SMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin

Background: SMARCB1 (INI1) mutations are often associated with primary soft tissue tumors, though are starting to be recognized as driving mutations in carcinomas of the gastrointestinal tract, often associated with undifferentiated and/or rhabdoid features and extremely poor prognosis. We detail th...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Hanan Dihowm, Manik Amin, Samuel Ballentine
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Anorectal Rhabdoid tumor Undifferentiated carcinoma SWI/SNF complex SMARCB1 INI-1 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/4eacf3fbf78c4122b886e83f7c173cc9
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:4eacf3fbf78c4122b886e83f7c173cc9
record_format	dspace
spelling	oai:doaj.org-article:4eacf3fbf78c4122b886e83f7c173cc92021-11-16T04:11:31ZSMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin2666-621910.1016/j.cpccr.2021.100095https://doaj.org/article/4eacf3fbf78c4122b886e83f7c173cc92021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2666621921000442https://doaj.org/toc/2666-6219Background: SMARCB1 (INI1) mutations are often associated with primary soft tissue tumors, though are starting to be recognized as driving mutations in carcinomas of the gastrointestinal tract, often associated with undifferentiated and/or rhabdoid features and extremely poor prognosis. We detail the first case of a SMARCB1-deficient undifferentiated carcinoma with rhabdoid features arising in the anorectal canal and document response to palliative chemoradiation therapy. Case report: A 34-yr old pregnant female presented with a large anorectal canal mass and concurrent pelvic and inguinal lymph node involvement. Biopsy revealed tumor cells with high-grade rhabdoid morphology, immunophenotype supporting a carcinoma of gastrointestinal origin, and loss of SMARCB1 (INI-1) protein expression. 5-Fluorouracil (5FU) and cisplatin chemotherapy with concurrent radiation therapy was initiated with evident radiologic primary tumor regression and palliation of pain. Despite initial therapeutic response, disease rapidly progressed resulting in death 127 days after diagnosis. Conclusion: We report the first case of a SMARCB1 (INI-1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal area. Given the currently limited therapeutic guidance on these types of tumors this case highlights the potential benefit of 5-FU and platinum based chemoradiation therapy, similar to the treatment of anal squamous carcinomas, which appeared to provide effective loco-regional control and palliative benefits.Hanan DihowmManik AminSamuel BallentineElsevierarticleAnorectalRhabdoid tumorUndifferentiated carcinomaSWI/SNF complexSMARCB1INI-1Neoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCurrent Problems in Cancer: Case Reports, Vol 4, Iss , Pp 100095- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Anorectal Rhabdoid tumor Undifferentiated carcinoma SWI/SNF complex SMARCB1 INI-1 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Anorectal Rhabdoid tumor Undifferentiated carcinoma SWI/SNF complex SMARCB1 INI-1 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Hanan Dihowm Manik Amin Samuel Ballentine SMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin
description	Background: SMARCB1 (INI1) mutations are often associated with primary soft tissue tumors, though are starting to be recognized as driving mutations in carcinomas of the gastrointestinal tract, often associated with undifferentiated and/or rhabdoid features and extremely poor prognosis. We detail the first case of a SMARCB1-deficient undifferentiated carcinoma with rhabdoid features arising in the anorectal canal and document response to palliative chemoradiation therapy. Case report: A 34-yr old pregnant female presented with a large anorectal canal mass and concurrent pelvic and inguinal lymph node involvement. Biopsy revealed tumor cells with high-grade rhabdoid morphology, immunophenotype supporting a carcinoma of gastrointestinal origin, and loss of SMARCB1 (INI-1) protein expression. 5-Fluorouracil (5FU) and cisplatin chemotherapy with concurrent radiation therapy was initiated with evident radiologic primary tumor regression and palliation of pain. Despite initial therapeutic response, disease rapidly progressed resulting in death 127 days after diagnosis. Conclusion: We report the first case of a SMARCB1 (INI-1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal area. Given the currently limited therapeutic guidance on these types of tumors this case highlights the potential benefit of 5-FU and platinum based chemoradiation therapy, similar to the treatment of anal squamous carcinomas, which appeared to provide effective loco-regional control and palliative benefits.
format	article
author	Hanan Dihowm Manik Amin Samuel Ballentine
author_facet	Hanan Dihowm Manik Amin Samuel Ballentine
author_sort	Hanan Dihowm
title	SMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin
title_short	SMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin
title_full	SMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin
title_fullStr	SMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin
title_full_unstemmed	SMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin
title_sort	smarcb1(ini1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/4eacf3fbf78c4122b886e83f7c173cc9
work_keys_str_mv	AT hanandihowm smarcb1ini1deficientundifferentiatedcarcinomawithrhabdoidfeaturesofanorectalorigin AT manikamin smarcb1ini1deficientundifferentiatedcarcinomawithrhabdoidfeaturesofanorectalorigin AT samuelballentine smarcb1ini1deficientundifferentiatedcarcinomawithrhabdoidfeaturesofanorectalorigin
_version_	1718426722093760512

SMARCB1(INI1)-deficient undifferentiated carcinoma with rhabdoid features of anorectal origin

Ejemplares similares