Association of FPGS genetic polymorphisms with primary retroperitoneal liposarcoma

Miao, Changxing; Liu, Ding; Zhang, Feng; Wang, Youxin; Zhang, Yanbin; Yu, Ji Hee; Zhang, Zhanzhi; Liu, Gang; Li, Bing; Liu, Xing; Luo, Chenghua

doi:10.1038/srep09079

Cited by 9 publications

(8 citation statements)

References 20 publications

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“…Following complete resection of primary retroperitoneal liposarcoma, 50% of welldifferentiated and 80% of dedifferentiated tumors recur within 5 years (30,31). Miao et al reported an association of folylpolyglutamate synthetase (FPGS) rs10760502 polymorphism with increased risk for primary retroperitoneal liposarcoma, and suggested that folate supplementation might be useful in decreasing tumorigenesis and preventing postoperative tumor recurrence (32).…”

Section: Discussionmentioning

confidence: 99%

Surgical Diagnosis and Treatment of Primary Retroperitoneal Liposarcoma

et al. 2021

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Background: Primary retroperitoneal liposarcoma (PRPLS) is the most common soft tissue sarcoma of the retroperitoneum with high recurrence rate and short overall survival (OS).Methods: A retrospective review of 51 patients with PRPLS, treated between September 1, 2009 and November 30, 2020, was conducted to evaluate clinical outcomes of PRPLS resection. Patient demographics, histopathologic subtypes, overall survival (OS), progression-free survival (PFS), disease recurrence rate, and tumor stage were reviewed and analyzed. Univariate analysis was done to identify factors potentially affecting OS and PFS of PRPLS patients. Multivariate Cox proportional hazards analysis was used to evaluate the impact of various clinicopathological factors on OS and PFS of PRPLS patients.Results: Fifty-one PRPLS patients (28 Males, 23 Females; mean age 56.25 years) were evaluated. There was no significant effect of age, gender, contiguous organ resection, degree of differentiation and tumor size on the OS and PFS of the patients. Univariate analysis showed that negative surgical margin and early tumor stage significantly correlated with OS and PFS (all P < 0.001). Multivariate analysis showed that tumor stage [hazard ratio (HR) = 1.177, P = 0.001] was an independent predictors of poor progression-free survival, and surgical margins [HR = 4.0674 P = 0.038] and tumor stage [HR = 1.167 P = 0.001] were identified as independent predictors of poor overall survival.Conclusion: Negative surgical margin is a prognostic factor of OS, and can prolong the postoperative survival time of PRPLS patients. Tumor stage is a prognostic factor for OS and PFS, and can influence the survival of PRPLS patients. Earlier tumor stages of PRPLS are associated with significantly better outcomes.

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Section: Discussionmentioning

confidence: 99%

Surgical Diagnosis and Treatment of Primary Retroperitoneal Liposarcoma

et al. 2021

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“…During muscle denervation IGFN1 is substantially upregulated leading to the down-regulation of protein synthesis via eEF1A interaction [ 1 ]. In Chinese population, IGFN1 is associated with susceptibility to Primary retroperitoneal liposarcoma [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Novel splicing in IGFN1 intron 15 and role of stable G-quadruplex in the regulation of splicing in renal cell carcinoma

Verma

Das

2018

PLoS ONE

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The IGFN1 (Immunoglobulin-Like And Fibronectin Type III Domain Containing 1) gene has a role in skeletal muscle function and is also involved in metastatic breast cancer, and the isoforms with three N-terminal globular domains are sufficient for its function in skeletal muscle. Two novel splicing isoforms of IGFN1 have been identified in renal cell carcinoma (RCC), one with 5’exon extension and an isoform with a novel exon. The role of G-quadruplex, a non-B DNA, was explored for the splicing alteration of IGFN1 in RCC. G-quadruplexes are the secondary structures acquired by stacking of G-quartets by Hoogsteen hydrogen bonding in DNA and RNA. IGFN1 has intronic potential G-quadruplex forming sequence (PQS) folding into G-quadruplex and is studied for its involvement in aberrant splicing. A PQS in the intron 15 of IGFN1 gene was observed in our in silico analysis by QGRS mapper and non BdB web servers. We observed PQS folds into stable G-quadruplex structure in gel shift assay and circular dichroism (CD) spectroscopy in the presence of G-quadruplex stabilizing agents Pyridostatin (PDS) and KCl, respectively. G-quadruplex formation site with single base resolution was mapped by Sanger sequencing of the plasmid constructs harbouring the cloned PQS and its mutant. This stable G-quadruplex inhibits reverse transcriptase and taq polymerase in reverse transcriptase & PCR stop assays. PDS changes the different splicing isoforms of IGFN1 in UOK146 cell line, displaying involvement of intronic G-quadruplex in IGFN1 splicing. These results lead us to propose that a stable G-quadruplex structure is formed in IGFN1 intron and a reason behind IGFN1 aberrant splicing which could be targeted for therapeutic intervention.

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“…With basic and clinical research, some promising research results and treatment models have emerged. Systemic treatment methods, such as chemotherapy, molecular targeted therapy and immunotherapy ( 24 ) and radiotherapy ( 25 ) have been applied in clinical practice. Radiotherapy exerts significantly different effects on various pathological types of RPLS and may improve local control of patients with WDLPS and G1-2 DDLPS ( 4 ).…”

Section: Discussionmentioning

confidence: 99%

Survival of a patient with five recurrences of retroperitoneal liposarcoma over a period of 13 years: A case report and review

2023

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Retroperitoneal liposarcoma (RPLS) is a rare tumor that occurs in the retroperitoneal region and accounts for ~0.2% of all malignant tumor incidence. The present study describes the treatment of a surviving patient with RPLS that recurred five times in 13 years. This case has a long survival time and numerous relapses, which is a rare occurrence. The 40-year-old female patient was admitted to Shaoxing Second Hospital (Shaoxing, China) with an abdominal mass. Abdominal computed tomography (CT) scan revealed multiple liposarcoma recurrences in the abdominal, pelvic and retroperitoneal areas. As the diagnosis of RPLS was the fifth recurrence, cytoreductive surgery was performed and post-operative pathology suggested mixed liposarcoma. The patient underwent six cycles of doxorubicin and ifosfamide regimen chemotherapy and targeted therapy with anlotinib following surgery; no evidence of disease progression was found on abdominal CT scan during follow-up. The present study also reviewed the literature in terms of the clinical diagnosis, treatment, pathological characteristics and similar cases of liposarcoma with the aim of improving diagnosis and treatment.

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Association of FPGS genetic polymorphisms with primary retroperitoneal liposarcoma

Cited by 9 publications

References 20 publications

Surgical Diagnosis and Treatment of Primary Retroperitoneal Liposarcoma

Surgical Diagnosis and Treatment of Primary Retroperitoneal Liposarcoma

Novel splicing in IGFN1 intron 15 and role of stable G-quadruplex in the regulation of splicing in renal cell carcinoma

Survival of a patient with five recurrences of retroperitoneal liposarcoma over a period of 13 years: A case report and review

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