Cystic embryonal sarcoma of kidney

Delahunt, Brett; Beckwith, J. Bruce; Eble, John N.; Fraundorfer, Mark R.; Sutton, T.; Trotter, G.

doi:10.1002/(sici)1097-0142(19980615)82:12<2427::aid-cncr17>3.0.co;2-r

Cited by 28 publications

(41 citation statements)

References 17 publications

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“…18 Other categories including embryonal sarcoma or embryonal rhabdomyosarcoma of kidney may also include some DICER1 sarcomas. 30, 31, 32 Certainly there is sufficient morphologic overlap with anaplastic Wilms tumor that a few of these high-grade renal neoplasms may have been regarded as variants of anaplastic Wilms tumor. Identification of a residual cystic nephroma component with or without a cambium layer would be a clue to the diagnosis if present, but, given the experience with pleuropulmonary blastoma, solid or type III pleuropulmonary blastomas do not have residual cystic elements and possibly not all pleuropulmonary blastomas progress from a cystic stage, but this progression from a cystic stage to a solid primitive sarcoma has been observed in a number of Registry cases.…”

Section: Discussionmentioning

confidence: 99%

DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma

et al. 2014

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The pathogenesis of cystic nephroma of the kidney has interested pathologists for over 50 years. Emerging from its initial designation as a type of unilateral multilocular cyst, cystic nephroma has been considered as either a developmental abnormality or a neoplasm or both. Many have viewed cystic nephroma as the benign end of the pathologic spectrum with cystic partially differentiated nephroblastoma and Wilms tumor, while others have considered it a mixed epithelial and stromal tumor. We hypothesize that cystic nephroma, like the pleuropulmonary blastoma in the lung, represents a spectrum of abnormal renal organogenesis with risk for malignant transformation. Here we studied DICER1 mutations in a cohort of 20 cystic nephromas and 6 cystic partially differentiated nephroblastomas, selected independently of a familial association with pleuropulmonary blastoma and describe four cases of sarcoma arising in cystic nephroma, which have a similarity to the solid areas of type II or III pleuropulmonary blastoma. The genetic analyses presented here confirm that DICER1 mutations are the major genetic event in the development of cystic nephroma. Further, cystic nephroma and pleuropulmonary blastoma have similar DICER1 loss of function and “hotspot” missense mutation rates which involve specific amino acids in the RNase IIIb domain. We propose an alternative pathway with the genetic pathogenesis of cystic nephroma and DICER1-renal sarcoma paralleling that of type I to type II/III malignant progression of pleuropulmonary blastoma.

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Section: Discussionmentioning

confidence: 99%

DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma

et al. 2014

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“…Prior to their recognition, many of these tumors had been classified under the term "embryonal sarcoma of the kidney," a term used to describe otherwise unclassifiable primitive renal sarcomas with an often prominent cystic component. 44 The latter entity appeared however to be heterogeneous at the clinical, pathologic, and immunohistochemical levels. The observation that one such neoplasm demonstrated a t(X;18) on cytogenetic analysis suggested that a subset of these tumors might be synovial sarcomas, a postulate that was subsequently confirmed by molecular analysis.…”

Section: Overviewmentioning

confidence: 99%

Recent Advances in Pediatric Renal Neoplasia

Argani¹,

Ladanyi²

2003

Advances in Anatomic Pathology

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Over the past 6 years, molecular genetic studies have significantly advanced our understanding of pediatric renal neoplasms. The cellular variant of congenital mesoblastic nephroma (but not the classic variant) has been shown to bear the same t(12;15)(p13;q25) and ETV6-NTRK3 gene fusion as infantile fibrosarcoma, a tumor with which it shares morphologic and clinical features. Rhabdoid tumor of the kidney is characterized by deletion of the hSNF5/INI1 gene, which links it to other rhabdoid tumors of infancy that arise in the soft tissue and brain. Primary renal synovial sarcomas and renal primitive neuroectodermal tumors have become accepted entities, and likely comprise a subset of what had previously been termed "adult Wilms tumor." Renal carcinomas associated with Xp11.2 translocations that result in fusions involving the TFE3 transcription factor gene have been delineated, including a distinctive neoplasm that shares the identical gene fusion as alveolar soft part sarcoma. Most recently, a distinctive type of renal neoplasm with a t(6;11)(p21;q12) has been described, and the cloning of the resulting gene fusion links it to the Xp11 translocation carcinomas. Together, these last two translocation-associated tumors represent a significant proportion of pediatric renal cell carcinomas. This review highlights each of these recent advances.

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“…A novel type of malignancy, CESK was reported in 1998 by Delahunt et al (1), who found 25 similar cases in the files of the National Wilms' Tumor Study Pathology Center. This series of 25 cases was designated as embryonal sarcoma of adult and pediatric kidneys at the 1995 meeting of the United States and Canadian Academy of Pathology.…”

Section: Discussionmentioning

confidence: 93%

“…Delahunt et al (1) proposed CESK as a new nosologic entity in 1998 for a tumor in a 19-year-old Caucasian male who was injured playing rugby (1). CT scans showed a large, well-defined, heterogeneous mass in the right kidney.…”

Section: Discussionmentioning

confidence: 99%