Loss of ARID1A expression in endometrial samplings is associated with the risk of endometrial carcinoma

Yen, Ting Tai; Miyamoto, Tsutomu; Asaka, Shiho; Chui, M. Herman; Wang, Yeh; Lin, Sheng-Fuu; Stone, Rebecca L.; Fader, Amanda N.; Asaka, Ryoichi; Kashima, Hiroyasu; Shiozawa, Tanri; Wang, Tian Li; Shih, Ie Ming; Tanner, Edward J.

doi:10.1016/j.ygyno.2018.06.025

Cited by 39 publications

(25 citation statements)

References 22 publications

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“…At the end of the study selection process, seven studies were finally included in the systematic review (Fig. ).…”

Section: Resultsmentioning

confidence: 99%

“…Secondly, in patients eligible for conservative treatment, ARID1A loss might lead to perform a more careful evaluation of eligibility and a closer follow‐up, due to the high risk of cancer. In fact, ARID1A loss was found to be associated with myoinvasive EC . An intravenous contrast‐enhanced abdomen and pelvis magnetic resonance (recommended for conservative treatment of EC, but not of EH) might be necessary in order to confirm the absence of myometrial or cervical invasion, as well as extrauterine metastases .…”

Section: Discussionmentioning

confidence: 99%

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Diagnostic and prognostic value of ARID1A in endometrial hyperplasia: a novel marker of occult cancer

Raffone

Travaglino

Saccone

et al. 2019

APMIS

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Raffone A, Travaglino A, Saccone G, Cieri M, Mascolo M, Mollo A, Insabato L, Zullo F. Diagnostic and prognostic value of ARID1A in endometrial hyperplasia: a novel marker of occult cancer. APMIS 2019; 127: 597-606.AT-rich interaction domain 1A (ARID1A) is a tumor suppressor protein involved in endometrioid carcinogenesis. The expression of ARID1A may be lost in the premalignant phase. Our aim was to assess ARID1A as: (i) diagnostic marker to differentiate premalignant endometrial hyperplasia (EH) form benign EH; (ii) prognostic marker for the risk of occult cancer in premalignant EH. A systematic review and meta-analysis were performed by searching electronic databases from their inception to October 2018 for all studies assessing ARID1A in EH by immunohistochemistry. Sensitivity, specificity, positive and negative likelihood ratios (LR+ and LRÀ), and diagnostic odds ratio (DOR) were calculated for both diagnostic and prognostic accuracy. LR+ > 5, LRÀ < 0.2, DOR > 25 defined good accuracy; LR+ > 10, LRÀ < 0.1, DOR > 100 defined excellent accuracy. Seven studies with 467 EH were included. As diagnostic marker, ARID1A showed sensitivity = 0.12, specificity = 0.99, LR+ = 4.34, LRÀ = 0.85, DOR = 5.12. As prognostic marker for occult cancer, ARID1A showed sensitivity = 0.33, specificity = 0.99, LR+ = 20.70, LRÀ = 0.49, DOR = 49.59. In conclusion, ARID1A loss is highly specific, but little accurate as diagnostic marker of premalignant EH. Instead, ARID1A loss in premalignant EH is an accurate and almost perfectly specific prognostic marker for coexistent cancer.

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“…At the end of the study selection process, seven studies were finally included in the systematic review (Fig. ).…”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Diagnostic and prognostic value of ARID1A in endometrial hyperplasia: a novel marker of occult cancer

Raffone

Travaglino

Saccone

et al. 2019

APMIS

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“…In one study, tumor markers CA125 and CA19.9 were also assessed, reporting normal values; however, evidence for their use is lacking. Instead, it is possible that some markers associated with premalignant endometrial hyperplasia or endometrial cancer might also be useful in the diagnosis and risk stratification of APA, as these two lesions share several molecular features …”

Section: Discussionmentioning

confidence: 99%

Management of women with atypical polypoid adenomyoma of the uterus: A quantitative systematic review

Raffone

Travaglino

Saccone

et al. 2019

Acta Obstet Gynecol Scand

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Introduction:Atypical polypoid adenomyoma is an uncommon uterine lesion which can coexist with endometrial atypical hyperplasia and/or cancer. Atypical polypoid adenomyoma affects premenopausal women in most cases, but it shows high recurrence rate if conservatively treated. To date, the management of patients is based on low-quality evidence and is not standardized. Our primary aim was to explore the optimal management of atypical polypoid adenomyoma, with particular regard to the fertility-sparing approach. The secondary aim was to define clinicopathologic features of atypical polypoid adenomyoma. Material and methods: Medline, Embase, Web of Sciences, Scopus, ClinicalTrial.gov, OVID, Google Scholar and Cochrane Library were searched for studies reporting outcomes of atypical polypoid adenomyoma treatments. Univariate comparisons among outcomes of fertility-sparing treatments (rates of initial response, progression, recurrence, final complete response, pregnancy) were performed with Fisher's exact test (α = .05).Results: Eleven retrospective studies with 237 patients were included; 85.5% of patients were premenopausal and 62.9% were nulliparous. Atypical polypoid adenomyoma coexisted with atypical hyperplasia in 5.5% of cases and with endometrial cancer in 5.9%. Overall risks of recurrence and progression to cancer were 28.9% and 16.6%, respectively. Fertility-sparing treatments included hormonal therapy with or without maintenance, hysteroscopic transcervical resection, dilation and curettage, and hormonal therapy combined with transcervical resection or dilation and curettage.Transcervical resection showed significantly higher initial response rates (P from <0.001 to 0.023) than any other treatment. Transcervical resection and transcervical resection+hormonal therapy showed significantly lower progression rates (P < 0.001), and higher final complete response rates (P < 0.001) than any other treatment. No significant differences were found in the rates of pregnancy (P = 0.533 -0.647) or recurrence (P = 0.052 -0.475). Among the different transcervical resection techniques, the 4-step transcervical resection showed significantly lower rates of progression | 843 RAFFONE Et Al.

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“…All ARID1A mutations in our cohort were truncating (this was consistent with the mutations observed across endometrial cancer and other tumor types), 14,26 and they occurred exclusively in the progressing hyperplasia cases (33% of cases). ARID1A mutations have been previously described as a risk factor for endometrial carcinoma in biopsies of complex AH 27 …”

Section: Resultsmentioning

confidence: 99%

Mutational profile of endometrial hyperplasia and risk of progression to endometrioid adenocarcinoma

Russo

Newell

Budurlean

et al. 2020

Cancer

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BACKGROUND: Endometrial hyperplasia is a precursor to endometrioid adenocarcinoma (EMC), the most common uterine cancer. The likelihood of progression to carcinoma may be evaluated by histologic subclassification of endometrial hyperplasia, although these subclasses are subjective and only modestly reproducible among pathologists. Patient care would be improved by a more objective test to predict the risk of cancer progression. METHODS: Next-generation sequencing was performed on archived endometrial biopsy specimens from a retrospective cohort of women with endometrial hyperplasia. Cases were considered to be either progressing if the patient subsequently developed EMC or resolving if the patient had a subsequent negative tissue sampling or no cancer during medium-term follow-up (32 patients: 15 progressing and 17 resolving). Somatic mutations in endometrial hyperplasia were assessed for enrichment in progressing cases versus resolving cases, with an emphasis on genes commonly mutated in EMC. RESULTS: Several mutations were more common in progressing hyperplasia than resolving hyperplasia, although significant overlap was observed between progressing and resolving cases. Mutations included those in PTEN, PIK3CA, and FGFR2, genes commonly mutated in EMC. Mutations in ARID1A and MYC were seen only in progressing hyperplasia, although these were uncommon; this limited diagnostic sensitivity. Progressing hyperplasia demonstrated an accumulation of mutations in oncogenic signaling pathways similarly to endometrial carcinoma. CONCLUSIONS: Because of mutational differences between progressing and nonprogressing hyperplasia, mutational analysis may predict the risk of progression from endometrial hyperplasia to EMC. Cancer 2020;126:2775-2783.

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Loss of ARID1A expression in endometrial samplings is associated with the risk of endometrial carcinoma

Cited by 39 publications

References 22 publications

Diagnostic and prognostic value of ARID1A in endometrial hyperplasia: a novel marker of occult cancer

Diagnostic and prognostic value of ARID1A in endometrial hyperplasia: a novel marker of occult cancer

Management of women with atypical polypoid adenomyoma of the uterus: A quantitative systematic review

Mutational profile of endometrial hyperplasia and risk of progression to endometrioid adenocarcinoma

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