Dedifferentiated endometrioid adenocarcinoma of the uterus: A case series and review of literature

Goh, Christopher; Farah, Benjamin L.; Ho, Weng Yan; Wong, SL; Chew, Sung Hock; Nadarajah, Ravichandran; Lim, Yong Kuei; Ho, Tse‐Lok

doi:10.1016/j.gore.2020.100538

Cited by 6 publications

(10 citation statements)

References 8 publications

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“…However, few reports are describing the actual use of immune checkpoint inhibitors for MSI-High endometrial dedifferentiated carcinoma. Goh et al [ 30 ] reported 15 months of stable disease and the disappearance of ascites using a combined chemotherapy of pembrolizumab and gemcitabine for stage IIIA endometrial dedifferentiated carcinoma that recurred during postoperative paclitaxel and carboplatin therapy.…”

Section: Discussion/conclusionmentioning

confidence: 99%

Comprehensive Genomic Profiling for Therapeutic Decision and Identification of Gene Mutation in Uterine Endometrial Dedifferentiated Carcinoma

Taira¹,

Shimoji²,

Arakaki³

et al. 2022

Case Rep Oncol

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Endometrial dedifferentiated carcinoma is a new concept among endometrial malignancies, is rare, and has a poor prognosis as it is discovered in advanced stages and has no established treatment. It has higher rates of gene mutations, such as mismatch repair, than general endometrial cancer and has been associated with Lynch syndrome. However, due to its heterogeneity, case-by-case searches are needed. Comprehensive genomic profiling by Foundation One® CDx can comprehensively identify over 300 gene mutations via a next-generation sequencer and can evaluate biomarkers, such as the microsatellite status and tumor mutation burden. Therefore, it may be beneficial in identifying therapeutic targets and drugs for diseases whose treatment has not been established. In this case, 13 therapies, including immune checkpoint inhibitor therapy for microsatellite instability-High and 40 clinical trials for several gene mutations might be beneficial. We report a case of endometrial dedifferentiated carcinoma for which Foundation One® CDx gene profiling was used to propose treatment.

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Section: Discussion/conclusionmentioning

confidence: 99%

Comprehensive Genomic Profiling for Therapeutic Decision and Identification of Gene Mutation in Uterine Endometrial Dedifferentiated Carcinoma

Taira¹,

Shimoji²,

Arakaki³

et al. 2022

Case Rep Oncol

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“…However, PD-L1 expression in UDEC in this series accounted for 66.7% of cases (10/17 cases) [ 18 ], which suggests that DEC could be a good target for immune checkpoint inhibitors [ 44 ]. A DEC case was reported to have been successfully salvaged with pembrolizumab, with 15 months of progression-free survival [ 45 ].…”

Section: Histological Diagnosis Immunohistochemistry and Genetic Alte...mentioning

confidence: 99%

“…Due to the rarity of UDEC, there was little experience with novel treatment in case series. Real-world experience was limited to conventional chemotherapy and/or radiotherapy [ 49 , 50 ], as listed in Table 2 [ 11 , 21 , 45 , 49 , 50 , 51 ]. According to most clinical guidelines [ 52 , 53 ], comprehensive staging surgery should be performed in operable cases, including total hysterectomy with bilateral salpingo-oophorectomy, systematic lymphadenectomy, and infracolic omentectomy [ 53 ].…”

Section: Treatment and Prognosismentioning

confidence: 99%

“…Her tumor size was relatively small (1.8cm), with a 25% UEC component and one (out of eight) lymph node metastasis of the endometrioid component. They also compared DEC patients with grade 3 endometrioid EC, which showed a 2-year survival OS of 31.3% in DEC versus 82.8% in their institution [ 45 ]. Whether the percentage of DEC and the grade of the DEC component in the primary tumor affects prognosis is still controversial.…”

Section: Treatment and Prognosismentioning

confidence: 99%

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Rare Subtype of Endometrial Cancer: Undifferentiated/Dedifferentiated Endometrial Carcinoma, from Genetic Aspects to Clinical Practice

Tung

Lin

et al. 2022

IJMS

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Endometrial cancer (EC) is one of the most common gynecologic cancers worldwide. There were 417,367 newly diagnosed cases and 97,370 deaths due to this disease worldwide in 2020. The incidence rates have increased over time, especially in countries with rapid socioeconomic transitions, and EC has been the most prevalent gynecologic malignancy in Taiwan since 2012. The new EC molecular classifications of The Cancer Genome Atlas (TCGA) Research Network include clear-cell carcinoma, serous carcinoma, and carcinosarcoma, while undifferentiated/dedifferentiated EC (UDEC) is not mentioned, and most previous clinical trials for EC have not included UDEC. UDEC is rare, has an aggressive growth pattern, tends to be diagnosed at an advanced stage, and is resistant to conventional chemotherapy. In this review, case series or case reports on the clinical features and genomic/epigenetic and expression profiles on UDEC data are summarized in order to identify potential molecular targets for current and future research.

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“…3 This is a recently recognized entity with few reported cases in literature. 4,5 Switch/sucrose non-fermenting (SWI/SNF)-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 (SMARCA4/BRG1), and SWI/ SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily B, member 1 (SMARCB1/INI1) are part of the SWI/SNF complex, that is, the chromatin remodeling complex. It has functional tumor suppressor activity and the inactivation of individual subunits can promote tumor development.…”

Section: Introductionmentioning

confidence: 99%

Role of SMARCA4 (BRG1) and SMARCB1 (INI1) in Dedifferentiated Endometrial Carcinoma With Paradoxical Aberrant Expression of MMR in the Well-Differentiated Component: A Case Report and Review of the Literature

Kaur¹,

Mehta²,

Borges³

2020

Int J Surg Pathol

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Introduction Dedifferentiated endometrial carcinoma is an uncommon highly aggressive uterine tumor. It comprises 2 components: a well-differentiated, low-grade epithelial carcinoma and an undifferentiated carcinoma. The undifferentiated carcinoma frequently exhibits rhabdoid cytologic features. Many of these tumors are characterized by an aberrant switch/sucrose non-fermenting (SWI/SNF) complex. They may also exhibit aberrant expression of mismatch repair (MMR) proteins. Together, these play an important role in the pathogenesis and aggressive nature of the tumor. Material and Methods We present a case of dedifferentiated endometrial carcinoma in a 63-year-old female showing loss of expression of SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 (SMARCA4/BRG1), and aberrant expression of MMR proteins. We also review the literature starting from the earliest recognition of this entity and the various studies done to explain its molecular pathogenesis and prognostic importance. Results and Conclusions Recognition of SWI/SNF complex-deficient dedifferentiated endometrial carcinoma is important as these tumors do not respond to platinum-based chemotherapy, and consideration of alternative therapies is often necessary. We also want to emphasize that though most of the studies have found MMR deficiency in the undifferentiated carcinoma component, it may be seen only in the low-grade, well-differentiated component, as observed in this case.

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Dedifferentiated endometrioid adenocarcinoma of the uterus: A case series and review of literature

Cited by 6 publications

References 8 publications

Comprehensive Genomic Profiling for Therapeutic Decision and Identification of Gene Mutation in Uterine Endometrial Dedifferentiated Carcinoma

Comprehensive Genomic Profiling for Therapeutic Decision and Identification of Gene Mutation in Uterine Endometrial Dedifferentiated Carcinoma

Rare Subtype of Endometrial Cancer: Undifferentiated/Dedifferentiated Endometrial Carcinoma, from Genetic Aspects to Clinical Practice

Role of SMARCA4 (BRG1) and SMARCB1 (INI1) in Dedifferentiated Endometrial Carcinoma With Paradoxical Aberrant Expression of MMR in the Well-Differentiated Component: A Case Report and Review of the Literature

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