Unclassifiable renal carcinoma with medullary phenotype and SMARCB1 deficiency: case report Article Swipe
Samya Hamad Mehanna
,
Thiago Gabriel Ronkoski
,
Cacá Machado
,
Linda Wolff
,
A Cavalli
,
Thiago Hota
,
Fernando C. Koleski
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3389/fruro.2025.1582675
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3389/fruro.2025.1582675
Background Renal medullary carcinoma (RMC) is an aggressive tumor representing less than 0.5% of renal cell carcinomas (RCC), and it is considered rare. When it occurs, patients typically have sickle cell trait, sickle cell disease, or an associated hemoglobinopathy, which is a necessary characteristic for diagnosis. Additionally, RMC is characterized by the inactivation of alterations in the SMARCB1 (INI1) tumor suppressor gene, resulting in the loss of INI1 immunohistochemical expression. However, there are tumors reported in the literature with the same morphological and phenotypic characteristics as RMC but without hemoglobinopathy, referred to as “unclassified RCC with medullary phenotype.” Case report We present the 13th case of unclassified renal cell carcinoma with a medullary phenotype in a 20-year-old woman. The patient was admitted with complaints of macroscopic hematuria, with no significant findings on physical examination. Diagnostic investigation included a computed tomography urogram, which revealed a hypovascular oval image with central cystic/necrotic areas in the middle third of the right kidney, measuring 32 mm, suggesting a possible diagnosis of an infected renal cyst. Subsequent magnetic resonance imaging showed findings consistent with an atypical presentation of primary neoplasia in the differential diagnosis, prompting a renal biopsy for case definition. Histopathological analysis revealed a high-grade infiltrative epithelioid neoplasm. Immunohistochemistry showed positivity for PAX8 and loss of INI-1 expression. No hemoglobinopathies were identified in the patient, in this context, the neoplasm is appropriately classified as unclassified renal cell carcinoma (RCC) with medullary phenotype and SMARCB1 deficiency. The instituted therapy consisted of right radical nephrectomy with retroperitoneal lymphadenectomy, with nodal metastases detected. Conclusion Given the rarity of unclassified RCC with a medullary phenotype, continuous documentation and analysis of individual cases not associated with sickle cell trait are crucial to understanding its behavior, prognosis, and potential therapeutic approaches, considering its aggressiveness and high metastatic potential.
Related Topics
Concepts
Pathology
SMARCB1
Medicine
Sickle cell trait
Clear cell carcinoma
Nephrectomy
Renal cell carcinoma
Kidney
Differential diagnosis
Context (archaeology)
Clear cell
Immunohistochemistry
Biopsy
Carcinoma
Clear cell renal cell carcinoma
Internal medicine
Biology
Disease
Chromatin remodeling
DNA
Paleontology
Chromatin
Genetics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fruro.2025.1582675
- https://www.frontiersin.org/journals/urology/articles/10.3389/fruro.2025.1582675/pdf
- OA Status
- diamond
- Cited By
- 1
- References
- 36
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4411109717
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4411109717Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3389/fruro.2025.1582675Digital Object Identifier
- Title
-
Unclassifiable renal carcinoma with medullary phenotype and SMARCB1 deficiency: case reportWork title
- Type
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articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-06-06Full publication date if available
- Authors
-
Samya Hamad Mehanna, Thiago Gabriel Ronkoski, Cacá Machado, Linda Wolff, A Cavalli, Thiago Hota, Fernando C. KoleskiList of authors in order
- Landing page
-
https://doi.org/10.3389/fruro.2025.1582675Publisher landing page
- PDF URL
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https://www.frontiersin.org/journals/urology/articles/10.3389/fruro.2025.1582675/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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diamondOpen access status per OpenAlex
- OA URL
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https://www.frontiersin.org/journals/urology/articles/10.3389/fruro.2025.1582675/pdfDirect OA link when available
- Concepts
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Pathology, SMARCB1, Medicine, Sickle cell trait, Clear cell carcinoma, Nephrectomy, Renal cell carcinoma, Kidney, Differential diagnosis, Context (archaeology), Clear cell, Immunohistochemistry, Biopsy, Carcinoma, Clear cell renal cell carcinoma, Internal medicine, Biology, Disease, Chromatin remodeling, DNA, Paleontology, Chromatin, GeneticsTop concepts (fields/topics) attached by OpenAlex
- Cited by
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1Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1Per-year citation counts (last 5 years)
- References (count)
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36Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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