Collecting duct carcinoma

From Compendium of Cancer Genome Aberrations
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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).

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%

MLL

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.