scholarly journals Uterine leiomyoma with fumarate hydratase deficiency

Medicine ◽  
2021 ◽  
Vol 100 (49) ◽  
pp. e28142
Author(s):  
Yan Huang ◽  
Yan Zhou ◽  
Xing Chen ◽  
Qin Fang ◽  
Huiran Cai ◽  
...  
Keyword(s):  
Uterine Leiomyoma ◽  
Fumarate Hydratase

38. Fumarate hydratase-deficient uterine leiomyoma – Case report and literature review

Pathology ◽  
2019 ◽  
Vol 51 ◽  
pp. S159-S160
Author(s):  
S. Nair ◽  
A.J. Gill ◽  
N. Dhupar ◽  
S. Samra
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Uterine Leiomyoma ◽  
Fumarate Hydratase

An Unusual Presentation of a Cervical Paraspinal Leiomyoma in an Adolescent Female

2017 ◽  
Vol 21 (3) ◽  
pp. 335-340 ◽  
Author(s):  
Jeffrey A Swarz ◽  
Arayamparambil C Anilkumar ◽  
Douglas C Miller ◽  
N Scott Litofsky ◽  
Tomoko Tanaka
Keyword(s):  
Uterine Leiomyoma ◽  
Histopathological Examination ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Unique Case ◽  
Li Fraumeni Syndrome ◽  
Neurology Clinic ◽  
Benign Leiomyoma ◽  
Abnormal Head ◽  
Testing And Counseling

Objective We describe an apparently unique case of an extra-uterine leiomyoma in the cervical paraspinal tissue including its evaluation and management. Methods A 14-year-old girl was referred to the neurology clinic for an abnormal head CT following a concussion. MRI revealed a homogenously enhancing left cervical paraspinal mass. The patient underwent complete resection and subsequent genetic testing and counseling were obtained to determine the presence of Li–Fraumeni Syndrome (LFS) or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) mutations. Result Histopathological examination proved that the tumor was a benign leiomyoma. Genomic testing for Fumarate Hydratase Gene, HLRCC, TP53 mutations or deletions, and LFS sequencing were negative. Further testing showed no immunosuppression. Conclusions To the best of our knowledge, this is the only case of paraspinal leiomyoma to have been reported to date. We emphasize the importance of considering immunosuppression, LFS, or HLRCC as an underlying cause in extra-uterine leiomyata.

scholarly journals Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Hong Lee ◽  
Saman Shafiezadeh ◽  
Rajeev Singh
Keyword(s):  
Renal Cell Carcinoma ◽  
Uterine Leiomyoma ◽  
Fumarate Hydratase ◽  
Total Abdominal Hysterectomy ◽  
Abdominal Hysterectomy ◽  
Uterine Leiomyosarcoma ◽  
Rare Entity ◽  
Surgical Innovation ◽  
Final Histology ◽  
Hereditary Leiomyomatosis

Abstract We report a case of a 47-year-old female, with strong preoperative clinical and radiological suspicious of uterine leiomyosarcoma who underwent a total abdominal hysterectomy. Despite the final histology concluded as benign uterine leiomyoma, the loss of fumarate hydratase expression of the same specimen still put her at risk of having hereditary leiomyomatosis and renal cell carcinoma syndrome. Intraoperatively, an obstetric vacuum cup was used for uterine manipulation to avoid breaching of the uterine serosa.

scholarly journals Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval

2015 ◽  
Vol 22 (4) ◽  
pp. 633-643
Author(s):  
Brahim Aissani ◽  
Kui Zhang ◽  
Arjen R Mensenkamp ◽  
Fred H Menko ◽  
Howard W Wiener
Keyword(s):  
Uterine Leiomyoma ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Genomic Region ◽  
Gene Profiling ◽  
Missense Mutations ◽  
Cancer Syndrome ◽  
Protein Coding ◽  
Lncrna Locus ◽  
Meta Analyses

Mutations in fumarate hydratase (FH) on chromosome 1q43 cause a rare cancer syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC), but are rare in nonsyndromic and common uterine leiomyoma (UL) or fibroids. Studies suggested that variants in FH or in a linked gene may also predispose to UL. We re-sequenced 2.3 Mb of DNA spanning FH in 96 UL cases and controls from the multiethnic NIEHS-uterine fibroid study, and in 18 HLRCC-associated UL probands from European families then selected 221 informative SNPs for follow-up genotyping. We report promising susceptibility associations with UL peaking at rs78220092 (P=7.0×10−5) in the RGS7-FH interval in African Americans. In race-combined analyses and in meta-analyses (n=916), we identified promising associations with risk peaking upstream of a non-protein coding RNA (lncRNA) locus located in the RGS7-FH interval closer to RGS7, and associations with tumor size peaking in the distal phospholipase D family, member 5 (PLD5) gene at rs2654879 (P=1.7×10−4). We corroborated previously reported FH mutations in nine out of the 18 HLRCC-associated UL cases and identified two missense mutations in FH in only two nonsyndromic UL cases and one control. Our fine association mapping and integration of existing gene profiling data showing upregulated expression of the lncRNA and downregulation of PLD5 in fibroids, as compared to matched myometrium, suggest a potential role of this genomic region in UL pathogenesis. While the identified variations at 1q43 represent a potential risk locus for UL, future replication analyses are required to substantiate our observation.

Morphological features of endo- and myometrium in patients with uterine leiomyoma and infertility

2020 ◽  
pp. 33-37
Author(s):  
M.A. Flaksenberg ◽  
◽  
Keyword(s):  
Uterine Leiomyoma ◽  
Negative Impact ◽  
Reproductive Function ◽  
Cell Types ◽  
Underlying Disease ◽  
Reproductive Organs ◽  
Pathological Process ◽  
Simple Type ◽  
Morphological Examination ◽  
Blastocyst Implantation

The objective: determination of morphofunctional features of leiomatous nodes and endometrium in women with uterine leiomyoma and infertility to restore reproductive function and prevent recurrence of the underlying disease. Materials and methods. In order to restore reproductive function and prevent recurrence of the underlying disease, morphofunctional features of leiomatous nodes and endometrium in women with uterine leiomyoma and infertility were determined. Thirty samples of leiomyomatous nodes and endometrium were examined, among which 15 were obtained from women with multiple uterine leiomyoma and infertility and 15 samples from women with uterine leiomyoma with isolated uterine leiomyoma. During the study, a general-histological method was used for staining with hematoxylin-eosin and picrofuxin by van Gizon, as well as immunohistochemical methods. Histological examination of the endometrium was performed according to conventional protocol, taking into account the day of the menstrual cycle and R.W. Noyes criteria. Results. In the morphological examination of leiomyomatous nodes in the vast majority of cases the presence of uterine leiomyomas of simple and cell types or their combination was established. In women with multiple uterine leiomyoma, simple-type leiomyoma (53.3%) was predominant, and in patients with isolated leiomyoma the signs of cellular uterine leiomyoma (66.7%) were more frequently found. In 80.0% of women with uterine leiomyoma revealed pathology of the endometrium, such as glandular and glandular-fibrous polyps, simple and complex atypical endometrial hyperplasia, which confirms the theory about the only pathogenetic mechanisms of the emergence of hyperplastic processes of female organs. In 66.7% of women with multiple leiomyomas, signs of chronic endometritis have been found, which exacerbates the pathological process and can have a negative impact on the reproductive function, such as secretory endometrial transformation and impaired blastocyst implantation, and explains a much higher percentage of infertility in the group. Conclusion. In women with impaired reproductive function, patients with uterine leiomyoma, it is necessary to conduct a study of the receptivity of the reproductive organs, namely - the endometrium and leiomatous nodes. This will make it possible to use one or another method of treatment in order to restore reproductive function and prevent recurrence of the underlying disease. Keywords: infertility, uterine leiomyoma, endometrium, receptive apparatus.

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