Genetic analysis of uterine aspirates improves the diagnostic value and captures the intra-tumor heterogeneity of endometrial cancers

Mota, Alba; Colás, Eva; García-Sanz, Pablo; Campoy, Irene; Rojo-Sebastián, Alejandro; Gatius, Sònia; García, Ángel; Chiva, Luis; Alonso, Sonsoles; Gil‐Moreno, Antonio; González-Tallada, Xavier; Díaz-Feijoó, Berta; Vidal, August; Ziober-Malinowska, Patrycja; Bobinski, M.; López‐López, Rafael; Abal, Miguel; Reventós, Jaume; Matías‐Guiu, Xavier; Moreno‐Bueno, Gema

doi:10.1038/modpathol.2016.143

Cited by 34 publications

(45 citation statements)

References 40 publications

(65 reference statements)

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“…Adding mutational analysis to pipelle endometrial biopsies has been previously studied by Mota et al ., investigating 54 EC uterine aspirates. They found sensitivity of 94% and a specificity of 96%, comparable to the pipelle results within our own study …”

Section: Discussionsupporting

confidence: 89%

Mutational analysis of cervical cytology improves diagnosis of endometrial cancer: A prospective multicentre cohort study

Reijnen

Putten

Bulten

et al. 2019

Intl Journal of Cancer

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Endometrial carcinoma (EC) is traditionally diagnosed by a histopathological assessment of an endometrial biopsy, leaving up to 30% of patients undiagnosed due to technical failure or an inadequate amount of tissue. The aim of the current study is to assess whether mutational analysis of cervical cytology or pipelle endometrial biopsies improves the diagnostic accuracy of traditional histopathological diagnosis of EC. This prospective multicentre cohort study included patients surgically treated for EC or a benign gynaecological condition (control group). A Pap brush sample, cervicovaginal self‐sample, pipelle endometrial biopsy and surgical specimen of either the EC or normal endometrium were obtained. A targeted next‐generation sequencing panel was used to analyse these samples for mutations in eight genes. Sensitivity, specificity and predictive values were calculated. Fifty‐nine EC patients and 31 control patients were included. In these patients, traditional histopathological diagnosis by pipelle had a sensitivity of 79% and a specificity of 100%. For EC patients, 97% of surgical specimens contained at least one mutation. Mutational analysis of Pap brush samples, self‐samples and pipelle endometrial biopsies yielded a sensitivity of 78, 67 and 96% with a specificity of 97, 97 and 94%, respectively. Combining one of these three methods with histopathological pipelle endometrial biopsy evaluations yielded a sensitivity of 96, 93 and 96%, respectively. Our study has shown that mutational analysis of either cervical cytology or pipelle endometrial biopsies improves diagnosis of EC. Prospective validation will support implementation in clinical practice.

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Section: Discussionsupporting

confidence: 89%

Mutational analysis of cervical cytology improves diagnosis of endometrial cancer: A prospective multicentre cohort study

Reijnen

Putten

Bulten

et al. 2019

Intl Journal of Cancer

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“…The evidence of this theory has been recently demonstrated in endometrial cancer as well. 26,27 We should note that endometrial carcinomas are uniform, with respect to genetic events that occur early during oncogenesis, such as MMR loss, POLE mutation, or TP53 mutation. 26,28 Thus, endometrial biopsy or curettings can predict genomic subtypes of endometrial cancer more accurately than grade.…”

Section: Discussionmentioning

confidence: 99%

Tumor Grade Correlation Between Preoperative Biopsy and Final Surgical Specimen in Endometrial Cancer: The Use of Different Diagnostic Methods and Analysis of Associated Factors

Lago¹,

Martín

Ballesteros

et al. 2018

Int J Gynecol Cancer

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Preoperative biopsy, regardless of the method, has its limitations in predicting the tumor grade compared with final surgical specimen in women with endometrioid endometrial cancer at an apparent early stage. Concordance between the biopsy and hysterectomy specimen is less likely to happen in the case of preoperative G1 or G2 tumors, as well as in big tumors. Although hysteroscopy was associated with the highest tumor grade agreement, no differences in correlation between the 3 methods (D&C, Pipelle, and hysteroscopy) were found.

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“…Despite these stratification conditionings, and as demonstrated in the majority of solid tumours, EC shows intratumour heterogeneity with different neoplastic cell components within the same tumour. These cells have different morphologic and molecular features that may present a relevant clinical impact, especially for the assessment of prognosis and clinical management of EC patients [8]. In this sense, the use of liquid biopsies to diagnose and characterise EC can facilitate the integration of tumour heterogeneity into the therapy selection and monitoring.…”

Section: Challenges In Endometrial Cancermentioning

confidence: 99%

“…This will improve diagnosis and assist in the prediction of the optimal surgical treatment. In addition to proteomics in uterine aspirates as an alternative form of liquid biopsy, the potential of targeted genetic sequencing of uterine aspirates has been assessed as a pre-operative tool to obtain reliable information regarding the mutational profile of a given tumour, even in samples that are not histologically classifiable [8]. Notably, the genetic analysis of uterine aspirates captures the high intratumour genetic heterogeneity associated with endometrial cancer, solving the potential problem of incomplete genetic characterisation when a single tumour biopsy is analysed.…”

Section: Liquid Biopsy In Endometrial Cancermentioning

confidence: 99%

Liquid Biopsy in Endometrial Cancer: New Opportunities for Personalized Oncology

Muinelo‐Romay

Casas-Arozamena

Abal

2018

IJMS

Self Cite

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The identification of new molecular targets and biomarkers associated with high risk of recurrence and response to therapy represents one of the main clinical challenges in the management of advanced disease in endometrial cancer. In this sense, the field of liquid biopsy has emerged as a great revolution in oncology and is considered “the way” to reach personalised medicine. In this review, we discuss the promising but already relatively limited advances of liquid biopsy in endometrial cancer compared to other types of tumours like breast, colorectal or prostate cancer. We present recent data analysing circulating tumour material in minimally-invasive blood samples, but also in alternative forms of liquid biopsy like uterine aspirates. Proteomic and genomic studies focused on liquid-based uterine samples are resulting not only in optimal diagnostic tools but also in reliable approaches to address tumour heterogeneity. Likewise, circulating tumour cells (CTCs) and circulating tumour DNA (ctDNA) represent an opportunity for the correct stratification of patients, for the assessment of early recurrent disease or for the real-time monitoring of therapy responses. Appropriately designed studies and implementation in clinical trials will determine the value of liquid biopsy for precision oncology in endometrial cancer.

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Genetic analysis of uterine aspirates improves the diagnostic value and captures the intra-tumor heterogeneity of endometrial cancers

Cited by 34 publications

References 40 publications

Mutational analysis of cervical cytology improves diagnosis of endometrial cancer: A prospective multicentre cohort study

Mutational analysis of cervical cytology improves diagnosis of endometrial cancer: A prospective multicentre cohort study

Tumor Grade Correlation Between Preoperative Biopsy and Final Surgical Specimen in Endometrial Cancer: The Use of Different Diagnostic Methods and Analysis of Associated Factors

Liquid Biopsy in Endometrial Cancer: New Opportunities for Personalized Oncology

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