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Pseudomyxoma peritonei leading to "jelly belly" abdomen: a case report and review of the literature.Journal of Medical Case Reports Jun 2024Pseudomyxoma peritonei is an infrequent condition with a global annual incidence of only one to two cases per million people. Mucinous neoplasms, widespread... (Review)
Review
BACKGROUND
Pseudomyxoma peritonei is an infrequent condition with a global annual incidence of only one to two cases per million people. Mucinous neoplasms, widespread intraperitoneal implants, and mucinous ascites characterize it. Currently, most clinicians misdiagnose this condition, which leads to delayed management.
CASE PRESENTATION
A 44-year-old North Indian female presented with a 1.5-month history of an abdominal lump. Physical examination revealed a sizeable abdominopelvic mass at 36 weeks. Contrast-enhanced computed tomography showed a massive multiloculated right ovarian cystic mass measuring 28 × 23 × 13 cm with mild ascites and elevated carcinoembryonic antigen levels (113.75 ng/ml). A provisional diagnosis of ovarian mucinous neoplasm was made, for which the patient underwent laparotomy. Intraoperatively, there were gross mucinous ascites, along with a large, circumscribed, ruptured right ovarian tumor filled with gelatinous material. The appendicular lump was also filled with mucinous material along with the omentum, ascending colon, right lateral aspect of the rectum, splenic surface, and small bowel mesentery. Cytoreductive surgery was performed along with an oncosurgeon, including total abdominal hysterectomy with bilateral salpingoophorectomy, omentectomy, right hemicolectomy, lower anterior resection, ileo-transverse stapled anastomosis with proximal ileal loop diversion stoma, excision of multiple peritoneal gelatinous implants, and peritoneal lavage. Histopathology and immunohistochemistry confirmed the presence of intestinal-type mucinous carcinoma. Postoperatively, the patient was given six cycles of chemotherapy. She tolerated it without any specific morbidity and had an uneventful recovery. Postoperative follow-up at 15 months revealed normal tumor marker levels and abdominal computed tomography findings and no signs suggestive of local recurrence or distal metastases.
CONCLUSIONS
Pseudomyxoma peritonei is a rare disease that is frequently misdiagnosed in the preoperative phase. Therefore, radiologists and clinicians should maintain a high index of suspicion for accurate diagnosis and multidisciplinary management.
Topics: Humans; Female; Pseudomyxoma Peritonei; Adult; Peritoneal Neoplasms; Tomography, X-Ray Computed; Cytoreduction Surgical Procedures; Ovarian Neoplasms; Ascites; Hysterectomy; Treatment Outcome
PubMed: 38937808
DOI: 10.1186/s13256-024-04612-1 -
European Journal of Surgical Oncology :... Aug 2023Pseudomyxoma peritonei (PMP) is a rare malignant disease. Adding of the Ki67 proliferation index to the PSOGI PMP classification provided two different subcategories of...
BACKGROUND
Pseudomyxoma peritonei (PMP) is a rare malignant disease. Adding of the Ki67 proliferation index to the PSOGI PMP classification provided two different subcategories of the extensive HG-PMP group (HG-PMP ≤15% and HG-PMP >15%) with different survival in a previous unicentric study. This study aims to carry out an external and multicentre validation of this new proposed classification.
METHOD
It was a prospective analysis of samples from a historical and international cohort of patients. A representative area with higher cellular density was used to determine the Ki67%. The Ki67 proliferation index (%) was determined in all the HG-PMP patients. A Cox proportional hazard models and multivariable COX models were used. The Kaplan-Meier method and the two-tailed log-rank test were used to analyse the effect of different PSOGI-Ki67 categories on OS and DFS. Its predictive accuracy was analysed using Harrel's C-index and the ROC curve. The calibration was performed using the calibration plots matching.
RESULTS
After exclusions, 349 patients were available for analysis. The 5-years OS were 86% for LG-PMP, 59% for HG-PMP≤15, 38% for HG-PMP>15 and 42% for SRC-PMP (p = 0.0001). The 5-years DFS were 49% for LG-PMP, 35% for HG-PMP≤15, 16% for HG-PMP>15 and 18% SRC-PMP (p = 0.0001). The discrimination capability of PSOGI-Ki67 was validated.
CONCLUSION
the PSOGI-Ki67 classification discriminates and predicts the OS and DFS in patients with PMP dividing the HG-PMP category into two well-defined sub-categories. The Ki67 proliferation index should be incorporated routinely in the pathology report for these patients.
Topics: Humans; Pseudomyxoma Peritonei; Ki-67 Antigen; Peritoneal Neoplasms; Prognosis; Proportional Hazards Models; Retrospective Studies
PubMed: 36935222
DOI: 10.1016/j.ejso.2023.03.206 -
Cancer Diagnosis & Prognosis 2024Pseudomyxoma peritonei (PMP) is a clinical entity of subtle onset abdominal pain, ascites, and distention associated with characteristic imaging. In most cases,...
BACKGROUND
Pseudomyxoma peritonei (PMP) is a clinical entity of subtle onset abdominal pain, ascites, and distention associated with characteristic imaging. In most cases, laparoscopic exploration will give the definitive diagnosis and histopathologic verification. However, usually there are difficulties in the diagnosis of this disease.
CASE REPORT
Herein, we present a case of a 51-year-old female who developed ascites over 5 months. An investigational laparotomy established the diagnosis of PMP, after the discovery of a mucinous, grey-brown tumor that was CK20 positive and CK7 negative. Subsequently, chemotherapy with oxaliplatin combined with 5-FU (FOLFOX4 regimen), was initiated and the patient survived for 30 months. We also present a comprehensive review of the English literature concerning the different symptoms and radiological findings of this rare entity. According to the literature review, 35 cases of PMP with different clinical and radiological findings have been described. In the majority of the cases, ultrasound, computed tomography or magnetic resonance imaging was orientating towards a proper diagnosis before a diagnostic laparotomy.
CONCLUSION
The combination of a clinical picture with the characteristic imaging findings enables a prompt diagnosis of PMP, making prognosis more favorable.
PubMed: 38434922
DOI: 10.21873/cdp.10308 -
BMJ Supportive & Palliative Care Dec 2023Parenteral nutrition in palliative care is contentious, and decisions on starting or continuing its treatment in palliative patients centre on an individual's...
Parenteral nutrition in palliative care is contentious, and decisions on starting or continuing its treatment in palliative patients centre on an individual's preference, balanced with quality of life. This case report describes the unusual onset of pain and agitation secondary to fluid retention, in a patient with metastatic pseudomyxoma peritonei, established on 2.5 L/day of parenteral nutrition. Immediate volume reduction of the parenteral nutrition to 1 L/day successfully reversed the patient's symptoms. To our knowledge, this is the first case of parenteral nutrition inducing pain and agitation in a palliative care patient. There is no specific internationally acclaimed guidance concerning parenteral nutrition content and volume in palliative patients, due to a lack of high quality studies. This case study highlights the need for further research into parenteral nutrition content and volume in palliative care, to prevent harmful effects from fluid retention, impacting on quality of life.
Topics: Humans; Palliative Medicine; Quality of Life; Parenteral Nutrition; Palliative Care; Pain
PubMed: 33771817
DOI: 10.1136/bmjspcare-2021-002991 -
European Journal of Surgical Oncology :... Nov 2023Optimal management of pseudomyxoma peritonei (PMP) is by cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC), which can achieve 20-year...
Health related quality of life is excellent and sustained at two decades after cytoreductive surgery and hyperthermic intraperitoneal chemotherapy in survivors of pseudomyxoma peritonei of appendiceal origin.
INTRODUCTION
Optimal management of pseudomyxoma peritonei (PMP) is by cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC), which can achieve 20-year disease-free, and overall survival. There is limited information on the health-related quality of life (HRQOL) of PMP survivors beyond five years. We report longitudinal HRQOL in patients with PMP of appendiceal origin up to 17-years after their CRS and HIPEC in 2003-2004.
METHODS
Patients had HRQOL assessed with EORTC QLQ-C30 questionnaires pre-operatively, and at 1-, 10- and 17-years post-operatively. Comparisons in global health-related QOL (global-HRQOL) measures were made with (1) an age- and sex-matched normal European population, (2) between patients who underwent complete cytoreduction (CRS CC0/1) versus maximal tumor debulking (MTD), and (3) between those with and without peritoneal recurrence.
RESULTS
Forty-six patients underwent CRS & HIPEC for appendiceal PMP. One patient withdrew from the study. Of the 45 patients, 23 patients were alive at ten and 15 patients at 17-years post-operatively. 21/23 (91%) and 14/15 patients (93%) completed questionnaires respectively. Pre-operatively, patients had significantly lower global-HRQOL compared with the reference population. Over follow-up, patients experienced improvements in their global-HRQOL. By post-operative year-10 and -17, there was no difference between the global-HRQOL of patients and reference population. As expected, patients with CC0/1 and without peritoneal tumor recurrence had better global-HRQOL at ten- and 17-years post-operatively compared with those with MTD or recurrence.
CONCLUSIONS
Optimal CRS and HIPEC is an effective treatment for appendiceal PMP that can achieve long-term survival. HRQOL is excellent and maintained, in those who have CC0/1 without recurrence.
Topics: Humans; Pseudomyxoma Peritonei; Cytoreduction Surgical Procedures; Hyperthermic Intraperitoneal Chemotherapy; Quality of Life; Appendiceal Neoplasms; Hyperthermia, Induced; Neoplasm Recurrence, Local; Combined Modality Therapy; Retrospective Studies
PubMed: 37677915
DOI: 10.1016/j.ejso.2023.107045 -
Cureus Oct 2023Low-grade appendiceal mucinous neoplasm (LAMN) is an uncommon tumor of the appendix that is usually diagnosed incidentally after surgery. Although LAMN may be...
BACKGROUND
Low-grade appendiceal mucinous neoplasm (LAMN) is an uncommon tumor of the appendix that is usually diagnosed incidentally after surgery. Although LAMN may be asymptomatic, it can rupture and seed mucin and neoplastic epithelium into the peritoneum, causing pseudomyxoma peritonei (PMP).
MATERIALS AND METHODS
Data from 53 patients were retrospectively analyzed. Age, sex, tumor size, margin status, peritoneal carcinomatosis index, surgical procedures, postoperative results with histologic diagnosis, T stage, recurrence, and mortality of the patients were evaluated.
RESULTS
Appendectomy was performed in 37 patients, right hemicolectomy in nine patients, cytoreductive surgery in one patient, and cytoreductive surgery and hyperthermic intraperitoneal chemotherapy in six patients. Recurrence occurred in four patients. Of the patients who developed recurrence, one patient had stage T4a disease, and the other three patients had T4b disease (p<0.001). Eighteen patients had acellular mucin in the serosa and four of these patients developed recurrence (p=0.004). Twelve patients had appendix perforation, and three of these patients had PMP on exploration (p<0.001). The mean survival time was 93.3 months in patients without recurrence and 32 months in patients with recurrence (p=0.021).
CONCLUSIONS
Low-grade appendiceal mucinous neoplasms are rare appendiceal tumors. The appropriate management of this tumor is controversial. T stage, appendix perforation, presence of acellular mucin on the serosa, and surgical margins are risk factors for the development of PMP. Appendectomy is considered sufficient when there are no risk factors for Tis (LAMN) and T3 disease. Right hemicolectomy may be sufficient if there are no risk factors for T4a disease, but cytoreductive surgery and hyperthermic intraperitoneal chemotherapy seem to be the most appropriate treatments in the presence of the stated risk factors for T4b disease.
PubMed: 37808597
DOI: 10.7759/cureus.46591 -
Health Science Reports Sep 2023The FORMA-05 study compared the efficacy and safety of human fibrinogen concentrate (HFC) versus cryoprecipitate for hemostasis in bleeding patients undergoing...
Comparison of coagulation parameters associated with fibrinogen concentrate and cryoprecipitate for treatment of bleeding in patients undergoing cytoreductive surgery for pseudomyxoma peritonei: Subanalysis from a randomized, controlled phase 2 study.
BACKGROUND AND AIMS
The FORMA-05 study compared the efficacy and safety of human fibrinogen concentrate (HFC) versus cryoprecipitate for hemostasis in bleeding patients undergoing cytoreductive surgery for pseudomyxoma peritonei (PMP). This subanalysis explores coagulation parameters in the FORMA-05 patients, with a focus on the seven patients who developed thromboembolic events (TEEs).
METHODS
FORMA-05 was a prospective, randomized, controlled phase 2 study in which patients with predicted blood loss ≥2 L received HFC (4 g) or cryoprecipitate (two pools of five units), repeated as needed. Plasma fibrinogen, platelet count, factor (F) XIII, FVIII, von Willebrand Factor (VWF) antigen and ristocetin cofactor activity levels, EXTEM A20, FIBTEM A20, and endogenous thrombin potential (ETP) were measured perioperatively.
RESULTS
Fibrinogen, platelet count, EXTEM and FIBTEM A20, FXIII, FVIII, VWF levels, and ETP were maintained throughout surgery in both the HFC group ( = 21) and the cryoprecipitate group ( = 23). Seven TEEs were observed in the cryoprecipitate group. The two patients developing deep vein thromboses (DVT) appeared to have a procoagulant status preoperatively, with distinctively higher fibrinogen level, FIBTEM A20, and platelet levels, all of which persisted perioperatively. The five patients developing pulmonary embolism (PE) had slightly higher VWF levels preoperatively, with a disproportionate increase intraoperatively (postcryoprecipitate administration) and postoperatively.
CONCLUSIONS
Patients treated with HFC versus cryoprecipitate showed broad overlaps in coagulation parameters. Patients with PE experienced a disproportionate VWF rise following cryoprecipitate administration, whereas patients developing DVT displayed a procoagulant status before and following surgery. Preoperative testing may allow these patients to be identified.
PubMed: 37766781
DOI: 10.1002/hsr2.1558 -
Annals of Surgery Open : Perspectives... Sep 2023To describe the long-term survival and clinical- and treatment-related variables that determine the outcome of repeat cytoreductive surgery (CRS) for mucinous... (Review)
Review
OBJECTIVE
To describe the long-term survival and clinical- and treatment-related variables that determine the outcome of repeat cytoreductive surgery (CRS) for mucinous appendiceal neoplasms with peritoneal dissemination.
SUMMARY BACKGROUND
After patients with peritoneal dissemination of an appendiceal mucinous neoplasm have a CRS, disease progression may require secondary cytoreductive surgery (SCRS) and other treatments performed in a timely manner to prolong survival and help preserve an optimal quality of life.
METHODS
The clinical- and treatment-related variables associated with the index CRS and the SCRS were statistically assessed for their impact on survival.
RESULTS
One hundred eighty-six of 687 complete CRS patients (27.1%) had SCRS. The median follow-up was 10 years and the median survival was 12 years. There were 95 males (51%) and the median age was 45.0 years. Survival benefit was associated with the index CRS by use of early postoperative intraperitoneal chemotherapy (EPIC) with 5-fluorouracil [Hazard ratio (HR), 0.4; = 0.0004]. Also, survival of low-grade mucinous appendiceal neoplasms versus mucinous appendiceal adenocarcinoma (HR, 2.8; < 0.0001) was improved. The interval between index CRS and SCRS was significant at ≤12 months versus 12-36 months versus >36 months ( < 0.0001). Change in peritoneal cancer index and disease distribution as focal or diffuse was significant by univariant and multivariant analyses.
CONCLUSIONS
If the CRS was complete, the use of EPIC 5-fluorouracil, the interval between the index CRS and the SCRS, the histologic grade of the mucinous neoplasm, and the extent of recurrent disease were prognostic variables that should be used to help select patients for SCRS.
PubMed: 37746617
DOI: 10.1097/AS9.0000000000000335 -
Annals of Surgical Oncology Nov 2023Appendiceal mucinous neoplasms (AMNs) with disseminated disease (pseudomyxoma peritonei) are heterogeneous tumors with variable clinicopathologic behavior. Despite the...
BACKGROUND
Appendiceal mucinous neoplasms (AMNs) with disseminated disease (pseudomyxoma peritonei) are heterogeneous tumors with variable clinicopathologic behavior. Despite the development of prognostic systems, objective biomarkers are needed to stratify patients. With the advent of next-generation sequencing (NGS), it remains unclear if molecular testing can improve the evaluation of disseminated AMN patients.
METHODS
Targeted NGS was performed for 183 patients and correlated with clinicopathologic features to include American Joint Committee on Cancer/World Health Organization (AJCC/WHO) histologic grade, peritoneal cancer index (PCI), completeness of cytoreduction (CC) score, and overall survival (OS).
RESULTS
Genomic alterations were identified for 179 (98%) disseminated AMNs. Excluding mitogen-activated protein kinase genes and GNAS due to their ubiquitous nature, collective genomic alterations in TP53, SMAD4, CDKN2A, and the mTOR genes were associated with older mean age, higher AJCC/WHO histologic grade, lymphovascular invasion, perineural invasion, regional lymph node metastasis, and lower mean PCI (p < 0.040). Patients harboring TP53, SMAD4, ATM, CDKN2A, and/or mTOR gene alterations were found to have lower OS rates of 55% at 5 years and 14% at 10 years, compared with 88% at 5 years and 88% at 10 years for patients without the aforementioned alterations (p < 0.001). Based on univariate and multivariate analyses, genomic alterations in TP53, SMAD4, ATM, CDKN2A, and/or the mTOR genes in disseminated AMNs were a negative prognostic factor for OS and independent of AJCC/WHO histologic grade, PCI, CC score, and hyperthermic intraperitoneal chemotherapy treatment (p = 0.006).
CONCLUSIONS
Targeted NGS improves the prognostic assessment of patients with disseminated AMNs and identifies patients who may require increased surveillance and/or aggressive management.
Topics: Humans; Pseudomyxoma Peritonei; Adenocarcinoma, Mucinous; Appendiceal Neoplasms; Peritoneal Neoplasms; High-Throughput Nucleotide Sequencing; TOR Serine-Threonine Kinases; Cytoreduction Surgical Procedures
PubMed: 37314541
DOI: 10.1245/s10434-023-13721-y -
Molecular Cancer Research : MCR Jan 2024Pseudomyxoma peritonei (PMP) is a rare malignant clinical syndrome with little known about the global mutation profile. In this study, whole-exome sequencing (WES) was...
UNLABELLED
Pseudomyxoma peritonei (PMP) is a rare malignant clinical syndrome with little known about the global mutation profile. In this study, whole-exome sequencing (WES) was performed in 49 appendiceal PMP to investigate mutation profiles and mutation signatures. A total of 4,020 somatic mutations were detected, with a median mutation number of 56 (1-402). Tumor mutation burden (TMB) was generally low (median 1.55 mutations/Mb, 0.12-11.26 mutations/Mb). Mutations were mainly enriched in the function of cancer-related axonogenesis, extracellular matrix-related processes, calcium signaling pathway, and cAMP signaling pathway. Mutations in FCGBP, RBFOX1, SPEG, RTK-RAS, PI3K-AKT, and focal adhesion pathways were associated with high-grade mucinous carcinoma peritonei. These findings revealed distinct mutation profile in appendiceal PMP. Ten mutation signatures were identified, dividing patients into mutation signature cluster (MSC) 1 (N = 28, 57.1%) and MSC 2 (N = 21, 42.9%) groups. MSC (P = 0.007) was one of the four independent factors associated with 3-year survival. TMB (P = 0.003) and microsatellite instability (P = 0.002) were independent factors associated with MSC 2 grouping. Taken together, our findings provided a broader view in the understanding of molecular pathologic mechanism in appendiceal PMP and may be critical to developing an individualized approach to appendiceal PMP treatment.
IMPLICATIONS
This work describes exhaustive mutation profile of PMP based on WES data and derives ten mutation signatures, which divides patients into two clusters and serve as an independent prognostic factor associated with 3-year survival.
Topics: Humans; Pseudomyxoma Peritonei; Peritoneal Neoplasms; Exome Sequencing; Phosphatidylinositol 3-Kinases; Mutation; Biomarkers, Tumor
PubMed: 37768171
DOI: 10.1158/1541-7786.MCR-22-0801