Han J.A. Mensink

Guidelines on Renal Cell Cancer

Objectives: On behalf of the European Association of Urology (EAU), Guidelines for Diagnosis, Therapy and Follow–Up of Renal Cell Carcinoma Patients were established. Criteria for recommendations were evidence based and included aspects of cost–effectiveness and clinical feasibility. Method: A systematic literature research using Medline Services was conducted. References were weighted by a panel of experts on renal cell carcinoma (RCC). Results: RCC is characterised by a constant rise in incidence over the last 50 years, with a predominance of men over women and an incidence peak in the 6th and 7th decade. There is no risk factor established and the current TNM system (UICC, 1997) is endorsed for staging purposes. Clinical signs and symptoms of RCC are becoming less frequent, incidental discovery constitutes already a majority of cases. Diagnosis is established by ultrasound and abdominal CT, extension assessment in routine cases is done by chest X–ray. Additional examinations may be required in select cases. The therapy of choice in organ–confined RCC is surgery. Radical tumour nephrectomy is considered as a standard. Efficacy and side–effects of organ–sparing surgery, lymphadenectomy and inclusion/omission of ipsilateral adrenalectomy in selected cases is a matter of ongoing clinical research. In metastatic cases, tumour nephrectomy should only be considered in the context of modern systemic immunotherapy. A follow–up at regular intervals is recommended because certain cases of recurrences may be candidates for surgery and/or immunomodulating therapy. Conclusion: A rise in incidence, improved diagnostic procedures, and evolving multimodality therapeutic concepts justify the need for rational guidelines on this most challenging urologic malignancy.

Cytogenetics of 12 cases of renal adenocarcinoma.

The cytogenetics of 12 cases of renal adenocarcinoma are presented. Clonal abnormalities were found in nine patients. Worth mentioning are abnormalities of the X chromosome (1 X) and the chromosomes #1(3 X), #3(3 X), #7(4 X), #8(4 X), and #14(2 X). From our data and data from the literature it appeared that the chromosomal regions 3p11-p21, 1q21, 14q22, and Xp11 are important for the oncogenesis of renal cell carcinoma as well as increased dosage of chromosome #7 and loss or abnormalities of chromosomes #8 and #14.

Chromosomal changes in renal oncocytomas Evidence that t(5;11)(q35;q13) may characterize a second subgroup of oncocytomas

Many of the reported oncocytomas have different chromosome abnormalities, indicating that they comprise a cytogenetically heterogenous group of tumors consisting of potentially cytogenetic subgroups. We have performed cytogenetic studies on nine renal oncocytomas. Clonal abnormalities were present in eight tumors. The findings most observed were the loss of the Y chromosome, and abnormalities of chromosomes 1 and 22. We also observed telomeric associations (tas) in two tumors and structural aberrations of chromosomes 9p and 19q, as well as monosomy 10. In two cases we found a similar reciprocal t(5;11)(q35;q13) in two cases. Review of the literature disclosed one other oncocytoma with a t(5;11) (q35;q13). This suggests that t(5;11)(q35;q13) defines a (second) subset of oncocytomas apart from the subgroup specifically associated with the loss of chromosomes 1 and Y.

Increase in Incidental Renal Cell Carcinoma in the Northern Part of the Netherlands

Objectives: Evaluating in a retrospective survey the incidence of incidental and symptomatic renal cell carcinoma (RCC) between 1977 and 1994 in the northern part of the Netherlands and the mode of their detection. Patients and Methods: Retrospectively, 173 patients surgically treated for RCC were divided into two groups according to the period of detection, 1977–1987 (n = 87) and 1987–1994 (n = 86). Because of the increase in abdominal ultrasound in 1987, this year was used as the cutoff date. In both periods the patients were grouped according to whether the tumor was found incidentally or whether the tumor was suspected. The mode of detection was recorded together with the tumor stage at presentation and survival. Results: The incidental detection rate was 33% (29/87) in the 1977–1987 group and 49% (42/86) in the 1987–1994 group, showing a significant difference (p = 0.038). In the 1977–1987 group incidental tumors were detected with ultrasound in 83% and symptomatic tumors with ultrasound in 36%. Of the cases in the 1987–1994 group this percentage was 91 and 43%, respectively. Disease–free survival rates after a mean follow–up of 10 years were 63% in the incidental RCC group and 37% in the symptomatic RCC group (p = 0.0159). Conclusions: There is an increase in incidental tumors in this part of the Netherlands with ultrasound as the mode of detection. The disease–free survival is significantly better in the incidental tumor group.

Carcinoid in a horseshoe kidney - Morphology, immunohistochemistry, and cytogenetics

Renal carcinoids are very rare neoplasms. We were able to culture and subsequently karyotype a carcinoid located in the isthmus of a horseshoe kidney, which revealed the following chromosomal pattern: 47,XX, + 13[8]/46,XX,t(13;14)(q31;q11.2)[5]/46,XX[2]. The DNA index was 1. Our results, compared with the sparse data from the literature, suggest that carcinoid of the kidney has no cytogenetic aberrations in common with carcinoids from other anatomical sites reported. On the other hand, numerical and structural aberrations of chromosome 13 seem to play a crucial role in the development of metanephric-derived renal tumors.

Original articleCarcinoid in a horseshoe kidney: Morphology, immunohistochemistry, and cytogenetics

Renal carcinoids are very rare neoplasms. We were able to culture and subsequently karyotype a carcinoid located in the isthmus of a horseshoe kidney, which revealed the following chromosomal pattern: 47,XX, + 13[8]/46,XX,t(13;14)(q31;q11.2)[5]/46,XX[2]. The DNA index was 1. Our results, compared with the sparse data from the literature, suggest that carcinoid of the kidney has no cytogenetic aberrations in common with carcinoids from other anatomical sites reported. On the other hand, numerical and structural aberrations of chromosome 13 seem to play a crucial role in the development of metanephric-derived renal tumors.

GENETIC ANALYSIS OF 2 CASES OF CLEAR CELL RENAL CANCER IN 2 SISTERS

Two sisters affected with renal cell carcinoma (RCC) is an extremely rare finding, and may indicate a hereditary pattern or the presence of other predisposing factors. We describe here 2 sisters presenting with clear cell renal cell cancer. Examination for von Hippel‐Lindau (VHL)‐related features and tuberous sclerosis (M. Bourneville) was negative and both had a normal constitutional karyotype. Cytogenetic analysis of the tumor tissue of both patients showed a translocation involving chromosomes 3 and 5, resulting in loss of 3p sequences and gain of part of 5q. The 5q breakpoints were similar, but the breakpoints at 3p appeared to differ. Allelic imbalance analysis supported our observations. Microsatellite analysis revealed that both sisters inherited different chromosome 3 parental alleles. For chromosome 5, 3 different haplotypes could be deduced, but the chromosome 5 alleles overrepresented in the different tumor tissues were from different parental origin. The development of the 2 RCCs in these 2 sisters thus cannot be explained by the inheritance of a mutated VHL gene located at 3p25, nor by the inheritance of other gene defects at chromosomes 3p or 5q. Although the chance that 2 sisters develop sporadic RCC is very low, in the presented case it is probably coincidental or related to another genetic predisposition. Int. J. Cancer 77:494–497, 1998.

Cytogenetic analysis of a leiomyosarcoma of the kidney

Nonepithelial malignant renal tumors are very rare, comprising approximately 2-3% of all malignant renal tumors. We were able to culture and subsequently karyotype a leiomyosarcoma (LMS) of the kidney that showed the following representative karyotype: 84,XY,add(X)(q25),-Y,add(1)(p11),dic(1;20) (p34;q13.3),-5,-6,dup(6)(q24),i(7)(p10),add(8)(p11),-9,-11,add(13)(p11), -15,-15 , add(17)(q24)x2,-18,-19,-21,-22,-22, +mar1(?hsr),+mar2,+2mar. A clonal add(1)(q11) was also evident. The DNA index was 1.9. Our results as compared with data from the literature suggest that LMS of the kidney has most cytogenetic aberrations reported to be characteristic of LMS, especially those located in the abdomen, and that different genetic mechanisms of initiation and progression appear to play a role in LMS of similar histology but from different anatomic sites.