Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Renal Medullary Carcinoma

  • Anna Caliò
  • Diego Segala
  • Guido MartignoniEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_4924-1

Definition

A highly aggressive carcinoma centered on the renal medulla associated with sickle cell and related hemoglobinopathies (Davis et al. 1995).

Clinical Features

  • Incidence

    Renal medullary carcinoma is a very uncommon tumor.

  • Age

    There is a predilection for young adults.

  • Sex

    There is a remarkable male predominance.

  • Site

    By definition, it is centered on the renal medulla.

  • Treatment

    Radical nephrectomy is the standard treatment.

  • Outcome

    Renal medullary carcinoma is an aggressive tumor. All patients are symptomatic at diagnosis with flank or abdominal pain and gross hematuria, with metastatic disease at the time of diagnosis.

Macroscopy

These tumors are poorly circumscribed medulla-centered and variable in size.

Microscopy

Architecturally, the most common patterns are reticular and cribriform glands; however many other patterns have been seen. The stroma present in the neoplasia is fibrotic/desmoplastic with intratumoral neutrophil predominant inflammatory infiltrates. Intracytoplasmic mucin production is common. Cytologic atypia is usually high grade (Fig. 1a). Renal cell carcinomas with morphology and immunophenotype of renal medullary carcinoma but not proven hemoglobinopathy should be referred as renal cell carcinoma unclassified with medullary phenotype.
Fig. 1

High-grade infiltrating renal cell carcinoma (a) with loss of INI1 by immunohistochemistry (b)

Immunophenotype

Tumors are consistently positive for PAX8 and CK7. Loss of INI1 (Fig. 1b) and acquisition of expression of OCT3/OCT4 are diagnostically helpful.

Molecular Features

Molecular studies have shown loss of heterozygosity or hemizygous deletions at the SMARCB1 (INI1) locus and the involvement of genes related to hypoxia-induced signaling pathways.

Differential Diagnosis

There are overlapping features with collecting duct carcinoma (which is characterized by absence of hemoglobinopathy and normal expression of INI1) and with urothelial carcinoma of the renal pelvis (which is associated with the presence of urothelial carcinoma in situ) (Amin et al. 2014; Sirohi et al. 2017; Ohe et al. 2018).

References and Further Reading

  1. Amin, M. B., Smith, S. C., Agaimy, A., et al. (2014). Collecting duct carcinoma versus renal medullary carcinoma: An appeal for nosologic and biological clarity. The American Journal of Surgical Pathology, 38, 871–874.CrossRefGoogle Scholar
  2. Davis, C. J., Jr., Mostofi, F. K., & Sesterhenn, I. A. (1995). Renal medullary carcinoma. The seventh sickle cell nephropathy. The American Journal of Surgical Pathology, 19, 1–11.CrossRefGoogle Scholar
  3. Ohe, C., Smith, S. C., Sirohi, D., et al. (2018). Reappraisal of morphologic differences between renal medullary carcinoma, collecting duct carcinoma, and fumarate hydratase-deficient renal cell carcinoma. The American Journal of Surgical Pathology, 42, 279–292.CrossRefGoogle Scholar
  4. Sirohi, D., Smith, S. C., Ohe, C., et al. (2017). Renal cell carcinoma, unclassified with medullary phenotype: Poorly differentiated adenocarcinomas overlapping with renal medullary carcinoma. Human Pathology, 67, 134–145.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Diagnostic and Public Health, Section of PathologyUniversity of VeronaVeronaItaly
  2. 2.Department of PathologyPederzoli HospitalPeschiera del GardaItaly