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Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma

Renal medullary carcinoma (RMC) is a rare entity with poor prognosis bearing inactivating genomic alterations in SMARCB1/INI1 resulting in the loss of expression of INI1 and occurring in young patients with sickle cell trait or sickle cell disease. Recently, rare examples with histological character...

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Autores principales: Valeri, Marina, Cieri, Miriam, Elefante, Grazia Maria, De Carlo, Camilla, Rudini, Noemi, Lughezzani, Giovanni, Buffi, Nicolò Maria, Terracciano, Luigi Maria, Colombo, Piergiuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8858824/
https://www.ncbi.nlm.nih.gov/pubmed/35198580
http://dx.doi.org/10.3389/fmed.2022.835599
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author Valeri, Marina
Cieri, Miriam
Elefante, Grazia Maria
De Carlo, Camilla
Rudini, Noemi
Lughezzani, Giovanni
Buffi, Nicolò Maria
Terracciano, Luigi Maria
Colombo, Piergiuseppe
author_facet Valeri, Marina
Cieri, Miriam
Elefante, Grazia Maria
De Carlo, Camilla
Rudini, Noemi
Lughezzani, Giovanni
Buffi, Nicolò Maria
Terracciano, Luigi Maria
Colombo, Piergiuseppe
author_sort Valeri, Marina
collection PubMed
description Renal medullary carcinoma (RMC) is a rare entity with poor prognosis bearing inactivating genomic alterations in SMARCB1/INI1 resulting in the loss of expression of INI1 and occurring in young patients with sickle cell trait or sickle cell disease. Recently, rare examples with histological characteristics of RMC have been described in older patients without hemoglobinopathies and provisionally termed “Renal cell carcinoma unclassified with medullary phenotype” (RCCU-MP). Fluorescence in situ Hybridization (FISH) can detect alterations in SMARCB1/INI1 consisting mostly in inactivating translocation of one allele and deletion of the second. To date, only seven further cases of RCCU-MP have been described in the literature. Here we report the second Italian case of RCCU-MP, a 62-year-old man presenting with persistent dull back pain and incidentally discovering a 13 cm mass in the right kidney. The nomenclature of this entity is still debated and might be updated as a variant of medullary carcinoma in the upcoming WHO classification. In the meantime, we encourage awareness of these extraordinarily rare neoplasms with poor outcomes.
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spelling pubmed-88588242022-02-22 Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma Valeri, Marina Cieri, Miriam Elefante, Grazia Maria De Carlo, Camilla Rudini, Noemi Lughezzani, Giovanni Buffi, Nicolò Maria Terracciano, Luigi Maria Colombo, Piergiuseppe Front Med (Lausanne) Medicine Renal medullary carcinoma (RMC) is a rare entity with poor prognosis bearing inactivating genomic alterations in SMARCB1/INI1 resulting in the loss of expression of INI1 and occurring in young patients with sickle cell trait or sickle cell disease. Recently, rare examples with histological characteristics of RMC have been described in older patients without hemoglobinopathies and provisionally termed “Renal cell carcinoma unclassified with medullary phenotype” (RCCU-MP). Fluorescence in situ Hybridization (FISH) can detect alterations in SMARCB1/INI1 consisting mostly in inactivating translocation of one allele and deletion of the second. To date, only seven further cases of RCCU-MP have been described in the literature. Here we report the second Italian case of RCCU-MP, a 62-year-old man presenting with persistent dull back pain and incidentally discovering a 13 cm mass in the right kidney. The nomenclature of this entity is still debated and might be updated as a variant of medullary carcinoma in the upcoming WHO classification. In the meantime, we encourage awareness of these extraordinarily rare neoplasms with poor outcomes. Frontiers Media S.A. 2022-02-07 /pmc/articles/PMC8858824/ /pubmed/35198580 http://dx.doi.org/10.3389/fmed.2022.835599 Text en Copyright © 2022 Valeri, Cieri, Elefante, De Carlo, Rudini, Lughezzani, Buffi, Terracciano and Colombo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Valeri, Marina
Cieri, Miriam
Elefante, Grazia Maria
De Carlo, Camilla
Rudini, Noemi
Lughezzani, Giovanni
Buffi, Nicolò Maria
Terracciano, Luigi Maria
Colombo, Piergiuseppe
Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma
title Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma
title_full Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma
title_fullStr Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma
title_full_unstemmed Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma
title_short Case Report: Unclassified Renal Cell Carcinoma With Medullary Phenotype and SMARCB1/INI1 Deficiency, Broadening the Spectrum of Medullary Carcinoma
title_sort case report: unclassified renal cell carcinoma with medullary phenotype and smarcb1/ini1 deficiency, broadening the spectrum of medullary carcinoma
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8858824/
https://www.ncbi.nlm.nih.gov/pubmed/35198580
http://dx.doi.org/10.3389/fmed.2022.835599
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