Collecting duct carcinoma
Contributors
Daynna Wolff PhD FACMG Yajuan Liu, PhD Rajyasree Emmadi, MD Banumathy Gowrishankar, PhD Jane Houldsworth, PhD
Tumor Type
Renal Cell Carcinoma
Tumor Classification
Collecting Duct Carcinoma
Description
Collecting Duct Carcinoma is a rare tumor in renal medulla from the distal collecting (Bellini's) ducts and accounts for ~1% of renal epithelial tumors (Diaz JI, Mora LB, Hakam A. The Mainz Classification of Renal Cell Tumors. Cancer Control. 1999 Nov;6(6):571-579). These tumors have been associated with an aggressive course and a poor prognosis; they often present with metastases at the time of diagnosis. The mean age of patients seems to be younger than that of patients with other renal tumors, although given the rarity of the tumor, this has been debated. The disease is more common in males than females and hs been reported to occur more frequently in African Americans.
IHC Markers
Positive: vimentin, CK7, CA-IX, E-cadherin, EMA, PAX8, PAX2, CD117, CD10.
Negative: RCC, AMACR, CD117, CD10, PAX2.
Genomic Gain/Loss/LOH
| Chromosome | Gain/Loss/Amp | Region |
|---|---|---|
| 1 | Loss | Chr1 |
| 6 | Loss | Chr6 |
| 8 | Loss | 8p |
| 13 | Loss | 13q |
| 14 | Loss | 14q |
| 15 | Loss | 15q |
| 22 | Loss | Chr22 |
Rearrangements
Unknown
Mutations (SNV/INDEL)
From Cosmic Mutated in >20%
Mutated in 10-20%
Mutated in 5-10%
Mutated in 2-5%
mtDNA
Epigenomics (methylation)
Main Pathways Involved
Oncogenic signalling pathway
Diagnosis
Prognosis
Therapeutics
Familial Forms
Links
References
1. Crotty TB, Lawrence KM, Moertel CA, Bartelt DH Jr, Batts KP, Dewald GW, Farrow GM, Jenkins RB. Cytogenetic analysis of six renal oncocytomas and a chromophobe cell renal carcinoma. Evidence that -Y, -1 may be a characteristic anomaly in renal oncocytomas. Cancer Genet Cytogenet. 1992 Jul 1;61(1):61-6.
2. Antonelli A, Portesi E, Cozzoli A, Zanotelli T, Tardanico R, Balzarini P, Grigolato PG, Cosciani Cunico S. The collecting duct carcinoma of the kidney: a cytogenetical study. Eur Urol. 2003 Jun;43(6):680-5.
3. Hum Pathol. 2008 Sep;39(9):1350-9. doi: 10.1016/j.humpath.2007.11.020. Epub 2008 Jul 7. Collecting duct carcinoma of the kidney: an immunohistochemical evaluation of the use of antibodies for differential diagnosis. Kobayashi N1, Matsuzaki O, Shirai S, Aoki I, Yao M, Nagashima Y. DOI: 10.1016/ j.humpath.2007.11.020
4. Characterization of Clinical Cases of Collecting Duct Carcinoma of the Kidney Assessed by Comprehensive Genomic Profiling.
Pal SK, Choueiri TK, Wang K, Khaira D, Karam JA, Van Allen E, Palma NA, Stein MN, Johnson A, Squillace R, Elvin JA, Chmielecki J, Yelensky R, Yakirevich E, Lipson D, Lin DI, Miller VA, Stephens PJ, Ali SM, Ross JS. Eur Urol. 2016 Sep;70(3):516-21. doi: 10.1016/j.eururo.2015.06.019. Epub 2015 Jul 3. PMID: 26149668