A cytogenetic approach to the differential diagnosis of metastatic clear cell renal carcinoma

Amo-Takyi, B.; Handt, Stefan; Gunawan, Bastian; Hollweg, H. G.; Mittermayer, Ch.; Füzesi, L.

doi:10.1016/s0753-3322(98)80105-4

Cited by 3 publications

(6 citation statements)

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“…In recent times, a few case reports have appeared in the literature describing the rarity of presentation and the need for a high index of suspicion in evaluating a patient presenting with a skin tumor [1][2][3][4][5]]. Recently, Kouroupakis et al [6] have suggested that such patients usually present with synchronous skin metastasis rather than metachronous metastasis.…”

Section: Introductionmentioning

confidence: 99%

Cutaneous Metastases in Renal Cell Carcinoma

Dorairajan¹,

Hemal²,

Aron³

et al. 1999

Urol Int

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Cutaneous metastasis from renal cell carcinoma is believed to be rare. We present our experience with 10 (3.3%) cases seen in the last 12 years among 306 cases of renal adenocarcinoma treated at our center. There were 9 males and 1 female. Age ranged from 30 to 65 years (average 45 years). 5 patients had skin metastases at the time of presentation (stage IV). In one of them the skin nodule, rather than urologic symptoms, was the presenting complaint. 5 patients presented with skin metastasis during follow-up after nephrectomy. The average time to skin metastasis was 51 months for patients in stage I and 13 months in stage IIIb. The scalp was the most common site of metastasis followed by chest and abdomen. 90% of patients had secondaries in at least one other site, most commonly in lungs (4 cases) and bones (5 cases). 4 patients were treated with interferon-α 6 MIU, subcutaneously, three times a week for varying periods from 3 to 4 months but there was no response. In conclusion, cutaneous secondaries from RCC, though uncommon, are not very rare. A few patients may present with a skin mass before detection of the renal tumor. Patients with low-stage disease at presentation may also develop cutaneous secondaries, therefore a prolonged follow-up is required. The commonest site for cutaneous metastasis from RCC is the scalp and face. Most patients had at least one other site of systemic metastasis, hence they were not candidates for curative therapy. Interferon therapy was not helpful. Mean survival after detection of cutaneous metastasis was 7 months.

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Section: Introductionmentioning

confidence: 99%

Cutaneous Metastases in Renal Cell Carcinoma

Dorairajan¹,

Hemal²,

Aron³

et al. 1999

Urol Int

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“…10 Some genetic studies show multiple alterations on both arms and/or gain of a whole copy of chromosome 1 in MCC. [18][19][20][21][22][23][24] Others demonstrate trisomy 6, 20,25,26 partial or complete trisomy 11,22,27 gains of 18q, 20 monosomy 13 21 and deletion of 7q 26 in the tumour; the most frequent aberrations being trisomies 1 and 11. However, with the exception of two cases, 20,25 few targeted chromosomal analyses have been performed to validate the genetic changes.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic relevance of chromosomal in‐situ hybridization in Merkel cell carcinoma: targeted interphase cytogenetic tumour analyses

et al. 1999

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“…CISH was performed on paraffin sections of each tumour focus and surrounding normal renal tissues as described previously (Amo-Takyi et al, 1998), using the three chromosomes mentioned. Briefly, the 5-to 6-µm thin paraffin-embedded sections were mounted on sialinized slides and incubated at 60°C for 2 h. The sections were dewaxed in two changes of xylene, followed by two treatments in 100% ethanol immediately after the incubation.…”

Section: Cishmentioning

confidence: 99%

“…Hence, although monosomy 3 is characteristic of conventional RCCs (Kovács and Frisch, 1989;Amo-Takyi et al, 1998) heedless of size, its cytogenetical diagnostic value is limited, and can only be found in advanced-and/or high-grade tumours. Three conventional RCCs had trisomy 7 and disomy 17 and the rest were disomic for both chromosomes 7 and 17; however, the latter also showed various cell subpopulations with three or four copies of either chromosomes.…”

Section: Chromosomal Aberrations: Multicentric Conventional Rccsmentioning

confidence: 99%

“…Conventional renal cell carcinomas (RCCs) reveal in more than 90% of cases loss of heterozygosity on 3p or monosomy 3 as the primary aberration (Kovács and Frisch, 1989;Meloni et al, 1992; Van den Berg et al, 1993;Amo-Takyi et al, 1998;Koolen et al, 1998). On the other hand, classical cytogenetics of multicentric papillary RCTs, whether adenomas or carcinomas, displayed common primary chromosomal aberrations in different foci, namely trisomy 17 and tri-or tetrasomy 7 (Kovács et al, 1991;Henn et al, 1993).…”

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Interphase cytogenetics of multicentric renal cell tumours confirm associations of specific aberrations with defined cytomorphologies

et al. 2000

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Summary To demonstrate associations of certain chromosomal aberrations with defined renal cell tumour (RCT) subtypes, we analysed 239 tumour nephrectomy cases for specimens with multicentric tumours. Chromosomal in situ hybridization was then performed on 15 cases with 34 foci (16 conventional renal cell carcinomas (RCCs), and 18 papillary RCTs (11 carcinomas and seven adenomas) for specific chromosomal aberrations, using α-satellite probes for chromosomes 3, 7 or 17. Particular preference was given to cases which had separate foci with different cytomorphologies. Furthermore, we compared aberrations in relation to tumour size, stage, grade and between different foci in a specimen. Thirty-four cases had multiple tumours. Forty-seven per cent of the multicentric tumours were conventional RCCs and 53% papillary RCTs (against 83% solitary conventional RCCs and 5% solitary papillary RCTs). Three conventional RCCs sized 8 mm (G3), 13 cm (pT2, G2) and 15 cm (pT3b, G3), respectively, revealed monosomy 3, and 13 were disomic. Seventeen papillary RCTs (11 carcinomas and six adenomas) displayed trisomy 17, irrespective of size or grade. Four papillary carcinomas and six papillary adenomas had trisomy 7, and the rest (seven papillary carcinomas and one papillary adenoma) revealed disomy 7. In conclusion, papillary RCTs were tendentially multicentric. Although specific for conventional RCCs heedless of size, monosomy 3 was only observed in high-grade and/or advanced tumours. Trisomy 17 was only detectable in papillary RCTs irrespective of tumour state, showing increased copies with tumour growth. Papillary RCTs also appeared to lose some copies of chromosome 7 with tumour progress, possibly reflecting malignancy.

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A cytogenetic approach to the differential diagnosis of metastatic clear cell renal carcinoma

Cited by 3 publications

References 0 publications

Cutaneous Metastases in Renal Cell Carcinoma

Cutaneous Metastases in Renal Cell Carcinoma

Diagnostic relevance of chromosomal in‐situ hybridization in Merkel cell carcinoma: targeted interphase cytogenetic tumour analyses

Interphase cytogenetics of multicentric renal cell tumours confirm associations of specific aberrations with defined cytomorphologies

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