Renal cell carcinoma, unclassified with medullary phenotype

poorly differentiated adenocarcinomas overlapping with renal medullary carcinoma

Deepika Sirohi, Steven C. Smith, Chisato Ohe, Piergiuseppe Colombo, Mukul Divatia, Ema Dragoescu, Priya Rao, Michelle S. Hirsch, Ying Bei Chen, Rohit Mehra, Mahul Amin

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Renal medullary carcinoma (RMC) is a highly aggressive renal cell carcinoma arising in the collecting system and requiring careful correlation with status of sickle cell trait. A panel of international experts has recently proposed provisional diagnostic terminology, renal cell carcinoma, unclassified, with medullary phenotype, based on encountering an extraordinarily rare tumor with RMC morphology and immunophenotype in an individual proven not to have a hemoglobinopathy. Herein, we extend this observation to a cohort of 5 such tumors, morphologically similar to RMC, lacking SMARCB1 expression by immunohistochemistry, but each without evidence of a hemoglobinopathy. The tumors arose in 4 men and 1 woman with a mean age of 44 years, occurring in 3 left and 2 right kidneys. Clinically, aggression was apparent with involvement of perinephric adipose tissue in all 5 cases, nodal metastasis in 4 of 5 cases, and death of disease in 4 of 5 cases within 3-27 months. Histologic sections showed poorly differentiated adenocarcinoma, often with solid and nested growth patterns, as well as infiltrative glandular, tubulopapillary, cribriform, or reticular growth. Rhabdoid and sarcomatoid cytomorphology was seen in a subset. All tumors showed PAX8 nuclear positivity and SMARCB1 loss, with OCT3/4 expression in 4 of 5 cases. In summary, this first series of renal cell carcinoma, unclassified, with medullary phenotype documents tumors with morphologic, immunophenotypic, and prognostic features of RMC occurring in individuals without sickle cell trait. Although greater biologic and molecular understanding is needed, the available evidence points to these cases representing a sporadic counterpart to sickle cell trait–associated RMC.

Original languageEnglish (US)
Pages (from-to)134-145
Number of pages12
JournalHuman Pathology
Volume67
DOIs
StatePublished - Sep 1 2017

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Medullary Carcinoma
Renal Cell Carcinoma
Adenocarcinoma
Phenotype
Kidney
Sickle Cell Trait
Hemoglobinopathies
Neoplasms
Growth
Aggression
Terminology
Adipose Tissue
Immunohistochemistry
Neoplasm Metastasis

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Renal cell carcinoma, unclassified with medullary phenotype : poorly differentiated adenocarcinomas overlapping with renal medullary carcinoma. / Sirohi, Deepika; Smith, Steven C.; Ohe, Chisato; Colombo, Piergiuseppe; Divatia, Mukul; Dragoescu, Ema; Rao, Priya; Hirsch, Michelle S.; Chen, Ying Bei; Mehra, Rohit; Amin, Mahul.

In: Human Pathology, Vol. 67, 01.09.2017, p. 134-145.

Research output: Contribution to journalArticle

Sirohi, D, Smith, SC, Ohe, C, Colombo, P, Divatia, M, Dragoescu, E, Rao, P, Hirsch, MS, Chen, YB, Mehra, R & Amin, M 2017, 'Renal cell carcinoma, unclassified with medullary phenotype: poorly differentiated adenocarcinomas overlapping with renal medullary carcinoma', Human Pathology, vol. 67, pp. 134-145. https://doi.org/10.1016/j.humpath.2017.07.006
Sirohi, Deepika ; Smith, Steven C. ; Ohe, Chisato ; Colombo, Piergiuseppe ; Divatia, Mukul ; Dragoescu, Ema ; Rao, Priya ; Hirsch, Michelle S. ; Chen, Ying Bei ; Mehra, Rohit ; Amin, Mahul. / Renal cell carcinoma, unclassified with medullary phenotype : poorly differentiated adenocarcinomas overlapping with renal medullary carcinoma. In: Human Pathology. 2017 ; Vol. 67. pp. 134-145.
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AU - Ohe, Chisato

AU - Colombo, Piergiuseppe

AU - Divatia, Mukul

AU - Dragoescu, Ema

AU - Rao, Priya

AU - Hirsch, Michelle S.

AU - Chen, Ying Bei

AU - Mehra, Rohit

AU - Amin, Mahul

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AB - Renal medullary carcinoma (RMC) is a highly aggressive renal cell carcinoma arising in the collecting system and requiring careful correlation with status of sickle cell trait. A panel of international experts has recently proposed provisional diagnostic terminology, renal cell carcinoma, unclassified, with medullary phenotype, based on encountering an extraordinarily rare tumor with RMC morphology and immunophenotype in an individual proven not to have a hemoglobinopathy. Herein, we extend this observation to a cohort of 5 such tumors, morphologically similar to RMC, lacking SMARCB1 expression by immunohistochemistry, but each without evidence of a hemoglobinopathy. The tumors arose in 4 men and 1 woman with a mean age of 44 years, occurring in 3 left and 2 right kidneys. Clinically, aggression was apparent with involvement of perinephric adipose tissue in all 5 cases, nodal metastasis in 4 of 5 cases, and death of disease in 4 of 5 cases within 3-27 months. Histologic sections showed poorly differentiated adenocarcinoma, often with solid and nested growth patterns, as well as infiltrative glandular, tubulopapillary, cribriform, or reticular growth. Rhabdoid and sarcomatoid cytomorphology was seen in a subset. All tumors showed PAX8 nuclear positivity and SMARCB1 loss, with OCT3/4 expression in 4 of 5 cases. In summary, this first series of renal cell carcinoma, unclassified, with medullary phenotype documents tumors with morphologic, immunophenotypic, and prognostic features of RMC occurring in individuals without sickle cell trait. Although greater biologic and molecular understanding is needed, the available evidence points to these cases representing a sporadic counterpart to sickle cell trait–associated RMC.

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