Tubulocystic renal cell 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

Tubulocystic (TC) renal cell carcinoma (RCC) is a distinct RCC subtype that has characteristic cystic architecture, eosinophilic cytology and large prominent nucleoli. An absence of solid growth (i.e., a mural nodule is required to make this diagnosis in its u2018pureu2019 form.  TC-RCC has been reported to occur in association with many subtypes of renal cell carcinoma, most frequently papillary RCC, but also fumarate hydratase (FH)-deficient RCC and occasionally collecting duct carcinoma.

Clinics and Pathology

Epidemiology

Rare, <1% especially as u2018pure TC-RCC

Clinical features

Mainly incidental finding, more commonly in men, often small size at presentation (mean 2 cm).

Macroscopic apperances

Well circumscribed and unencapsulated; frequently a multicystic gross appearance that has been compared with bubble wrap.

Histopathology

Composed of tightly packed tubules and cysts of varying size, lined by cuboidal cells containing abundant eosinophilic cytoplasm with large nuclei with prominent nucleoli.   Nuclear grade (i.e., Fuhrman, ISUP or WHO) is not assigned to this tumor type. The entity TC-RCC should be diagnosed only when present as a u201cpureu201d form, using well defined strict morphological criteria including an absence of any solid growth; the presence of papillary, poorly differentiated, or other architectural patterns exclude a tumor from diagnostic assignment of u2018pureu2019 TC-RCC.

Immunohistochemistry

FH is intact (i.e., positive) in u2019pureu2019 TC-RCC.

Genetics

Cytogenetics

Some initial cytogenetic approaches appear to give contradictory results, suggesting genetic genomic overlap between TC-RCC and PRCC because common gains in chromosomes 7 and 17 and loss of Y chromosome 1, or only trisomy 17 2,3.  However, recent studies have failed to confirm such relationship mainly for excluding any tumour tubulocystic and papillary morphology 3,4. Chromosome 9 loss (and Y, in male) and chromosome 17 gain were consistently identified across all u201cpureu201d TC-RCC by copy number analysis 5,6.

Mutations

No mutations characteristic of the other RCC types were found , but  a few mutational profiles were reported:  mutations in the ABL1 and PDGFRA genes  present in >60% of TC-RCC 7 and  mutations in chromatin modifying genes KMT2C and KDM5C, as well as other oncogenic mutations involving DNA repair and DNA damage response genes,  such as PMS2, RAD21 and TP53 8.

Cytogenetics

Prognosis and treatment

Rarely progresses, recurs, or metastasizes.

Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1198982252009Renal tubulocystic carcinoma is closely related to papillary renal cell carcinoma: implications for pathologic classification.Zhou M et al
2182233192008Tubulocystic carcinoma of the kidney: clinicopathologic and molecular characterization.Yang XJ et al
3264478942016Molecular Genetic Alterations in Renal Cell Carcinomas With Tubulocystic Pattern: Tubulocystic Renal Cell Carcinoma, Tubulocystic Renal Cell Carcinoma With Heterogenous Component and Familial Leiomyomatosis-associated Renal Cell Carcinoma. Clinicopathologic and Molecular Genetic Analysis of 15 Cases.Ulamec M et al
4263108872016Tubulocystic renal cell carcinoma is an entity that is immunohistochemically and genetically distinct from papillary renal cell carcinoma.Tran T et al
5223691802012Synchronous clear cell renal cell carcinoma and tubulocystic carcinoma: genetic evidence of independent ontogenesis and implications of chromosomal imbalances in tumor progression.Quiroga-Garza G et al
6303222862019Beyond Belsey: complex laparoscopic hiatus and diaphragmatic hernia repair.Zanotti D et al
7290565732018Noncoding RNA Expression and Targeted Next-Generation Sequencing Distinguish Tubulocystic Renal Cell Carcinoma (TC-RCC) from Other Renal Neoplasms.Lawrie CH et al
8306222862019Tubulocystic renal cell carcinoma: a distinct clinicopathologic entity with a characteristic genomic profile.Sarungbam J et al

External Links

Citation

Paola Dal Cin ; Michelle S. Hirsch

Tubulocystic renal cell carcinoma

Atlas Genet Cytogenet Oncol Haematol. 2021-10-29

Online version: http://atlasgeneticsoncology.org/solid-tumor/208922/tubulocystic-renal-cell-carcinoma