Cargando…
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...
Autores principales: | , , , , , , , , |
---|---|
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 |
_version_ | 1784654320427335680 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8858824 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT valerimarina casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma AT cierimiriam casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma AT elefantegraziamaria casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma AT decarlocamilla casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma AT rudininoemi casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma AT lughezzanigiovanni casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma AT buffinicolomaria casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma AT terraccianoluigimaria casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma AT colombopiergiuseppe casereportunclassifiedrenalcellcarcinomawithmedullaryphenotypeandsmarcb1ini1deficiencybroadeningthespectrumofmedullarycarcinoma |