. The first patient was diagnosed with ADPKD at the age of 10 years with an unreported tubulocystic RCC focus on his renal biopsy that was picked up on review 16 years later when he presented with vertebral metastases determined to have originated from the RCC. He was doing well on multikinase inhibitors till 4 years of diagnosis with metastatic disease when he succumbed to progressive disease after 3 lines of systemic therapy. The second patient was diagnosed with ADPKD in middle age and papillary RCC 3 years later. Within 3 months of cancer diagnosis, there was progression to metastatic disease and rapid decline despite systemic therapies. We surmise that the diagnosis of RCC may be missed in ADPKD till the advanced stages. Patients with ADPKD should be monitored regularly with imaging and biopsy if needed. Histology may be varied but once diagnosed, systemic therapies may help disease control.

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“…5 6 Metastatic disease is noted in nearly 20 to 23% patients with RCC in the setting of ADPKD, possibly due to a delay in diagnosis. 9 10…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature

Vias

Goyal

Madan

et al. 2023

Indian J Med Paediatr Oncol

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“…In several studies, malignant lesions were found in ADPKD cases without any clinical symptoms of malignancy. Malignant lesions were usually discovered incidentally in nephrectomy specimens [ 5 , 6 ]. The prevalence of RCC in ADPKD patients was 8.73% (7/84 kidneys) [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

“…The prognosis of ADPKD with RCC remains unclear, and the high incidence of RCC found in ADPKD patients in earlier research may simply be the result of end-stage renal disease (ESRD) brought on by ADPKD [6] . Compared to clear cell RCC, papillary RCC is considered to have a better prognosis [7] .…”

Section: Discussionmentioning

confidence: 99%

Renal cell carcinoma in autosomal dominant polycystic kidney disease: A case report

Rooseno,

Yatindra,

Djatisoesanto

et al. 2023

Radiology Case Reports

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Renal Pathology of Ciliopathies

Sekar,

Sebire

2024

Pediatr Dev Pathol

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Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension. We summarize the current understanding of the pathophysiological and pathological features of renal ciliopathies in childhood, including autosomal dominant and recessive polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome, as well as skeletal dysplasia associated renal ciliopathies. The genetic basis of these disorders is now well-established in many cases, with mutations in a large number of cilia-related genes such as PKD1, PKD2, BBS, MKS, and NPHP being responsible for the majority of cases. Renal ciliopathies are broadly characterized by development of interstitial fibrosis and formation of multiple renal cysts which gradually enlarge and replace normal renal tissue, with each condition demonstrating subtle differences in the degree, location, and age-related development of cysts and fibrosis. Presentation varies from prenatal diagnosis of congenital multisystem syndromes to an asymptomatic childhood with development of complications in later adulthood and therefore clinicopathological correlation is important, including increasing use of targeted genetic testing or whole genome sequencing, allowing greater understanding of genetic pathophysiological mechanisms.

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Sarcomatoid renal cell carcinoma with autosomal dominant polycystic kidney disease: a case report and literature review

Cited by 5 publications

References 35 publications

Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature

Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature

Renal cell carcinoma in autosomal dominant polycystic kidney disease: A case report

Renal Pathology of Ciliopathies

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