Interphase cytogenetic analysis with centromeric probes for chromosomes 1, 2, 6, 10, and 17 in 11 tumors from a patient with bilateral renal oncocytosis

Cossu-Rocca, Paolo; Eble, John N.; Zhang, Shaobo; Bonsib, Stephen M.; Martignoni, Guido; Brunelli, Matteo; Liu, Cheng

doi:10.1038/modpathol.2008.16

Cited by 25 publications

(20 citation statements)

References 21 publications

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“…All 11 tumors showed no loss of chromosomes 1, 2, 6, 10, or 17, a pattern identical to that found in normal control tissues. These findings suggested that tumors of renal oncocytosis were not related to chromophobe renal cell carcinoma or oncocytoma [111].…”

Section: Major Differential Diagnosismentioning

confidence: 90%

“…Hybrid renal neoplasms are extremely rare and contain tumor cells that display a mixture of both single and small groups of oncocytic cells and chromophobe cells [110,111]. Such tumors have also been described in patients presenting multiple renal oncocytomas associated with Birt-Hogg-Dubé syndrome [112].…”

Section: Major Differential Diagnosismentioning

confidence: 98%

“…An analysis [113] of cytogenetic patterns of multiple tumors in renal oncocytosis found loss of chromosomes 1p, 14q, and 21q in a hybrid tumor but did not find the same alterations in the adjacent chromophobe renal cell carcinoma. Cossu-Rocca et al [111] investigated 11 tumors arising from oncocytosis. FISH was performed with centromeric probes for chromosomes 1, 2, 6, 10, and 17 in each of the 11 tumors.…”

Section: Major Differential Diagnosismentioning

confidence: 99%

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Molecular and cytogenetic insights into the pathogenesis, classification, differential diagnosis, and prognosis of renal epithelial neoplasms

et al. 2009

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Section: Major Differential Diagnosismentioning

confidence: 90%

Section: Major Differential Diagnosismentioning

confidence: 98%

Section: Major Differential Diagnosismentioning

confidence: 99%

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Molecular and cytogenetic insights into the pathogenesis, classification, differential diagnosis, and prognosis of renal epithelial neoplasms

et al. 2009

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“…HOCT are defined as tumors having a mixture of cells with the morphological features of those seen in chromophobe renal cell carcinoma (CHRCC) and renal oncocytoma (RO). Most frequently, these tumors have been described in patients with BirtHogg-Dubé syndrome (BHD) [1][2][3] or in association with renal oncocytosis [4][5][6][7] without evidence of BHD. In the present study, we describe the clinicopathologic, immunohistochemical, genetic, and ultrastructural features of HOCT in a cohort of 14 patients without evidence of BHD or renal oncocytosis.…”

Section: Introductionmentioning

confidence: 99%

Sporadic hybrid oncocytic/chromophobe tumor of the kidney: a clinicopathologic, histomorphologic, immunohistochemical, ultrastructural, and molecular cytogenetic study of 14 cases

et al. 2010

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Hybrid oncocytic/chromophobe tumors (HOCT) of the kidney have been described in patients with Birt-Hogg-Dubé syndrome (BHD) and in association with renal oncocytosis without BHD. HOCT in patients without evidence of BHD or renal oncocytosis is exceedingly rare, and these cases have been poorly characterized. We have identified and studied 14 cases of HOCT from previously diagnosed renal oncocytomas (398 cases) and chromophobe renal cell carcinomas (351 cases) without evidence of BHD or renal oncocytosis. Immunohistochemical, ultrastructural, and molecular genetic studies analyzing numerical chromosomal changes, loss of heterozygosity for chromosome 3p, and mutation status of VHL, c-kit, PDGFR, and folliculin (FLCN) genes were performed. HOCTs were identified in nine men and five women (age range 40-79 years). The size of tumors ranged from 2 to 11 cm. All tumors displayed a solid alveolar architecture and were composed of cells with abundant granular eosinophilic oncocytic cytoplasm with perinuclear halos. Occasional binucleated neoplastic cells were present, but irregular, hyperchromatic, wrinkled (raisinoid) nuclei were absent. The cytoplasm contained numerous mitochondria of varying sizes, but only sparse microvesicles with amorphic lamellar content were found. Tumors were positive for CK7 (12/14), AE1-AE3 (14/14), anti-mitochondrial antigen (14/14), E-cadherin (11/13), parvalbumin (12/14), and epithelial membrane antigen (14/14). Tumors were generally negative for racemase, CK20, CD10, and carboanhydrase IX. Interphase fluorescence in situ hybridization revealed multiple chromosomal losses and gains with a median of four (range 1-9) chromosomal aberrations per case. Monosomy of chromosome 20 was common and found in 7 of 14 cases. Monosomy of chromosomes 6 and 9 was present in 4 of 14 cases each, of which two cases displayed monosomy for both chromosomes 6 and 9. Polysomy of chromosomes 10, 21, and 22 was found in 4/14 cases each, of which one case displayed polysomy for all these three chromosomes. No pathogenic mutations were found in the VHL, c-kit, PDGFR, and folliculin (FLCN) genes. (1) We have shown that hybrid oncocytic/chromophobe tumors of the kidney do occur, albeit rarely, outside the Birt-Hogg-Dubé syndrome and without associated renal oncocytosis. (2) These tumors constitute a relatively homogenous group with histomorphologic features of both chromophobe renal cell carcinoma and renal oncocytoma. (3) Sporadic hybrid oncocytic/chromophobe renal tumors are characterized by multiple numerical aberrations (both mono- and polysomies) of chromosomes 1, 2, 6, 9, 10, 13, 17, 21, and 22 and lack of mutations in the VHL, c-kit, PDGFRA, and FLCN genes. (4) The tumors seem to behave indolently as no evidence of malignant behavior was documented in our series, although admittedly, the follow-up was too short to fully elucidate the biological nature of this rare neoplasm. At worst, these tumors could have a low malignant potential, which only can be found out with longer follow-up.

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“…These hybrid tumours are described in the BirtHogg-Dubé syndrome when the typical folliculin mutation is present. Some authors regard these hybrid tumours as a transition step between the progressions from oncocytoma to chRCC [5], but cytogenetical analysis of chromosome patterns does not support this hypothesis and argues for a single entity [6]. Also, the cytogenetic pattern of oncocytoma is heterogeneous, and although not well characterised, it is different from those of chRCC [7].…”

Section: Introductionmentioning

confidence: 86%

Akt signalling parameters are different in oncocytomas compared to renal cell carcinoma

et al. 2011

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Interphase cytogenetic analysis with centromeric probes for chromosomes 1, 2, 6, 10, and 17 in 11 tumors from a patient with bilateral renal oncocytosis

Cited by 25 publications

References 21 publications

Molecular and cytogenetic insights into the pathogenesis, classification, differential diagnosis, and prognosis of renal epithelial neoplasms

Molecular and cytogenetic insights into the pathogenesis, classification, differential diagnosis, and prognosis of renal epithelial neoplasms

Sporadic hybrid oncocytic/chromophobe tumor of the kidney: a clinicopathologic, histomorphologic, immunohistochemical, ultrastructural, and molecular cytogenetic study of 14 cases

Akt signalling parameters are different in oncocytomas compared to renal cell carcinoma

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