Gene expression profiling of renal medullary carcinoma

Yang, Ximing J.; Sugimura, Jun; Tretiakova, Maria; Furge, Kyle A.; Zagaja, Gregory P.; Sokoloff, Mitchell H.; Pins, Michael; Bergan, Raymond C.; Grignon, David J.; Stadler, Walter M.; Vogelzang, Nicholas J.; Teh, Bin Tean

doi:10.1002/cncr.20049

Cited by 94 publications

(66 citation statements)

References 88 publications

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“…10 Renal medullary carcinoma shares similarities with high-grade urothelial carcinoma with regard to its location, infiltrating pattern and tumor cell morphology. 15 Of interest is the case reported by Figenshau 16 that showed an association of renal medullary carcinoma and urothelial carcinoma. The authors speculated whether the finding represents a collision tumor or dedifferentiation of the pelvic urothelial carcinoma.…”

Section: Discussionmentioning

confidence: 99%

Renal medullary carcinoma: report of seven cases from Brazil

et al. 2007

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We report seven cases of renal medullary carcinoma collected from several institutions in Brazil. In spite of a relatively high incidence of sickle cell trait in Brazil, this is a rare tumor. All patients were males between the ages of 8 and 69 years (mean 22 years). From the collected information, the most frequent presenting symptoms were gross hematuria and flank or abdominal pain. The duration of symptoms ranged from 1 week to 5 months. Most of the tumors were poorly circumscribed arising centrally in the renal medulla. Size ranged from 4 to 12 cm (mean 7 cm) and hemorrhage and necrosis were common findings. All seven cases described showed sickled red blood cells in the tissue and six patients were confirmed to have sickle cell trait. All cases disclosed the characteristic reticular pattern consisting of tumor cell aggregates forming spaces of varied size, reminiscent of yolk sac testicular tumors of reticular type. Other findings included microcystic, tubular, trabecular, solid and adenoid-cystic patterns, rhabdoid-like cells and stromal desmoplasia. A peculiar feature was suppurative necrosis typically resembling microabscesses within epithelial aggregates. The medullary carcinoma of the 69-year-old patient was associated with a conventional clear cell carcinoma. To our knowledge, this association has not been previously reported and the patient is the oldest in the literature. The survival after diagnosis or admission ranged from 4 days to 9 months. The 8-year-old African-Brazilian patient with a circumscribed mass is alive and free of recurrence 8 years after diagnosis. This case raises the question whether a periodic search for renal medullary carcinoma in young patients who have known abnormalities of the hemoglobin gene and hematuria could result in an early diagnosis and a better survival. Modern Pathology (2007) 20, 914-920;

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Section: Discussionmentioning

confidence: 99%

Renal medullary carcinoma: report of seven cases from Brazil

et al. 2007

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“…Gene expression profiling showed 487 genes to be expressed differently from that of other types of renal tumor, with an expression most closely resembling urothelial carcinoma. 25 In three cases FISH analysis showed amplification of the ABL gene, with increased expression of ABL protein in two cases. In this series no evidence of BCR-ABD translocation was detected, in contradiction to the report of Stahlschmidt et al 34 based on a single case.…”

Section: Renal Medullary Carcinomamentioning

confidence: 95%

“…33 The immunohistochemical expression of medullary carcinoma has been reported from several studies. 24,25,31 All tumors show positive and diffuse expression for cytokeratin AE1/AE3, low molecular weight cytokeratin, EMA, vimentin, HIF and VEGF. Cytokeratin 7 and carcinoembryonic antigen was focally expressed in all cases, whereas there was a variable expression of high molecular weight cytokeratin, Ulex europeaus agglutinin-1 and TP53.…”

Section: Renal Medullary Carcinomamentioning

confidence: 99%

“…On this basis the tumor, which was termed medullary carcinoma on morphologic grounds, was designated the seventh sickle cell nephropathy (the others being gross hematuria, papillary necrosis, nephrotic syndrome, renal infarction, inability to concentrate urine and pyelonephritis); 23 since the original study over 160 cases have been reported. [24][25][26][27][28][29][30][31][32][33] Patient age at diagnosis ranges from 5 to 69 years with a mean age of 19 years. There is a male predominance with a male/female ratio of 2:1, although for patients o10 years the male/female ratio is 5:1.…”

Section: Renal Medullary Carcinomamentioning

confidence: 99%

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Uncommon and recently described renal carcinomas

2009

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Major consensus conferences held over a decade ago laid the foundations for the current (2004) WHO classification of renal carcinoma. Clear cell, papillary and chromophobe carcinomas account for 85-90% carcinomas seen in routine practice. The remaining 10-15% of carcinomas consist of rare sporadic and hereditary tumors, some of which had been long recognized, but many of which only emerged as distinct entities in the decade leading up to the WHO publication. Collecting-duct carcinoma is a rare, often lethal form of carcinoma. Medullary carcinoma associated with sickle cell trait, has emerged as a distinctive tumor showing some overlapping features with upper tract urothelial carcinoma. Mucinous tubular and spindle-cell carcinoma and tubulocystic carcinoma were earlier considered as patterns of low-grade collecting-duct carcinoma, but are now recognized as separate tumor entities. Carcinomas associated with somatic translocations of TFE3 and TFEB comprise a significant proportion of pediatric renal carcinomas. Oncocytoid renal carcinomas in neuroblastoma survivors was recognized as a unique tumor category in the WHO classification. Renal carcinoma associated with end-stage renal disease is now recognized as having distinct morphological patterns and behavior. In addition there is a group of rare recently described carcinomas, including clear cell papillary carcinoma, oncocytic papillary renal cell carcinoma, follicular renal carcinoma and leiomyomatous renal cell carcinoma. It behooves the surgical pathologist to not only be capable of diagnosing the common forms of renal cancer, but also to be aware of the rare types of renal carcinoma, many of which have emerged in recent years.

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“…In a separate report, Yang et al suggested presence of hypoxia related and unrelated genetic abnormalities in significant number of cases, and hinted their role in the pathogenesis of RMC. 20 Recent studies looking into the cytogenetic abnormalities of RMC have failed to identify any consistent abnormalities across cases, and have also brought into question the aforementioned theory by Swartz on the grounds of cases in caucasian patients without hemoglobinopathies. 21,22 Gao et al, had recently shown involvement of genes in signaling pathways such as phosphatidylinositol 3-kinasePIK3C2G), cell cycle control (CDC25D and CDC73), and histone synthesis (HIST2H3D) based on molecular analysis of 11 patient specimens in a retrospective fashion.…”

Section: 10-17mentioning

confidence: 99%