SMARCA4-deficient uterine sarcoma: A case report and a concise review

Ali Kord; Atul Eppurath; Hamidou Drammeh; Ismail Elbaz Younes; Karen L. Xie

doi:10.1016/j.crwh.2020.e00231

SMARCA4-deficient uterine sarcoma: A case report and a concise review

Ali Kord
, Atul Eppurath
, Hamidou Drammeh
, Ismail Elbaz Younes
, Karen L. Xie

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

Background: SMARCA4-deficient uterine sarcoma (SDUS) is a newly discovered undifferentiated uterine mesenchymal malignancy which has loss of expression of SMARCA4. Case: A 46-year-old woman presented with heavy irregular vaginal bleeding over the previous 5 months. Computed tomography and magnetic resonance imaging showed a large pelvic mass centered within the uterus, suspicious of malignancy with regional metastatic lymphadenopathy. Biopsy confirmed SDUS and patient underwent chemotherapy. Her symptoms improved 3 months after treatment. Conclusion: An extremely rare case of this newly described entity is reported. Recognizing the characteristic imaging and pathology findings of SDUS is essential for an accurate diagnosis, which may affect patient survival.

Original language	English (US)
Article number	e00231
Journal	Case Reports in Women's Health
Volume	27
DOIs	https://doi.org/10.1016/j.crwh.2020.e00231
State	Published - Jul 2020
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2020

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Small cell carcinoma of the ovary
SMARCA4
Uterine malignancies
Uterine sarcoma

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10.1016/j.crwh.2020.e00231

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title = "SMARCA4-deficient uterine sarcoma: A case report and a concise review",

abstract = "Background: SMARCA4-deficient uterine sarcoma (SDUS) is a newly discovered undifferentiated uterine mesenchymal malignancy which has loss of expression of SMARCA4. Case: A 46-year-old woman presented with heavy irregular vaginal bleeding over the previous 5 months. Computed tomography and magnetic resonance imaging showed a large pelvic mass centered within the uterus, suspicious of malignancy with regional metastatic lymphadenopathy. Biopsy confirmed SDUS and patient underwent chemotherapy. Her symptoms improved 3 months after treatment. Conclusion: An extremely rare case of this newly described entity is reported. Recognizing the characteristic imaging and pathology findings of SDUS is essential for an accurate diagnosis, which may affect patient survival.",

keywords = "Small cell carcinoma of the ovary, SMARCA4, Uterine malignancies, Uterine sarcoma",

author = "Ali Kord and Atul Eppurath and Hamidou Drammeh and \{Elbaz Younes\}, Ismail and Xie, \{Karen L.\}",

note = "Publisher Copyright: {\textcopyright} 2020",

year = "2020",

month = jul,

doi = "10.1016/j.crwh.2020.e00231",

language = "English (US)",

volume = "27",

journal = "Case Reports in Women's Health",

issn = "2214-9112",

publisher = "Elsevier B.V.",

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TY - JOUR

T1 - SMARCA4-deficient uterine sarcoma

T2 - A case report and a concise review

AU - Kord, Ali

AU - Eppurath, Atul

AU - Drammeh, Hamidou

AU - Elbaz Younes, Ismail

AU - Xie, Karen L.

PY - 2020/7

Y1 - 2020/7

N2 - Background: SMARCA4-deficient uterine sarcoma (SDUS) is a newly discovered undifferentiated uterine mesenchymal malignancy which has loss of expression of SMARCA4. Case: A 46-year-old woman presented with heavy irregular vaginal bleeding over the previous 5 months. Computed tomography and magnetic resonance imaging showed a large pelvic mass centered within the uterus, suspicious of malignancy with regional metastatic lymphadenopathy. Biopsy confirmed SDUS and patient underwent chemotherapy. Her symptoms improved 3 months after treatment. Conclusion: An extremely rare case of this newly described entity is reported. Recognizing the characteristic imaging and pathology findings of SDUS is essential for an accurate diagnosis, which may affect patient survival.

AB - Background: SMARCA4-deficient uterine sarcoma (SDUS) is a newly discovered undifferentiated uterine mesenchymal malignancy which has loss of expression of SMARCA4. Case: A 46-year-old woman presented with heavy irregular vaginal bleeding over the previous 5 months. Computed tomography and magnetic resonance imaging showed a large pelvic mass centered within the uterus, suspicious of malignancy with regional metastatic lymphadenopathy. Biopsy confirmed SDUS and patient underwent chemotherapy. Her symptoms improved 3 months after treatment. Conclusion: An extremely rare case of this newly described entity is reported. Recognizing the characteristic imaging and pathology findings of SDUS is essential for an accurate diagnosis, which may affect patient survival.

KW - Small cell carcinoma of the ovary

KW - SMARCA4

KW - Uterine malignancies

KW - Uterine sarcoma

UR - https://www.scopus.com/pages/publications/85086002456

UR - https://www.scopus.com/pages/publications/85086002456#tab=citedBy

U2 - 10.1016/j.crwh.2020.e00231

DO - 10.1016/j.crwh.2020.e00231

M3 - Article

AN - SCOPUS:85086002456

SN - 2214-9112

VL - 27

JO - Case Reports in Women's Health

JF - Case Reports in Women's Health

M1 - e00231

ER -

SMARCA4-deficient uterine sarcoma: A case report and a concise review

Abstract

Bibliographical note

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