Identification of the molecular relationship between intravenous leiomyomatosis and uterine myoma using RNA sequencing

Zhang, Xu; Wu, Liangcai; Xu, Rongjian; Zhu, Chun; Ma, Guotao; Zhang, Chaoji; Liu, Xingrong; Zhao, Haitao; Miao, Qi

doi:10.1038/s41598-018-37452-3

Cited by 18 publications

(22 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A second study described recurrent 12q14.3 rearrangements by FISH along with HMGA2 overexpression (58%, n=12) and loss of chromosome 22 in two out of three IVL analyzed by karyotyping 23 . Finally, a third study using RNA sequencing (n=5) detected HOXA13 as a distinctly upregulated gene in UL when compared to IVL or myometrium 24 . These studies suggest that IVL has unique molecular characteristics that partially overlap with both UL and ULMS akin to their intermediate clinical behavior.…”

Section: Introductionmentioning

confidence: 98%

Molecular and clinicopathologic characterization of intravenous leiomyomatosis

et al. 2020

View full text Add to dashboard Cite

Intravenous leiomyomatosis (IVL) is an unusual uterine smooth muscle proliferation that can be associated with aggressive clinical behavior despite a histologically benign appearance. It has some overlapping molecular characteristics with both uterine leiomyoma and leiomyosarcoma based on limited genetic data. In this study, we assessed the clinical and morphological characteristics of 28 IVL and their correlation with molecular features and protein expression, using array comparative genomic hybridization (aCGH) and Cyclin D1, p16, phosphorylated-Rb, SMARCB1, SOX10, CAIX, SDHB and FH immunohistochemistry. The most common morphologies were cellular (n=15), usual (n=11) and vascular (n=5; including 3 cellular IVL showing both vascular and cellular features). Among the immunohistochemical findings, the most striking was that all IVL showed differential expression of either p16 or Cyclin D1 in comparison to surrounding non-neoplastic tissue. Cytoplasmic phosphorylated-Rb was present in all but one IVL with hyalinization. SMARCB1, FH and SDHB were retained; S0X10 and CAIX were not expressed. The most common genetic alterations involved 1p (39%), 22q (36%), 2q (29%), 1q (25%), 13q (21%) and 14q (21%). Hierarchical clustering analysis of recurrent aberrations revealed 3 molecular groups: Group 1 (29%) and 2 (18%) with associated del(22q) and group 3 (18%) with del(10q). The remaining IVL had non-specific or no alterations by aCGH. Genomic index scores were calculated for all cases and showed no significant difference between the 14 IVL associated with aggressive clinical behavior (extrauterine extension or recurrence) and those without (median scores 5.15 vs 3.5). Among the 5 IVL associated with recurrence, 4 had a vascular morphology and 3 had alterations of 8q. Recurrent chromosome alterations detected herein overlap with those observed in the spectrum of uterine smooth muscle tumors and involve genes implicated in mesenchymal tumors at different sites with distinct morphological features.

show abstract

Section: Introductionmentioning

confidence: 98%

Molecular and clinicopathologic characterization of intravenous leiomyomatosis

et al. 2020

View full text Add to dashboard Cite

show abstract

“…When IVL patients present with multiple pulmonary nodules, BML diagnosis should be consider in order to avoid excessive treatment due to misdiagnosis as a malignant tumor [46] . Indication for hormonal therapy or bilateral salpingoophorectomy have to be balanced with theirs side effects and have to be consider within the overall clinical context [12] . In contrary of IVL, PBML require most of time only long term imaging follow up, without surgical indication.…”

Section: Discussionmentioning

confidence: 99%

“…Some molecular difference are observed in between uterine myoma and IVL such as dysregulation of HOXA13 - a specific gene for embryonic development and cell differentiation [12] , or MED12 mutation, which has a critical and central role in RNA polymerase II transcription [13] . A higher rate of chromosomal aberration is observed in IVL despite the fact that both share some molecular characteristics.…”

Section: Ivl: Review Of Literaturementioning

confidence: 99%

Intravenous leiomyomatosis: Case series and review of the literature

Mathey

Huber

2021

International Journal of Surgery Case Reports

View full text Add to dashboard Cite

Introduction Intravenous leiomyomatosis (ILV) is a rare pathology, part of leiomyoma beyond the uterus (LBU), characterized by benign smooth muscle cell tumor outside of the uterus and mainly affecting premenopausal woman with a medical history of leiomyoma or gynecologic surgical treatment. The treatment depends on the localization of the tumor, age of the patient, initial size, symptoms and the suitability for surgery but should always aims in toto surgical resection. Case presentation Retrospective case series and review of literature. Clinical discussion Symptoms presented by the patient were aspecific and only localized in the pelvic area. All cases were fortuitous histopathological diagnosis. No relapse was. Two out of 5 patients have pulmonary nodules, only one was biopsied and diagnosed with PBML (pulmonary benign metastasizing leiomyoma). Conclusion IVL and BML are rare disease that can co-exist. Because of tumoral hormonal receptors, hormonotherapy could be an optional treatment but to date no clear efficacy is demonstrated. In case of high recurrence risk such as voluminous initial mass, impairment of broad ligament, failure of total surgical resection, adjuvant hormonotherapy could be useful. Recurrence rate is about 16.6-30% and can occur even dozen years later and even after radical surgery, justifying a regular follow up.

show abstract

“…Uterine leiomyoma, also known as uterine fibroids, is one of the most common benign tumours in women, with 70% of affected women being of reproductive age 34 , 35 . In this study, we concluded that uterine leiomyoma might be related to maternal periodontitis.…”

Section: Discussionmentioning

confidence: 99%

Radiological screening of maternal periodontitis for predicting adverse pregnancy and neonatal outcomes

Heo

Ahn

Park

2020

Sci Rep

View full text Add to dashboard Cite

It is well known that periodontitis, diagnosed mainly by periodontal probing, is associated with adverse pregnancy outcomes. However, periodontal probing is time-consuming, highly discomforting, inaccurate, and invasive. We aimed to assess whether periodontitis severity based on radiological staging in accordance with the 2017 new consensus classification was related to adverse pregnancy and neonatal outcomes. The medical records of 165 mothers who underwent panoramic radiography within 5 years before and after the time of delivery and of their singleton neonates were retrospectively reviewed. Twenty-two mothers (13.3%) had severe periodontitis (SP), and 143 (86.7%) had mild or moderate periodontitis (MP). In relation to adverse pregnancy outcomes, uterine leiomyoma (18.2% vs. 4.2%, P = 0.029), chronic hypertension (9.1% vs. 0.7%, P = 0.047), and preeclampsia (13.6% vs. 2.1%, P = 0.032) occurred significantly more frequently in the SP group than in the MP group. The incidences of very preterm birth (13.6% vs. 1.4%, P = 0.017), extremely preterm birth (9.1% vs. 0.7%, P = 0.047), and small for gestational age (22.7% vs. 5.6%, P = 0.017) were also significantly higher in the SP group than in the MP group. Radiological screening of maternal periodontitis could be useful for predicting adverse pregnancy and neonatal outcomes as well as diagnosing SP in pregnant women.

show abstract

Identification of the molecular relationship between intravenous leiomyomatosis and uterine myoma using RNA sequencing

Cited by 18 publications

References 33 publications

Molecular and clinicopathologic characterization of intravenous leiomyomatosis

Molecular and clinicopathologic characterization of intravenous leiomyomatosis

Intravenous leiomyomatosis: Case series and review of the literature

Radiological screening of maternal periodontitis for predicting adverse pregnancy and neonatal outcomes

Contact Info

Product

Resources

About