Renal oncocytoma pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Homa Najafi, M.D.[2] Shanshan Cen, M.D. [3]
Overview
The exact pathogenesis of renal oncocytoma is not completely understood. Although some mechanisms are suggested in the pathogenesis of this disease that include, lossing of chromosome 1 and dysfunction of mitochondrial enzymes which is caused by alterations in the mitochondrial DNA. DNA diploidy is seen in 96% of patients with renal oncocytomas. The development of renal oncocytoma is the result of multiple genetic mutations such as deletion of chromosome 1, deletion of the sex chromosome, translocation of chromosome 11q13, sporadic or no chromosomal alteration. Renal oncocytoma can be associated with familial renal oncocytoma or Birt-Hogg-Dube syndrome. On gross pathology, tan to brown surface color , well-encapsulated with a thick, well-defined, fibrous capsule, central scar, and homogeneous appearance without any hemorrhage or necrosis inside it in the tumor cut are characteristic findings of renal oncocytoma. On microscopic histopathological analysis, renal oncocytoma characterized by "oncocytes". They are large, round to polygonal neoplastic cells accompanied by eosinophilic granular cytoplasm and are organized in nested or organoid pattern. Although, renal oncocytoma is benign, atypia, prominent nucleoli, and pleomorphism may seen in microscopic examination.
Pathophysiology
Pathogenesis
- The exact pathogenesis of renal oncocytoma is not completely understood.
- The mechanisms which are suggested in the pathogenesis of renal oncocytoma include:[1][2][3][4]
- Lossing of chromosome 1
- Dysfunction of mitochondrial enzymes which is caused by alterations in the mitochondrial DNA
Genetics
DNA diploidy is seen in 96% of patients with renal oncocytomas.[5][6][7]
The development of renal oncocytoma is the result of multiple genetic mutations such as:[8][9][10][1][2][11]
- Deletion of chromosome 1
- Deletion of the sex chromosome
- Translocation of chromosome 11q13
- Sporadic or no chromosomal alteration
Associated Conditions
Conditions associated with renal oncocytoma include:[12][13]
Note: Birt-Hogg-Dube syndrome is an autosomal dominant syndrome which is presented with different types of dermatologic diseases and renal epithelial tumors such as renal oncocytoma and RCCs.
Gross Pathology
On gross pathology, tan to brown surface color , well-encapsulated with a thick, well-defined, fibrous capsule, central scar, and homogeneous appearance without any hemorrhage or necrosis inside it in the tumor cut are characteristic findings of renal oncocytoma.[14][15][16][17][18][19]
Microscopic Pathology
On microscopic histopathological analysis, renal oncocytoma characterized by "oncocytes". They are large, round to polygonal neoplastic cells accompanied by eosinophilic granular cytoplasm and are organized in nested or organoid pattern. Although, renal oncocytoma is benign, atypia, prominent nucleoli, and pleomorphism may seen in microscopic examination.[20][21][22][23][24]
References
- ↑ 1.0 1.1 Thrash-Bingham, Catherine A.; Salazar, Hernando; Greenberg, Richard E.; Tartof, Kenneth D. (1996). "Loss of heterozygosity studies indicate that chromosome arm 1p harbors a tumor suppressor gene for renal oncocytomas". Genes, Chromosomes and Cancer. 16 (1): 64–67. doi:10.1002/(SICI)1098-2264(199605)16:1<64::AID-GCC9>3.0.CO;2-1. ISSN 1045-2257.
- ↑ 2.0 2.1 Dijkhuizen, T.; van den Berg, E.; Störkel, S.; de Vries, B.; van der Veen, A.Y.; Wilbrink, M.; Geurts van Kessel, A.; de Jong, B. (1997). "Renal oncocytoma with t(5;12;11), der(1)t(1;8) and add(19): "true" oncocytoma or chromophobe adenoma?". International Journal of Cancer. 73 (4): 521–524. doi:10.1002/(SICI)1097-0215(19971114)73:4<521::AID-IJC11>3.0.CO;2-C. ISSN 0020-7136.
- ↑ Neuhaus, Christine; Dijkhuizen, T.; van den Berg, E.; Störkel, S.; Stöckle, M.; Mensch, B.; Huber, C.; Decker, H.-J. (1997). "Involvement of the chromosomal region 11q13 in renal oncocytoma: Case report and literature review". Cancer Genetics and Cytogenetics. 94 (2): 95–98. doi:10.1016/S0165-4608(96)00205-1. ISSN 0165-4608.
- ↑ C. Welter, G. Kovacs, G. Seitz & N. Blin (1989). "Alteration of mitochondrial DNA in human oncocytomas". Genes, chromosomes & cancer. 1 (1): 79–82. PMID 2487148. Unknown parameter
|month=ignored (help) - ↑ M. R. Licht, A. C. Novick, R. R. Tubbs, E. A. Klein, H. S. Levin & S. B. Streem (1993). "Renal oncocytoma: clinical and biological correlates". The Journal of urology. 150 (5 Pt 1): 1380–1383. PMID 8411404. Unknown parameter
|month=ignored (help) - ↑ J. Hartwick, R. Warren; El-Naggar, Adel K.; Ro, Jae Y.; Srigley, John R.; Mclemore, Donia D.; Jones, Edward C.; Grignon, David J.; Thomas, M. Jane; Ayala, Alberto G. (1992). "Renal Oncocytoma and Granular Renal Cell Carcinoma: A Comparative Clinicopathologic and DNA Flow Cytometric Study". American Journal of Clinical Pathology. 98 (6): 587–593. doi:10.1093/ajcp/98.6.587. ISSN 1943-7722.
- ↑ L. Fuzesi, B. Gunawan, S. Braun, F. Bergmann, A. Brauers, P. Effert & C. Mittermayer (1998). "Cytogenetic analysis of 11 renal oncocytomas: further evidence of structural rearrangements of 11q13 as a characteristic chromosomal anomaly". Cancer genetics and cytogenetics. 107 (1): 1–6. PMID 9809026. Unknown parameter
|month=ignored (help) - ↑ L. Fuzesi, B. Gunawan, S. Braun, F. Bergmann, A. Brauers, P. Effert & C. Mittermayer (1998). "Cytogenetic analysis of 11 renal oncocytomas: further evidence of structural rearrangements of 11q13 as a characteristic chromosomal anomaly". Cancer genetics and cytogenetics. 107 (1): 1–6. PMID 9809026. Unknown parameter
|month=ignored (help) - ↑ Presti, Joseph C.; Moch, Holger; Reuter, Victor E.; Huynh, Danh; Waldman, Frederic M. (1996). "Comparative genomic hybridization for genetic analysis of renal oncocytomas". Genes, Chromosomes and Cancer. 17 (4): 199–204. doi:10.1002/(SICI)1098-2264(199612)17:4<199::AID-GCC1>3.0.CO;2-Z. ISSN 1045-2257.
- ↑ van den Berg, E.; Dijkhuizen, T.; Störkel, S.; Brutel de la Rivière, G.; Dam, A.; Mensink, H.J.A.; Oosterhuis, J.W.; de Jong, B. (1995). "Chromosomal changes in renal oncocytomas Evidence that t(5;11)(q35;q13) may characterize a second subgroup of oncocytomas". Cancer Genetics and Cytogenetics. 79 (2): 164–168. doi:10.1016/0165-4608(94)00142-X. ISSN 0165-4608.
- ↑ R. J. Sinke, T. Dijkhuizen, B. Janssen, D. Olde Weghuis, G. Merkx, E. van den Berg, E. Schuuring, A. M. Meloni, B. de Jong & A. Geurts van Kessel (1997). "Fine mapping of the human renal oncocytoma-associated translocation (5;11)(q35;q13) breakpoint". Cancer genetics and cytogenetics. 96 (2): 95–101. PMID 9216713. Unknown parameter
|month=ignored (help) - ↑ G. Weirich, G. Glenn, K. Junker, M. Merino, S. Storkel, I. Lubensky, P. Choyke, S. Pack, M. Amin, M. M. Walther, W. M. Linehan & B. Zbar (1998). "Familial renal oncocytoma: clinicopathological study of 5 families". The Journal of urology. 160 (2): 335–340. PMID 9679872. Unknown parameter
|month=ignored (help) - ↑ J. R. Toro, G. Glenn, P. Duray, T. Darling, G. Weirich, B. Zbar, M. Linehan & M. L. Turner (1999). "Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia". Archives of dermatology. 135 (10): 1195–1202. PMID 10522666. Unknown parameter
|month=ignored (help) - ↑ Moch, Holger; Cubilla, Antonio L.; Humphrey, Peter A.; Reuter, Victor E.; Ulbright, Thomas M. (2016). "The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs—Part A: Renal, Penile, and Testicular Tumours". European Urology. 70 (1): 93–105. doi:10.1016/j.eururo.2016.02.029. ISSN 0302-2838.
- ↑ Amin, Mahul B.; Crotty, Thomas B.; Tickoo, Satish K.; Farrow, George M. (1997). "Renal Oncocytoma: A Reappraisal of Morphologic Features with Clinicopathologic Findings in 80 Cases". The American Journal of Surgical Pathology. 21 (1): 1–12. doi:10.1097/00000478-199701000-00001. ISSN 0147-5185.
- ↑ Perez-Ordonez, Bayardo; Hamed, Ghiath; Campbell, Steve; Erlandson, Robert; Russo, Paul; Gaudin, Paul; Reuter, Victor (1997). American Journal of Surgical Pathology. 21 (8): 871–883. doi:10.1097/00000478-199708000-00001. ISSN 0147-5185. Missing or empty
|title=(help) - ↑ Trpkov, Kiril; Yilmaz, Asli; Uzer, Dina; Dishongh, Kristin M; Quick, Charles M; Bismar, Tarek A; Gokden, Neriman (2010). "Renal oncocytoma revisited: a clinicopathological study of 109 cases with emphasis on problematic diagnostic features". Histopathology. 57 (6): 893–906. doi:10.1111/j.1365-2559.2010.03726.x. ISSN 0309-0167.
- ↑ B. Perez-Ordonez, G. Hamed, S. Campbell, R. A. Erlandson, P. Russo, P. B. Gaudin & V. E. Reuter (1997). "Renal oncocytoma: a clinicopathologic study of 70 cases". The American journal of surgical pathology. 21 (8): 871–883. PMID 9255250. Unknown parameter
|month=ignored (help) - ↑ F. Bertoni, C. Ferri, P. Bacchini, G. Corrado, A. Benati, D. Mannini & F. Corrado (1989). "Oncocytoma and low-grade oncocytic carcinoma of the kidney". European urology. 16 (2): 101–109. PMID 2714326.
- ↑ B. Perez-Ordonez, G. Hamed, S. Campbell, R. A. Erlandson, P. Russo, P. B. Gaudin & V. E. Reuter (1997). "Renal oncocytoma: a clinicopathologic study of 70 cases". The American journal of surgical pathology. 21 (8): 871–883. PMID 9255250. Unknown parameter
|month=ignored (help) - ↑ Barnes, C. Allan; Beckman, Edwin N. (1983). "Renal Oncocytoma and Its Congeners". American Journal of Clinical Pathology. 79 (3): 312–318. doi:10.1093/ajcp/79.3.312. ISSN 1943-7722.
- ↑ H. Choi, U. A. Almagro, J. T. McManus, D. H. Norback & S. C. Jacobs (1983). "Renal oncocytoma. A clinicopathologic study". Cancer. 51 (10): 1887–1896. PMID 6831354. Unknown parameter
|month=ignored (help) - ↑ M. B. Amin, T. B. Crotty, S. K. Tickoo & G. M. Farrow (1997). "Renal oncocytoma: a reappraisal of morphologic features with clinicopathologic findings in 80 cases". The American journal of surgical pathology. 21 (1): 1–12. PMID 8990136. Unknown parameter
|month=ignored (help) - ↑ J. N. Eble & M. T. Hull (1984). "Morphologic features of renal oncocytoma: a light and electron microscopic study". Human pathology. 15 (11): 1054–1061. PMID 6490001. Unknown parameter
|month=ignored (help)