Collecting duct carcinoma

2021-10-29   Paola Dal Cin , Michelle S. Hirsch 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.Department of Pathology, Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)

Classification

Definition

Collecting duct carcinoma (CDC) is a rare and aggressive renal epithelial neoplasm arising from the distal part of the collecting ducts (of Bellini) in the renal medulla.   Even nowadays, the diagnosis of CDC remains a diagnosis of exclusion.

Clinics and Pathology

Epidemiology

More likely to occur in middle to old age population, more common in males and in black than in white patients, both with a 2:1 ratio.

Clinical features

Patient may present with abdominal pain, gross hematuria, weight loss and a flank mass.

Macroscopic apperances

Well-defined or ill-defined mass in the renal medulla involving renal sinus, with frequent extension into the renal pelvis.

Histopathology

Prominent interstitial growth pattern with preserved glomeruli and renal tubules with several solid sheets/cords/nests, tubulopapillary and infiltrating glandular pattern with small-sized or medium-sized elongated tubules infiltrating in a desmoplastic stroma 1

Immunohistochemistry

SMARCB1(INI1) expression is retained; FH expression is retained, and OCT3/4 expression is completely negative.

Genetics

Cytogenetics

Various chromosomal and genomic alterations have been reported with inconsistent results. DNA losses are frequent, e.g., 1q, 6p, 8p, 9p and 21q as well as loss of Y 2,3.

Mutations

Several genomic alterations were detected, being NF2 (29%), SETD2 (24%), SMARCB1 (18%), and CDKN2A (12%) the most common, suggesting a potential role for mTOR inhibitors in patients with NF2 alterations 3.

Note

So far, there is no characteristic molecular genetic feature, or combination of features, useful for a definitive diagnosis. Molecular genetic testings should be considered after excluding other entities in the differential diagnosis (i.e., FH-deficient RCC, renal medullary carcinoma, papillary RCC) 4,5,6.

Cytogenetics

Prognosis and treatment

Of all renal cancers, CDC has the worst prognosis. Response to chemotherapy in CDC patients is modest to poor and overall survival is often less than 1 year.

Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1293093002018Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.Ohe C et al
2241676002013Collecting duct carcinomas represent a unique tumor entity based on genetic alterations.Becker F et al
3261496682016Characterization of Clinical Cases of Collecting Duct Carcinoma of the Kidney Assessed by Comprehensive Genomic Profiling.Pal SK et al
4281819502017Clinicopathologic and Molecular Pathology of Collecting Duct Carcinoma and Related Renal Cell Carcinomas.Seo AN et al
5319058212019Molecular Genetics of Renal Cell Tumors: A Practical Diagnostic Approach.Alaghehbandan R et al
6322510072020Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: III: Molecular Pathology of Kidney Cancer.Williamson SR et al

External Links

Citation

Paola Dal Cin ; Michelle S. Hirsch

Collecting duct carcinoma

Atlas Genet Cytogenet Oncol Haematol. 2021-10-29

Online version: http://atlasgeneticsoncology.org/solid-tumor/208921/collecting-duct-carcinoma