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Journal of Cancer Research and Clinical... Sep 2020Pseudomyxoma peritonei (PMP) is a rare clinical malignancy syndrome characterized by the uncontrollable accumulation of copious mucinous ascites in the peritoneal... (Review)
Review
PURPOSE
Pseudomyxoma peritonei (PMP) is a rare clinical malignancy syndrome characterized by the uncontrollable accumulation of copious mucinous ascites in the peritoneal cavity, resulting in "jelly belly". The mechanism of tumor progression and mucin hypersecretion remains largely unknown, but GNAS mutation is a promising contributor. This review is to systemically summarize the biological background and variant features of GNAS, as well as the impacts of GNAS mutations on mucin expression, tumor cell proliferation, clinical-pathological characteristics, and prognosis of PMP.
METHODS
NCBI PubMed database (in English) and WAN FANG DATA (in Chinese) were used for literature search. And NCBI Gene and Protein databases, Ensembl Genome Browser, COSMIC, UniProt, and RCSB PDB database were used for gene and protein review.
RESULTS
GNAS encodes guanine nucleotide-binding protein α subunit (Gsα). The mutation sites of GNAS mutation in PMP are relatively stable, usually at Chr20: 57,484,420 (base pair: C-G) and Chr20: 57,484,421 (base pair: G-C). Typical GNAS mutation results in the reduction of GTP enzyme activity in Gsα, causing failure to hydrolyze GTP and release phosphoric acid, and eventually the continuous binding of GTP to Gsα. The activated Gsα could thus continuously promote mucin secretion through stimulating the cAMP-PKA signaling pathway, which is a possible mechanism leading to elevated mucin secretion in PMP.
CONCLUSION
GNAS mutation is one of the most important molecular biological features in PMP, with major functions to promote mucin hypersecretion.
Topics: Biomarkers, Tumor; Cell Proliferation; Chromogranins; GTP-Binding Protein alpha Subunits, Gs; Humans; Mucins; Mutation; Peritoneal Neoplasms; Prognosis; Pseudomyxoma Peritonei; Signal Transduction
PubMed: 32700107
DOI: 10.1007/s00432-020-03321-8 -
Cleveland Clinic Journal of Medicine Sep 2022
Topics: Humans; Pseudomyxoma Peritonei; Ascites; Peritoneal Neoplasms
PubMed: 37907443
DOI: 10.3949/ccjm.89a.21086 -
American Journal of Cancer Research 2023Mucins are a significant extracellular component of neoplastic entities such as pseudomyxoma peritonei and several gastrointestinal adenocarcinomas. Mucinous tumours... (Review)
Review
Mucins are a significant extracellular component of neoplastic entities such as pseudomyxoma peritonei and several gastrointestinal adenocarcinomas. Mucinous tumours present a challenge for systemic treatments due to poor drug penetrance and increased resistance. Therefore, the development of an effective mucolytic therapy has significant therapeutic implications for these tumour types. BromAc is a novel mucolytic agent consisting of bromelain and acetylcysteine. It has demonstrated significant mucolysis and antitumour effects and for several mucinous tumours. It has also exhibited a synergistic potentiation of the effect of several cytotoxic agents on mucinous tumours in preclinical studies. Furthermore, it demonstrates locoregional safety and efficacy in animal and clinical studies. This literature review will summarise the history of BromAc for mucinous tumours, including its conception, preclinical development and , and clinical evidence. The implications of current data and directions for future research are then discussed.
PubMed: 37168359
DOI: No ID Found -
Archivos Espanoles de Urologia Mar 2018We present the case of a patient incidentally diagnosed with a pelvic mass next to the bladder. After surgical excision, definitive diagnosis was pseudomyxoma peritonei.... (Review)
Review
OBJECTIVE
We present the case of a patient incidentally diagnosed with a pelvic mass next to the bladder. After surgical excision, definitive diagnosis was pseudomyxoma peritonei. We provide a concise review of the literature of this pathology.
METHODS
A 55 year-old male patient, was found to have, in annual routine ultrasound, a pelvic retrovesical mass. CT guided needle aspirate showed a tumor with myxoid changes and low aggressive cytology. Surgical excision was performed.
RESULTS
The excised mass contained the cecal appendix and ileal serosa. Pathology report was: mucinous cystadenoma of the appendix and pseudomyxoma peritonei.
CONCLUSIONS
PMP is a local-regional disease within the abdomen, characterized by a mucinous tumor (mucocele) that produces a progressive amount of mucinous ascites, which eventually blows-out, and tumor cells are spread through the peritoneal cavity. Treatment options differ significantly, depending the stage of the disease.
Topics: Humans; Male; Middle Aged; Peritoneal Neoplasms; Pseudomyxoma Peritonei
PubMed: 29521268
DOI: No ID Found -
Annals of Surgery Aug 1932
PubMed: 17866816
DOI: 10.1097/00000658-193208000-00009 -
Frontiers in Oncology 2023Pseudomyxoma peritonei (PMP) is a rare malignant disease characterized by a massive multifocal accumulation of mucin within the peritoneal cavity. The current treatment...
INTRODUCTION
Pseudomyxoma peritonei (PMP) is a rare malignant disease characterized by a massive multifocal accumulation of mucin within the peritoneal cavity. The current treatment option is based on complete cytoreductive surgery combined with hyperthermic intraperitoneal chemotherapy. However, the recurrence is frequent with subsequent progression and death. To date, most of the studies published in PMP are related to histological and genomic analyses. Thus, the need for further studies unveiling the underlying PMP molecular mechanisms is urgent. In this regard, hypoxia and oxidative stress have been extensively related to tumoral pathologies, although their contribution to PMP has not been elucidated.
METHODS
In this manuscript, we have evaluated, for the first time, the intratumoral real-time oxygen microtension (pO2mt) in the tumor (soft and hard mucin) and surrounding healthy tissue from five PMP patients during surgery. In addition, we measured hypoxia (Hypoxia Inducible Factor-1a; HIF-1α) and oxidative stress (catalase; CAT) markers in soft and hard mucin from the same five PMP patient samples and in five control samples.
RESULTS
The results showed low intratumoral oxygen levels, which were associated with increased HIF-1α protein levels, suggesting the presence of a hypoxic environment in these tumors. We also found a significant reduction in CAT activity levels in soft and hard mucin compared with healthy tissue samples.
DISCUSSION
In conclusion, our study provides the first evidence of low intratumoral oxygen levels in PMP patients associated with hypoxia and oxidative stress markers. However, further investigation is required to understand the potential role of oxidative stress in PMP in order to find new therapeutic strategies.
PubMed: 36776312
DOI: 10.3389/fonc.2023.1076500 -
Journal of Family Medicine and Primary... Dec 2020Mucocele of the appendix is a very rare disease entity that often discovered incidentally during surgery. It can result from both non-neoplastic and neoplastic lesions... (Review)
Review
Mucocele of the appendix is a very rare disease entity that often discovered incidentally during surgery. It can result from both non-neoplastic and neoplastic lesions and histopathological examination is needed for confirmation. Failure to make an early preoperative diagnosis may results in its rapture and spillage of mucin contents into the peritoneal cavity leading to a disastrous complication of pseudomyxoma peritonei (PMP) that has a very bad prognosis. A clear pathological terminology and management strategies of appendiceal mucocele (AM) is lacking. This literature review aims to derive detailed information related to clinical significance of AM to avoid complication of PMP and plan appropriately during surgery according to the current evidence. The relevant articles from scientific databases such as Medline, PubMed, Google Scholar were searched and extracted using the keywords "mucocele appendix" "cystadenoma%". Data based on epidemiology, clinical manifestations, complications, pathology, diagnostic work up and management were analyzed and summarized. A meticulous surgical excision is the mainstay of treatment and open surgical approach is still preferred over laparoscopy. Preoperative diagnosis of AM is very imperative as it may harbour neoplasm and can be made utilising the imaging tools like computed tomography and ultrasonography. Primary care physicians can have a crucial role in making early detection and timely referral for appropriate management in order to avoid complications. After appendectomy, 5-year survival rate for the simple AM is 91%-100% but it reduces to 25% for the malignant AM.
PubMed: 33681010
DOI: 10.4103/jfmpc.jfmpc_1547_20 -
Indian Journal of Surgical Oncology Jun 2023To report a case series of patients with pseudomyxoma peritonei (PMP) from urachal mucinous neoplasm (UMN) treated with CRS and HIPEC at a high-volume referral centre,...
UNLABELLED
To report a case series of patients with pseudomyxoma peritonei (PMP) from urachal mucinous neoplasm (UMN) treated with CRS and HIPEC at a high-volume referral centre, along with an updated literature review. Retrospective review of cases treated between 2000 and 2021. A literature review using MEDLINE and Google Scholar databases was performed. Clinical presentation of PMP from UMN is heterogeneous, and common symptoms are abdominal distension, weight loss, fatigue and haematuria. At least one tumour marker among CEA, CA 19.9, and CA 125 was elevated in the six cases reported, and 5/6 had a preoperative working diagnosis of urachal mucinous neoplasm suspected on detailed cross-sectional imaging. Complete cytoreduction was achieved in five cases, while one patient underwent maximal tumour debulking. Histological findings mirrored the findings of PMP from appendiceal mucinous neoplasms (AMN). Overall survival ranged between 43 and 141 months after complete cytoreduction. On literature review, 76 cases have been reported to date. Complete cytoreduction is associated with good prognosis for patients with PMP from UMN. A definitive classification system is still not available.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s13193-022-01694-5.
PubMed: 37359937
DOI: 10.1007/s13193-022-01694-5 -
Radiologia Brasileira 2022Mucoceles of the appendix are rare and can have quite variable imaging and clinical presentations, sometimes mimicking an adnexal mass. The underlying cause can be...
Mucoceles of the appendix are rare and can have quite variable imaging and clinical presentations, sometimes mimicking an adnexal mass. The underlying cause can be neoplastic or non-neoplastic. The typical imaging appearance of a mucocele of the appendix is that of a cystic structure with a tubular morphology. This structure is defined by having a blind-ending and being contiguous with the cecum. Radiologists should be familiar with key anatomical landmarks and with the various imaging features of mucoceles of the appendix, in order to provide a meaningful differential diagnosis of a lesion in the right lower abdominal quadrant. In addition, a neoplastic mucocele can rupture, resulting in pseudomyxoma peritonei, which will change the prognosis dramatically. Therefore, prompt diagnostic imaging is crucial.
PubMed: 35795599
DOI: 10.1590/0100-3984.2021.0075 -
Surgical Oncology Clinics of North... Jul 2018The early symptoms of appendiceal cancer may mimic the clinical picture of appendicitis. Most patients are diagnosed incidentally during surgical exploration or late... (Review)
Review
The early symptoms of appendiceal cancer may mimic the clinical picture of appendicitis. Most patients are diagnosed incidentally during surgical exploration or late when peritoneal or systemic dissemination has already occurred, as colonoscopy rarely will diagnose an appendiceal cancer. Systemic/extraperitoneal metastases are distinctly unusual for appendiceal mucinous lesions.
Topics: Appendiceal Neoplasms; Combined Modality Therapy; Humans; Peritoneal Neoplasms; Treatment Outcome
PubMed: 29935689
DOI: 10.1016/j.soc.2018.02.007