Cytogenetic classification of renal cell cancer

Berg, Eva van den; Dijkhuizen, Trijnie; Oosterhuis, J. Wolter; Kessel, Ad Geurts van; Jong, Bauke M. de; Störkel, Stephan

doi:10.1016/s0165-4608(96)00289-0

Cited by 57 publications

(24 citation statements)

References 48 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Earlier, van der Berg proposed that a subset of oncocytomas with loss of chromosome 1 may be related to chromophobe RCCs since the latter also show loss of chromosome 1 (as well as multiple additional monosomies of 1, 2, 6, 10, 13, 17, 21 and X or Y) [20]. Our studies support this concept.…”

Section: Oncocytoma-chromophobe Renal Cell Carcinomasupporting

confidence: 84%

The Evolving Concept of Renal Neoplasia: Impact of Emerging Molecular and Electron Microscopic Studies

Picken

2005

Ultrastructural Pathology

View full text Add to dashboard Cite

The classification of renal tumors has evolved from one that initially encompassed only 2 types of tumors, i.e., clear and granular cell carcinomas, to the markedly expanded recent classification that incorporates new entities, some of which are primarily defined by specific molecular abnormalities. Despite these advances, a single tumor category, clear cell carcinoma, still incorporates the majority (approximately 70%) of renal tumors. It is, however, postulated that this single category is likely to encompass several different tumor types that are, at present, undifferentiated. Electron microscopic studies have been pivotal in defining the spectrum of oncocytoma-chromophobe renal cell carcinoma. Cytoplasmic eosinophilia found in some renal cell carcinomas currently classified as clear cell type is under intense study. Tumors that have recently emerged from this group include tumors with translocations involving chromosome Xp11.2, carcinomas associated with neuroblastoma and epithelioid angiomyolipoma. The spectrum of renal tumors seen in younger patients is wider than among older patients, with rare and unusual tumors being more likely seen in younger patients. The author concludes that although the routine application of electron microscopy to kidney tumor diagnosis may not be practical, systematic ultrastructural studies of these tumors may aid in the definition of new entities.

show abstract

Section: Oncocytoma-chromophobe Renal Cell Carcinomasupporting

confidence: 84%

The Evolving Concept of Renal Neoplasia: Impact of Emerging Molecular and Electron Microscopic Studies

Picken

2005

Ultrastructural Pathology

View full text Add to dashboard Cite

show abstract

“…Loss of 3p sequences is specific for clear-cell RCC, and chromophilic or papillary tumors do not usually show this aberration (Kovacs, 1993a;Van den Berg et al, 1993, 1997. In the present case, 2 copies of a der(3)t(3;8)(q10;q10) were found, resulting in loss of the short arm of chromosome 3.…”

Section: Discussionmentioning

confidence: 45%

“…Renal-cell cancer comprises a heterogeneous group of tumors, the sub-types of which each have a distinct genetic constitution (Kovacs, 1993a;Störkel and Van den Berg, 1995;Van den Berg et al, 1997). Sarcomatoid transformation can occur in most of the sub-types and represents a final stage of de-differentiation.…”

Section: Discussionmentioning

confidence: 99%

“…Although the development of chromophilic or papillary RCC is associated with alterations distinct from those associated with the development of clear-cell tumors, a substantial number of secondary changes, mostly related to tumor progression, are similar in both sub-types (Schwerdtle et al, 1996;Wilhelm et al, 1995;Kovacs et al, 1991;Anglard et al, 1991;Presti et al, 1991;Moch et al, 1996;Van den Berg et al, 1997;Kovacs, 1993a;ThrashBingham et al, 1995). Common changes are loss of 6q, 9, 11, 14q and 17p and gain of chromosomes 12 and 20.…”

Section: Discussionmentioning

confidence: 99%

“…Evidence is accumulating that each of the different sub-types has a distinct somatic-genetic constitution (Störkel and Van den Berg, 1995;Van den Berg et al, 1997). Clear-cell carcinoma is characterized by 3p deletions; chromophilic or papillary RCC shows a specific combination of autosomal trisomies, i.e., 13q, 17, 112, 116, 117 and 120.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Genetics as a diagnostic tool in sarcomatoid renal-cell cancer

Dijkhuizen

Vandenberg

Berg³

et al. 1997

Int. J. Cancer

Self Cite

View full text Add to dashboard Cite

Renal-cell cancer comprises a heterogeneous group of tumors, which currently can be sub-divided into morphologically distinct entities, each characterized by a specific combination of genetic changes. Sarcomatoid transformation might occur in any of the sub-types, resulting in tumors consisting of both carcinomatous and sarcomatous components. The specific diagnosis of these neoplasms, as to tumor sub-type, is usually made on the histologic properties of the carcinomatous tissue present. However, this might not reflect the true nature of the sarcomatous component. Since the genetic changes associated with the development of the different sub-types of renal-cell cancer are well established, this knowledge might serve as a tool in diagnosing sarcomatoid tumors. Assessing the genetic constitution of the latter may lead to correct diagnosis. It may also provide valuable information about the genetic changes associated with sarcomatoid transformation. Hence we performed a genetic characterization of a case of sarcomatoid renal-cell cancer, histologically diagnosed as being of the chromophilic type. The observed genetic changes included loss of 3p, 6q, 8p, 9, 13, 14 and 17p, and gain of 5, 12 and 20, as well as a mutation in the coding region of the p53 gene. This combination of genetic changes points to clear-cell rather than chromophilic origin of the sarcomatoid tumor investigated, indicating that the genetic constitution of sarcomatoid tumors may be a more reliable indicator of tumor sub-type than histologic appearance.

show abstract

Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome

et al. 1998

View full text Add to dashboard Cite

Klinefelter syndrome (KS) is a sex chromosome abnormality occurring in 1 in 1,000 males. An association with leukemia, germ cell tumor, and male breast cancer has been suggested in KS. Such information is important for professionals caring for KS patients as the condition is frequently not clinically recognizable until after puberty. We report on a renal cell carcinoma (RCC) in a 10-year-old boy with KS. He developed intermittent hematuria at age 10 years and was diagnosed with a right kidney mass, which on pathology was identified as RCC. In addition, he was known to have learning disabilities and language delays. Analysis of peripheral blood chromosomes showed a 47,XXY karyotype while analysis of tumor cells demonstrated clonal abnormalities including a translocation between chromosomes X and 1, designated 47,XXYc,t(X;1)(p11.2;q21)[6]/47,XXYc,t(X;1),r(Xp)[2]/46,X XYc,-X,t(X;1)[7]. Renal cell carcinoma is rare in childhood and is not previously reported in KS. The oncogenetic significance of the chromosomal regions involved in this translocation is discussed in relation to the congenital abnormality of the patient.

show abstract

Cytogenetic classification of renal cell cancer

Cited by 57 publications

References 48 publications

The Evolving Concept of Renal Neoplasia: Impact of Emerging Molecular and Electron Microscopic Studies

The Evolving Concept of Renal Neoplasia: Impact of Emerging Molecular and Electron Microscopic Studies

Genetics as a diagnostic tool in sarcomatoid renal-cell cancer

Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome

Contact Info

Product

Resources

About