OBJECTIVETo evaluate the diagnosis and treatment of hereditary renal cell carcinoma.

METHODSClinical data of 11 patients with hereditary renal cell carcinoma were analyzed retrospectively. Eight patients were male and 3 were female, age ranged from 32 to 67 (mean: age 48 years). Four cases were bilateral renal cell carcinoma, and 4 were multiple renal cell carcinoma. Two cases were diagnosed as Von Hippel-Lindau syndrome, 6 as familial clear cell renal cell cancer, and 3 as hereditary papillary renal carcinoma.

RESULTSTen patients performed nephron-sparing surgery and/or radical nephrectomy and 1 had no operation. The patients were followed up from 12 to 114 months. Tumor recurrence was observed in 4 patients, 1 patient died of tumor metastasis, and 2 died of other causes. Four patients survived free of tumor.

CONCLUSIONSHereditary renal carcinoma appears in the youth, and it is predominantly multiple and bilateral. Nephron-sparing surgery is the standard method of treatment for the patients.

Adult ; Aged ; Carcinoma, Renal Cell ; diagnosis ; genetics ; surgery ; Female ; Humans ; Kidney Neoplasms ; diagnosis ; genetics ; surgery ; Male ; Middle Aged ; Retrospective Studies

Carcinoma, Renal Cell ; classification ; diagnosis ; genetics ; pathology ; Chromosomes, Human ; Humans ; Immunohistochemistry ; methods ; Kidney Neoplasms ; classification ; diagnosis ; genetics ; pathology ; Translocation, Genetic

Adult ; Angiomyolipoma ; diagnosis ; genetics ; Exons ; genetics ; Humans ; Kidney Neoplasms ; diagnosis ; genetics ; Male ; Mutation ; genetics ; Tuberous Sclerosis ; complications ; Tuberous Sclerosis Complex 2 Protein ; genetics ; Young Adult

Renal cell carcinoma (RCC) is an important contributor to cancer-specific mortality worldwide. Targeted agents that inhibit key subtype-specific signaling pathways have improved survival times and have recently become part of the standard of care for this disease. Accurately diagnosing and classifying RCC on the basis of tumor histology is thus critical. RCC has been traditionally divided into clear-cell and non-clear-cell categories, with papillary RCC forming the most common subtype of non-clear-cell RCC. Renal neoplasms with overlapping histologies, such as tumors with mixed clear-cell and papillary features and hybrid renal oncocytic tumors, are increasingly seen in contemporary practice and present a diagnostic challenge with important therapeutic implications. In this review, we discuss the histologic, immunohisto-chemical, cytogenetic, and clinicopathologic aspects of these differential diagnoses and illustrate how the classification of RCC has evolved to integrate both the tumor's microscopic appearance and its molecular fingerprint.
Biopsy, Large-Core Needle ; Carcinoma, Renal Cell ; classification ; diagnosis ; genetics ; pathology ; DNA Copy Number Variations ; DNA, Neoplasm ; genetics ; Diagnosis, Differential ; Humans ; Kidney Neoplasms ; classification ; diagnosis ; genetics ; pathology

Adenocarcinoma, Follicular ; genetics ; metabolism ; pathology ; Carcinoma, Papillary ; genetics ; metabolism ; pathology ; Carcinoma, Renal Cell ; genetics ; metabolism ; pathology ; Diagnosis, Differential ; Humans ; Immunohistochemistry ; Kidney Diseases, Cystic ; genetics ; metabolism ; pathology ; Kidney Neoplasms ; genetics ; metabolism ; pathology ; Thyroid Neoplasms ; genetics ; metabolism ; pathology ; Translocation, Genetic

Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant genodermatosis characterized by cutaneous hair follicle tumors (fibrofolliculoma or trichodiscoma), pulmonary cysts, and increased risk of renal neoplasia. The genetic alteration for BHDS has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHDS. Mutations in the BHD gene (also known as FLCN) have been described in the patients with BHDS. We present a case of a 30-yr-old Korean woman with multiple mildly pruritic papules on her face and neck area. The patient had several firm, flesh-colored, dome-shaped, papular lesions measuring between 2 to 5 mm. Except for a history of pneumothorax her medical records were not remarkable. Mutation analysis of the BHD gene was performed, and a novel deletion mutation (p.F519LfsX17 [c.1557delT]) causing truncation of the gene product, folliculin, was found in the exon 14. The actual incidence of BHDS is unknown, but it is most likely underdiagnosed. So it is imperative that doctors recognize the skin lesions of BHDS and institute proper screening to detect other manifestations of the disease. Here, we report a case of BHDS with a novel mutation, which is the first report in Korea.
Adult ; Biopsy ; DNA Mutational Analysis ; Diagnosis, Differential ; Estrone/biosynthesis ; Exons ; Female ; Gene Deletion ; Genetic Predisposition to Disease ; Humans ; Kidney Neoplasms/genetics ; Models, Genetic ; Mutation ; Skin Diseases/diagnosis/*genetics ; Syndrome

Accidents ; Adolescent ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; genetics ; metabolism ; Carcinoma, Renal Cell ; genetics ; pathology ; surgery ; Chromosomes, Human, X ; Diagnosis, Differential ; Gene Fusion ; Humans ; Kidney ; injuries ; Kidney Neoplasms ; genetics ; pathology ; surgery ; Lymphatic Metastasis ; Male ; Translocation, Genetic

OBJECTIVETo investigate the expression of MN/CAIX in patients with renal cell carcinoma (RCC) and assess the value of MN/CAIX in the diagnosis of RCC.

METHODSRT-PCR was employed to detect MN/CAIX mRNA in the carcinoma tissue and peripheral blood of 62 patients with RCC, using normal renal tissue and peripheral blood sample from 32 patients without RCC as control. Immunohistochemistry was used to detect MN/CAIX protein in the tissue specimens of clear cell RCC (n=36), non-clear cell renal neoplasm (n=17) and normal kidney (n=16).

RESULTSThe positivity rate of MN/CAIX mRNA was 82.3% (51/62) in renal carcinoma tissues and 54.8% (34/62) in the peripheral blood from patients with RCC, significantly higher than the rates in the control cases (P<0.05). In cases of clear cell renal cell carcinoma, the positivity rate of MN/CAIX mRNA was 98% (49/50) in the carcinoma tissues and 66% (33/50) in the peripheral blood, significantly higher than the rates in cases of non-clear cell type of RCC (P<0.05). Immunohistochemistry showed a significantly higher positivity rate of MN/CAIX protein in clear cell RCC tissues [97.2% (35/36)] than in non-clear cell renal neoplasm and normal renal tissues (P<0.05).

CONCLUSIONMN/CAIX is specifically overexpressed in RCC, especially in clear cell RCC, suggesting its potential in the diagnosis and prognostic and therapeutic evaluation of RCC.

Adult ; Aged ; Antigens, Neoplasm ; genetics ; metabolism ; Biomarkers, Tumor ; Carbonic Anhydrase IX ; Carbonic Anhydrases ; genetics ; metabolism ; Carcinoma, Renal Cell ; diagnosis ; metabolism ; Female ; Humans ; Kidney Neoplasms ; diagnosis ; metabolism ; Male ; Middle Aged ; RNA, Messenger ; genetics ; metabolism ; Young Adult

Diagnosis, Differential ; Fetus ; Fibroma ; metabolism ; pathology ; Fibrosarcoma ; congenital ; genetics ; metabolism ; secondary ; Hemangiopericytoma ; metabolism ; pathology ; Humans ; Kidney Neoplasms ; pathology ; secondary ; Liver Neoplasms ; pathology ; secondary ; Lung Neoplasms ; pathology ; secondary ; Male ; Nerve Sheath Neoplasms ; metabolism ; pathology ; Rhabdomyosarcoma, Embryonal ; metabolism ; pathology ; Soft Tissue Neoplasms ; congenital ; genetics ; metabolism ; pathology ; Vimentin ; metabolism

Adenoma ; genetics ; metabolism ; pathology ; surgery ; Adult ; Carcinoma, Renal Cell ; genetics ; metabolism ; pathology ; Chromosomes, Human, Pair 3 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Diagnosis, Differential ; Diploidy ; Female ; Follow-Up Studies ; Humans ; Kidney Neoplasms ; genetics ; metabolism ; pathology ; surgery ; Male ; Middle Aged ; Retrospective Studies ; S100 Proteins ; metabolism ; Vimentin ; metabolism ; WT1 Proteins ; metabolism ; Wilms Tumor ; metabolism ; pathology