Journal of Pathology and Translational Medicine

Case Reports

Multifocal Renal Cell Carcinoma of Different Histological Subtypes in Autosomal Dominant Polycystic Kidney Disease: Ki Yong Na, Hyun-Soo Kim, Yong-Koo Park, Sung-Goo Chang, Youn Wha Kim; Korean J Pathol. 2012;46(4):382-386. Published online August 23, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.4.382

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Renal cell carcinoma (RCC) in autosomal dominant polycystic kidney (ADPKD) is rare. To date, 54 cases of RCC in ADPKD have been reported. Among these, only 2 cases have different histologic types of RCC. Here we describe a 45-year-old man who received radical nephrectomy for multifocal RCC with synchronous papillary and clear cell histology in ADPKD and chronic renal failure under regular hemodialysis. The case reported herein is another example of the rare pathological finding of RCC arising in a patient with ADPKD.

Citations

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Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature
Poorva Vias, Shikha Goyal, Renu Madan, Nandita Kakkar, Ridhi Sood, Kannan Periasamy, Rajender Kumar
Indian Journal of Medical and Paediatric Oncology.2024; 45(02): 188. CrossRef
Detection of two synchronous histologically different renal cell carcinoma subtypes in the same kidney: a case report and review of the literature
Mohamed Sakr, Merhan Badran, Sarah Ahmed Hassan, Mohamed Elsaqa, Mohamed Anwar Elwany, Nevine M. F. El Deeb, Mohamed Sharafeldeen
Journal of Medical Case Reports.2024;[Epub] CrossRef
The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series
Petronella Orosz, Zita Kollák, Ákos Pethő, András Fogarasi, György Reusz, Kinga Hadzsiev, Tamás Szabó
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Autosomal dominant polycystic kidney disease coming up with an unusual presentation of renal cell carcinoma on its first encounter
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Molecular and Clinical Oncology.2021;[Epub] CrossRef
Xp11.2 translocation renal cell carcinoma in the autosomal dominant polycystic kidney disease patient with preserved renal function
Hyuk Huh, Hyung Ah Jo, YongJin Yi, Seung Hyup Kim, Kyung Chul Moon, Curie Ahn, Hayne Cho Park
The Korean Journal of Internal Medicine.2017; 32(6): 1108. CrossRef
The Association between Autosomal Dominant Polycystic Kidney Disease and Renal Cell Carcinoma
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Open Journal of Urology.2015; 05(06): 84. CrossRef
The MSCT and MRI findings of collecting duct carcinoma
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Diagnostic Pathology.2013;[Epub] CrossRef

A Case Report of Renal Cell Carcinoma in a Polycystic Kidney: A case report.: Kyoung Chan Choi, Joon Hyuk Choi, Won Hee Choi; Korean J Pathol. 1996;30(1):57-60.

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Abstract PDF: A forty-nine-year-old woman with polycystic disease had a right nephrectomy for what was preoperatively thought to be a polycystic disease, but at surgery turned out to be a tumor based on frozen section. Microscopic examination revealed papillary type, renal cell carcinoma with classical features of adult polycystic kidneys. Radiologic findings revealed multiple cysts in the liver. The clinical recognition of a carcinoma developing in polycystic kidneys is often difficult because of the presence of preexisting large renal masses and occasional hematuria. Renal cell carcinoma should be thought of when confronted with abdominal pain or back pain, severe hematuria, sudden dysuria or a new renal mass occurring in a patient with polycystic kidneys.

Potter's Syndrome with Adult Polycystic Renal Disease: An autopsy case report.: Hwa Sook Jeong, Beom Soo Park, Geon Kook Lee; Korean J Pathol. 1997;31(4):361-365.

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Abstract PDF: Potter's syndrome including bilateral renal agenesis or polycystic renal disease, bilateral pulmonary hypoplasia and characteristic face was first described in 1946. Although a great number of cases of Potter's syndrome was reported, Potter's syndrome with adult polycystic kidney disease(Potter type III) was very rarely found. In this report, we described an autopsy case of Potter's syndrome having adult polycystic kidneys disease, bilateral pulmonary hypoplasia and characteristic face in conjunction with multiple hepatic cysts, features of congenital hepatic fibrosis and a pancreatic cyst. Microscopically, all cysts were lined by cuboidal epithelial cells, showing positive for epithelial membrane antigen and cytokeratins.

Original Article

Morphologic Characterization of Polycystic Kidney in inv Transgenic Mouse.: Yeon Lim Suh, Mi Kyung Kim, Joungho Han; Korean J Pathol. 1998;32(7):479-487.

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Abstract: The aim of this study was to characterize the morphology of a polycystic kidney which was found in 100% of the transgenic mice homozygous for inv mutation and to gain insight into the pathogenesis of inherited polycystic kidney disease during the pre- and postnatal periods. The fetal and postnatal kidneys from the homozygous and heterozygous transgenic mice were examined by the light, transmission and scanning electron microscopes, image analyzer, and an immunohistochemistry utilizing the antibodies specific for each segment of the renal tubules (Tetragonolobus purpureas, Arachis hypogaea, Tamm-Horsfall protein, AE1/AE3, EMA, vimentin, Phaseolus vulgaris) was performed to determine the site of origin of renal cysts. Two developmental phases of a cystic disease were identified. The first phase, seen in fetal kidneys, was characterized by dilatation mainly of the proximal tubules and a few distal tubules. The later phase, in postnatal period, was characterized by progressive enlargement of the kidneys due to mainly cystic change of the collecting ducts, which distorted the normal architecture of both cortex and medulla and almost completely replaced the renal parenchyma. The cystic dilatation involved all segments of the nephron and the collecting duct as well as the Bowman's spaces of glomeruli. The epithelial cell hyperplasia was found as a micropolyp formation within the renal cysts and an increase in PCNA positive cells. These findings suggest that a cyst is not simply a ballooning of a renal tubule and the stretching of cells, formerly thought to be due to an altered compliance of an abnormal basement membrane, but indeed the result of increased numbers of tubular epithelial cells.

Case Reports

Polycystic Kidney Disease Presenting as Subarachnoid Hemorrhage Due to Ruptured Cerebral Aneurysm: An Autopsy Case.: Yoo Duk Choi, Han Young Lee, Youn Shin Kim; Korean J Pathol. 2006;40(6):469-471.

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Abstract PDF: Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by multiple expanding cysts in both kidneys, and they ultimately destroy the renal parenchyma and cause renal failure. Intracranial aneurysms are found in approximately 10% to 15% of ADPKD patients. Subarachnoid hemorrhage (SAH) from a ruptured intracranial aneurysm is a frequent complication in patients with ADPKD and it makes up a considerable proportion of the causes of death in this group of patients. We report here an autopsy case of polycystic kidney disease that was morphologically identical to ADPKD, and the patients had presented after death with SAH due to a ruptured cerebral aneurysm.

Meckel-Gruber Syndrome: An autopsy case report.: Kyung Ha Kang, Duck Hwan Kim, Hee Jin Chang, In Sook Kim, Jin Hee Sohn, Jung Il Suh; Korean J Pathol. 1994;28(2):200-202.

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Abstract PDF: Meckel-Gruber syndrome is a quite rare congenital disorder, characterized by posterior encepalocele, cleft palate and lip, polycystic kidneys, hepatic fibrosis with bile duct proliferation, and postaxial polydactyly and syndactyly. We experienced an autopsy case of M eckel-Gruber syndrome in a second baby of 28 year-old woman. At 26 weeks of gestation, congenital anomaly was detected on ultrasonographic examination and the pregnancy was terminated. Familial history was not noted.

Meckel-Gruber Syndrome: An autopsy case.: Soong Deok Lee, Chul Woo Kim, Je Geun Chi; Korean J Pathol. 1988;22(4):505-509.

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Abstract PDF: We report an autopsy of a male fetus that showed multiple congenital anomalies that could best be designated as Meckel-Gruber syndrome. The fetus was born dead at the gestational age of 38 weeks. His parents denied any history of congenital malformation. And the parity of the mother was 0-0-0-0, but she had the past history of receiving herb medication for common cold. The congenital anomalies found in this case consited of occipital meningoencephalocele, midline cleft palate, bifid epiglottis, hepatic fibrosis, choledochal cyst, bilateral polycystic kidneys, postaxial polydactyly of both hands and feet, aplasia of the left testis, secundum type atrial septal defect and patent ductus arterious. This malformation syndrome is rare and lethal. The prenatal diagnosis should be made by ultrasound study or analysis of the amniotic fluid for alpha-feto protein during intrauterine period. The kidneys showed Potter type III cystic change and there was a characteristic hepatic fibrosis.

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