Uterine mesenchymal tumours: recent advances

Boroujeni, Amir Momeni; Chiang, Sarah

doi:10.1111/his.14008

Cited by 54 publications

(56 citation statements)

References 57 publications

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“…Another differential diagnosis is the undifferentiated uterine sarcoma (uniform type), which represents a “diagnosis of exclusion.” 2,6,45 This group of tumors is diminishing given the discovery of new molecular events in many sarcomas, which were previously diagnosed as “undifferentiated”; before the discovery of NTRK rearrangements (and the other molecular events discussed later in this review), NTRK rearranged sarcomas were likely to have been included in this category as were HGESS associated with YWHAE or BCOR rearrangements. For this reason, we recommend to perform S100 and pan‐Trk staining on all spindle uterine cell sarcomas without desmin, h‐caldesmon and hormone receptor expression, and if positive, this should be followed by molecular testing.…”

Section: Ntrk Fusion Uterine Sarcomamentioning

confidence: 99%

“…Up until recently, most uterine sarcomas were classified under the following categories: leiomyosarcoma, low‐grade endometrial stromal sarcoma, undifferentiated sarcoma and rare “heterologous” sarcomas, such as rhabdomyosarcoma, some of which likely represent sarcomatous overgrowth in the setting of adenosarcoma or carcinosarcoma. However, in the last few years, we have witnessed the description of several “new” uterine sarcoma types, such as high‐grade endometrial stromal sarcomas (HGESS) associated with YWHAE‐NUTM2A/B 1‐4 or BCOR 5‐7 genetic abnormalities and undifferentiated sarcomas associated with SMARCA4 mutation 8‐10 . Most of these neoplasms have been discovered given the increasing availability of sophisticated molecular techniques, such as next generation sequencing (NGS), which have revealed novel diagnostic molecular events.…”

Section: Introductionmentioning

confidence: 99%

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NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

Croce

Hostein

McCluggage

2020

Genes Chromosomes & Cancer

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The landscape of uterine sarcomas has greatly expanded in recent years to include neoplasms with recurrent gene fusions, such as BCOR and YWHAE translocated high‐grade endometrial stromal sarcomas. Sophisticated molecular techniques have also resulted in the description of “new” entities associated with recurrent kinase fusions involving NTRK and RET as well as COL1A1‐PDGFB rearranged uterine sarcomas. These rare neoplasms will be discussed in this review, highlighting that some of the underlying molecular events are clinically actionable and potentially susceptible to targeted therapy. While relatively few of these neoplasms have been described to date, likely being previously lumped under the spectrum of undifferentiated uterine sarcoma, the number of cases will expand in the future given their recognition and the increasing availability of molecular testing. These neoplasms have overlapping morphology (often with a “fibrosarcoma‐like” appearance) and immunohistochemical features, and are characterized by variable clinical outcomes. Although immunohistochemistry may assist in some cases, a definitive subclassification requires confirmatory molecular studies. As these molecular assays may not be routinely available in most laboratories, referral to reference centers may be needed. In order to assist the pathologist, we suggest a diagnostic algorithm for routine practice when dealing with a malignant or potentially malignant uterine spindle cell neoplasm.

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Section: Ntrk Fusion Uterine Sarcomamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

Croce

Hostein

McCluggage

2020

Genes Chromosomes & Cancer

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“…Rearrangements involving Pleomorphic adenoma gene 1 ( PLAG1 ) have recently been reported in a subset of myxoid uterine LMS 25,26 . In a study from our group, TRPS1‐PLAG1 and RAD51B‐PLAG1 fusions were detected by targeted RNA sequencing in 27% (n = 4/15) uterine myxoid LMS after the exclusion of BCOR and ALK fusion‐positive mesenchymal tumors 26 .…”

Section: Myxoid Leiomyosarcomamentioning

confidence: 80%

Recent advances in smooth muscle tumors with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms

Chiang

2020

Genes Chromosomes & Cancer

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Uterine epithelioid and myxoid leiomyosarcomas and inflammatory myofibroblastic tumors are rare mesenchymal neoplasms. Next‐generation sequencing recently detected novel PGR fusions in uterine epithelioid leiomyosarcomas that demonstrate characteristic rhabdoid and spindled morphology. PLAG1 gene fusions have also been identified in a subset of myxoid leiomyosarcomas and are associated with PLAG1 overexpression. ALK rearrangements underpin the vast majority of uterine inflammatory myofibroblastic tumors, which demonstrate morphologic, and immunohistochemical features similar to those of inflammatory myofibroblastic tumors elsewhere. This review summarizes the morphologic, immunophenotypic, and molecular genetic features of PGR fusion‐positive epithelioid leiomyosarcoma, PLAG1 fusion‐positive myxoid leiomyosarcoma, and inflammatory myofibroblastic tumors of the uterus.

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“…In this uncertain scenario, one of the most important challenges in the near future will probably be to better select patients to enroll in AC trials [ 39 ]. In fact, in the era of tailor-made oncology, progress in the management of uLMS cannot prescind from a close collaboration between molecular biology and clinical oncology, orienting future researches towards the identification of the patients that could really benefit from AC [ 40 , 41 ].…”

Section: Discussionmentioning

confidence: 99%

Impact of Chemotherapy in the Adjuvant Setting of Early Stage Uterine Leiomyosarcoma: A Systematic Review and Updated Meta-Analysis

Rizzo

Nannini

Astolfi

et al. 2020

Cancers

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Background: Although the use of adjuvant chemotherapy (AC) appears to be increasing over the past few years, several clinical trials and previous meta-analyses failed to determine whether AC could improve clinical outcomes in uterine leiomyosarcoma (uLMS). The aim of this systematic review and meta-analysis was to compare AC (with or without radiotherapy) versus observation (obs) after primary surgery in early stage uLMS. Materials and Methods: Randomized controlled (RCTs) and non-randomized studies (NRSs) were retrieved. Outcomes of interest were as follows: distant recurrence rate, locoregional recurrence rate and overall recurrence rate. Results about distant recurrence rate, locoregional recurrence rate and overall recurrence rate were compared by calculating odds ratios (ORs) with 95% confidence intervals (CIs); ORs were combined with Mantel–Haenszel method. Results: Nine studies were included in the analysis, involving 545 patients (AC: 252, obs: 293). Compared with obs, AC did not reduce locoregional and distant recurrence rate, with a pooled OR of 1.36 and 0.63, respectively. Similarly, administration of AC did not decrease overall recurrence rate in comparison to obs. Conclusion: According to our results, AC (with or without radiotherapy) did not decrease recurrence rate in early stage uLMS; thus, the role of AC in this setting remains unclear.

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Uterine mesenchymal tumours: recent advances

Cited by 54 publications

References 57 publications

NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

Recent advances in smooth muscle tumors with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms

Impact of Chemotherapy in the Adjuvant Setting of Early Stage Uterine Leiomyosarcoma: A Systematic Review and Updated Meta-Analysis

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