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      Epithelioid Leiomyosarcoma of the Uterus and the Diagnostic Challenge in Diagnosing it on Small Biopsy

      case-report

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          Abstract

          Epithelioid leiomyosarcoma of the uterus is a rare soft-tissue tumor of the pelvis with <1% cases. It can be asymptomatic or can reach an enormous size, resulting in chronic pelvic pain, postmenopausal bleeding, or may cause bowel and bladder dysfunction. The diagnostic dilemma arises especially when they have epithelioid morphology. This case is being presented because of its rare incidence along with the diagnostic dilemma it presented due to epithelioid morphology which is a very rare presentation, especially challenging on small biopsies. This case also highlights the usefulness of immunohistochemical markers, such as WT1, p53, and p16, which has important diagnostic as well as prognostic values in rare variants of usual tumors. Leiomyosarcoma per se is a highly aggressive tumor, therefore, timely diagnosis and management are advised.

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          Most cited references9

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          Uterine sarcomas in Norway. A histopathological and prognostic survey of a total population from 1970 to 2000 including 419 patients.

          To determine the frequency and survival of the various types of uterine sarcoma in the total population of Norway and evaluate histopathological prognostic factors in order to identify risk groups. Histopathological review of all uterine sarcoma cases reported to the Norwegian Cancer Registry during 1970-2000 was undertaken. Survival dates were provided by The Cancer Registry. Kaplan-Meier survival curves were generated. The log rank test was used for univariate analysis and a Cox proportional hazards regression model for multivariate evaluation of survival. Stage of disease was the most important prognostic factor for all tumour types. Tumour size and the mitotic index (MI) were significant prognostic factors (P < 0.0001) in leiomyosarcomas confined to the uterus and allowed for separation into three risk groups with marked differences in prognosis. The prognosis of endometrial stromal sarcomas confined to the uterus was related to MI (P < 0.0001) and tumour cell necrosis (P < 0.004). Combining these parameters allowed for separation into three risk groups with marked difference in prognosis. In adenosarcomas, tumour cell necrosis was the only significant prognostic factor. There are marked differences in survival between uterine sarcoma types. Leiomyosarcomas and endometrial stromal sarcomas can be divided into different groups.
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            Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile

            Uterine Leiomyosarcoma (uLMS) is by far the most common type of uterine sarcoma, characterized by an aggressive clinical course, a heterogeneous genetic profile and a very scarce response to cytotoxic chemotherapy. The genetic make-up of uLMS is an area of active study that could provide essential cues for the development of new therapeutic approaches. A total of 216 patients with uLMS from cBioPortal and AACR-GENIE databases were included in the study. The vast majority of patients (81%) carried at least one mutation in either TP53, RB1, ATRX or PTEN. The most frequently mutated gene was TP53, with 61% of the patients harboring at least one mutation, followed by RB1 at 48%. PTEN alteration was more frequent in metastases than in primary lesions, consistent with a later acquisition during tumor progression. There was a significant trend for TP53 and RB1 mutations to occur together, while both TP53 and RB1 were mutually exclusive with respect to CDKN2A/B inactivation. Overall survival did not show significant correlation with the mutational status, even if RB1 mutation emerged as a favorable prognostic factor in the TP53-mutant subgroup. This comprehensive analysis shows that uLMS is driven almost exclusively by the inactivation of tumor suppressor genes and suggests that future therapeutic strategies should be directed at targeting the main genetic drivers of uLMS oncogenesis.
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              Upregulation of Wilms' tumour gene 1 (WT1) in uterine sarcomas.

              Overexpression of Wilms' tumour gene (WT1) has been proven in several tumours. Previous research of our group on the cell cycle of uterine leiomyosarcoma (LMS) and carcinosarcoma (CS) suggested a possible role for WT1. We therefore intended to further explore the expression pattern of WT1 in uterine sarcomas. 27 CS, 38 LMS, 15 endometrial stromal sarcomas (ESS) and seven undifferentiated sarcomas (US) were collected. WT1 expression was evaluated by immunohistochemistry (IHC) in 87 samples, by RT-PCR (m-RNA expression) in 23 random selected samples and by Western blotting in 12 samples, separating cytoplasmic and nuclear proteins. A pilot study to detect mutations (exons 7-10) was performed on eight samples. IHC showed WT1 positivity in 12/27 CS, 29/38 LMS, 7/15 ESS and 4/7 US. All-but-one sample had a positive RT-PCR. All Western blottings were positive with more cytoplasmic expression in 9/12 cases. No mutations were found. WT1 is overexpressed in uterine sarcomas. Since increased levels of mRNA determine the biological role, WT1 might contribute to uterine sarcoma tumour biology.
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                Author and article information

                Journal
                J Midlife Health
                J Midlife Health
                JMH
                Journal of Mid-Life Health
                Wolters Kluwer - Medknow (India )
                0976-7800
                0976-7819
                Jul-Sep 2022
                14 January 2023
                : 13
                : 3
                : 241-243
                Affiliations
                [1]Department of Pathology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
                Author notes
                Address for correspondence: Dr. Durre Aden, Assistant Professor, Department of Pathology, HIMSR and HAHC, New Delhi - 110 062, India. E-mail: durre.aden@ 123456gmail.com
                Article
                JMH-13-241
                10.4103/jmh.jmh_36_22
                10025825
                36950200
                2ed54da9-cf87-4a16-a606-bf28e8e5e890
                Copyright: © 2023 Journal of Mid-life Health

                This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.

                History
                : 03 February 2022
                : 26 September 2022
                : 27 September 2022
                Categories
                Case Report

                Medicine
                epithelioid leiomyosarcoma,neoplasm,pelvis,uterus
                Medicine
                epithelioid leiomyosarcoma, neoplasm, pelvis, uterus

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