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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 -
Archives of Pathology & Laboratory... Dec 2022High-grade appendiceal mucinous neoplasm (HAMN) is a relatively recently introduced term describing a rare epithelial neoplasm of the appendix that demonstrates...
CONTEXT.—
High-grade appendiceal mucinous neoplasm (HAMN) is a relatively recently introduced term describing a rare epithelial neoplasm of the appendix that demonstrates pushing-type invasion but high-grade cytologic atypia. It remains understudied.
OBJECTIVE.—
To describe clinicopathologic features of HAMNs.
DESIGN.—
We identified 35 HAMNs in a multi-institutional retrospective study. Clinical and histologic features were reviewed in all cases, as well as molecular features in 8 cases.
RESULTS.—
Patients were 57 years of age on average and most commonly presented with abdominal/pelvic pain. Histologically, 57% of the tumors showed widespread high-grade features. Architectural patterns in high-grade areas included flat, undulating, or villous growth, and occasionally micropapillary, cribriform, or multilayered growth. Thirteen cases had intact serosa, and the remaining 22 perforated the serosa, including 7 with peritoneal acellular mucin beyond appendiceal serosa and 10 with grade 2 pseudomyxoma peritonei. Molecular abnormalities included KRAS mutations in 7 cases and TP53 mutations in 4. No tumor confined to the appendix recurred. Two patients without pseudomyxoma peritonei at initial presentation developed pseudomyxoma on follow-up. Among 11 patients who presented with pseudomyxoma peritonei, 5 died of disease and 3 were alive with disease at last follow-up.
CONCLUSIONS.—
HAMNs have a similar presentation to low-grade appendiceal mucinous neoplasm, and similar stage-based prognosis. When they spread to the peritoneum, they typically produce grade 2 pseudomyxoma peritonei, which may be associated with a worse prognosis than classical grade 1 pseudomyxoma peritonei.
Topics: Humans; Pseudomyxoma Peritonei; Retrospective Studies; Peritoneal Neoplasms; Neoplasm Recurrence, Local; Appendiceal Neoplasms
PubMed: 35472721
DOI: 10.5858/arpa.2021-0430-OA -
International Journal of Surgery Case... May 2022Mucinous cystadenoma occurs in 10-15% of all ovarian tumors. Diagnosis and treatment should be decided precisely as it has a chance to develop into pseudomyxoma...
INTRODUCTION AND IMPORTANCE
Mucinous cystadenoma occurs in 10-15% of all ovarian tumors. Diagnosis and treatment should be decided precisely as it has a chance to develop into pseudomyxoma peritonei (PMP). Management of PMP might be challenging especially when repeated surgery is needed.
CASE PRESENTATION
The first case, a 22-year-old lady with recurrent stomach enlargement for seven months. She had history of laparotomy surgery due to an ovarian tumor. Whole abdomen contrast CT scan showed a large cyst with mucinous fluid. We decided to do re-laparotomy and found a left ovarian cyst. Histological examination results confirm ovarian mucinous cystadenoma. The second case was, 55-year-old woman, with abdominal enlargement for six months. She had a history of laparotomy and chemotherapy due to pseudomyxoma peritonei. Post chemotherapy MRI showed persistent pseudomyxoma and two multilocular cysts from both adnexa. Debulking laparotomy was then conducted. We obtained 8 L of mucinous pseudomyxoma along with mucinous cyst from both ovaries. The final diagnosis concluded as a pseudomyxoma and we decide to close the follow-up of the patient.
CLINICAL DISCUSSION
Pseudomyxoma is caused by the production of mucin originating from intra-abdominal organs. Open surgery should be prioritized when the mucinous cystadenoma is detected to do a complete peritoneum evaluation and avoid perioperatively ruptured mucinous neoplasm. Pseudomyxoma often needed repeated surgical treatment and may exhibit different surgical findings and different pathologies.
CONCLUSION
Repeated surgery is logical and still no need for adjuvant chemotherapy in both cases. Accurate and precise diagnosis should be prioritized in order to prevent repeated surgery.
PubMed: 35658307
DOI: 10.1016/j.ijscr.2022.107141 -
Pleura and Peritoneum Sep 2020
PubMed: 33364339
DOI: 10.1515/pp-2020-0119 -
International Journal of Molecular... Nov 2020The mechanisms by which neoplastic cells disseminate from the primary tumor to metastatic sites, so-called metastatic organotropism, remain poorly understood.... (Review)
Review
The mechanisms by which neoplastic cells disseminate from the primary tumor to metastatic sites, so-called metastatic organotropism, remain poorly understood. Epithelial-mesenchymal transition (EMT) plays a role in cancer development and progression by converting static epithelial cells into the migratory and microenvironment-interacting mesenchymal cells, and by the modulation of chemoresistance and stemness of tumor cells. Several findings highlight that pathways involved in EMT and its reverse process (mesenchymal-epithelial transition, MET), now collectively called epithelial-mesenchymal plasticity (EMP), play a role in peritoneal metastases. So far, the relevance of factors linked to EMP in a unique peritoneal malignancy such as pseudomyxoma peritonei (PMP) has not been fully elucidated. In this review, we focus on the role of epithelial-mesenchymal dynamics in the metastatic process involving mucinous neoplastic dissemination in the peritoneum. In particular, we discuss the role of expression profiles and phenotypic transitions found in PMP in light of the recent concept of EMP. A better understanding of EMP-associated mechanisms driving peritoneal metastasis will help to provide a more targeted approach for PMP patients selected for locoregional interventions involving cytoreductive surgery and hyperthermic intraperitoneal chemotherapy.
Topics: Animals; Biomarkers; Cell Plasticity; Disease Management; Disease Susceptibility; Epithelial-Mesenchymal Transition; Humans; Osteogenesis; Peritoneal Neoplasms; Pseudomyxoma Peritonei
PubMed: 33266161
DOI: 10.3390/ijms21239120 -
JAMA Surgery May 2023Pseudomyxoma peritoni, a rare condition characterized by mucinous ascites and peritoneal deposits, mainly originates from a ruptured mucinous appendix tumor and is...
Development and Validation of Nomograms to Predict Survival in Patients Undergoing Complete Cytoreduction and Hyperthermic Intraperitoneal Chemotherapy for Pseudomyxoma Peritonei of Appendiceal Origin.
IMPORTANCE
Pseudomyxoma peritoni, a rare condition characterized by mucinous ascites and peritoneal deposits, mainly originates from a ruptured mucinous appendix tumor and is considered an indolent disease but can progress and become fatal. Optimal treatment to improve cure and survival rates involves complete cytoreductive surgery (CCRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). Accurate predictive models are useful in supporting and informing treatment strategies and stratifying patient follow-up.
OBJECTIVE
To evaluate the prognostic significance of clinically important variables and generate validated nomograms to predict overall (OS) and disease-free survival (DFS) following CCRS and hyperthermic intraperitoneal HIPEC for pseudomyxoma peritonei (PMP) of appendiceal origin.
DESIGN, SETTING, AND PARTICIPANTS
This retrospective study used prospectively collected data on patients who had cytoreductive surgery (CRS) and HIPEC in a single institution between 1994 and 2018. The cohort was randomly allocated into development (70%) and validation (30%) sets. Univariate and multivariate analyses were performed with Cox proportional hazards regression.
MAIN OUTCOMES AND MEASURES
A prediction model was developed with significant prognostic factors identified by multivariate analysis. The model's prognostic performance was evaluated with the concordance index (C index). The nomogram was calibrated by comparing the predicted and observed probabilities.
RESULTS
Of 2637 CRS and HIPEC operations, 1102 patients (female, 64.4%; median age [IQR], 57.0 [48.0-66.0] years) (41.8%) had CCRS for PMP of appendiceal origin. Elevated tumor markers, peritoneal carcinomatosis index, gastrectomy, and tumor grade were independent predictive factors for DFS. Gender, age, elevated tumor makers, peritoneal carcinomatosis index, and tumor grade influenced OS. The nomograms were generated with respective prognostic factors. The nomograms showed good performance in predicting survival. Median OS of the cohort was 16.5 years (95% CI, 13.7-19.2) with a 5-year probability of survival of 80.2%. The median DFS was 10.3 years (95% CI, 7.2- 13.3) and the 5-year probability of recurrence-free survival was 60.5%.
CONCLUSIONS AND RELEVANCE
Clinically important independent predictors for survival and recurrence were selected to develop the nomograms for OS and DFS. These 2 nomograms are user friendly and useful tools for patient management with clinical trial design applications.
Topics: Humans; Female; Middle Aged; Pseudomyxoma Peritonei; Prognosis; Hyperthermic Intraperitoneal Chemotherapy; Nomograms; Cytoreduction Surgical Procedures; Peritoneal Neoplasms; Retrospective Studies; Treatment Outcome; Hyperthermia, Induced; Appendiceal Neoplasms; Combined Modality Therapy
PubMed: 36920381
DOI: 10.1001/jamasurg.2023.0112 -
Frontiers in Surgery 2021Pseudomyxoma peritonei (PMP) originating from appendiceal mucinous neoplasm is a rare peritoneal malignancy characterized by the progressive intraperitoneal...
Pseudomyxoma peritonei (PMP) originating from appendiceal mucinous neoplasm is a rare peritoneal malignancy characterized by the progressive intraperitoneal accumulation of mucus leading to death if left untreated. In recent years, cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) offered increased survival rates. This study aims to identify the clinical, pathological, and surgical features influencing safety and survival outcomes of patients undergoing CRS and HIPEC for PMP of appendiceal origin. A retrospective analysis of all patients undergoing CRS and HIPEC for PMP of appendiceal origin from January 2015 to May 2019 was conducted at our institution. Study population included 50 patients (74% female, 26% male). The median age at CRS was 60 (38-84). The median peritoneal cancer index (PCI) was 17. Complete cytoreductive surgery (CC 0-1) was achieved in 47 patients (94%). HIPEC chemotherapeutic regimen was based on oxaliplatin for 13 (28%) patients and mitomycin for 34 (72%) patients. We experienced a total of 19 (38%) postoperative complications, of which 14 (74%) of grade I-II and 5 (26%) of grade III-IV, according to the Clavien-Dindo classification. The median follow-up period was 27 months (12-107) from the date of cytoreductive surgery. The mean survival rate was 100 months, with a 5-year OS of 91%. The mean progression-free survival rate was 77 months (0-107), with a 5-year PFS of 63%. Multivariate analysis identified adenocarcinoma histotype and incomplete cytoreduction to significantly worsen progression-free survival, while incomplete cytoreduction was the only independent predictor of poorer overall survival. Complete cytoreduction and appendiceal neoplasm histotype play a crucial role in the survival of patients affected by PMP of appendiceal origin. The rates of morbidity associated with CRS and HIPEC for PMP are acceptable.
PubMed: 34513915
DOI: 10.3389/fsurg.2021.715119 -
JAMA Oncology Nov 2022Germline sequence variations in APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, and TP53 genes are associated with susceptibility to...
IMPORTANCE
Germline sequence variations in APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, and TP53 genes are associated with susceptibility to gastrointestinal cancers. As a rare cancer, the evaluation of appendiceal cancer (AC) predisposition has been limited.
OBJECTIVE
To assess the prevalence and spectrum of inherited cancer susceptibility gene sequence variations in patients with AC and the utility of germline genetic testing for this population.
DESIGN, SETTING, AND PARTICIPANTS
This cohort study included patients with AC who underwent germline genetic testing of 14 cancer susceptibility genes performed by a clinical testing laboratory between March 1, 2012, and December 31, 2016. Data were analyzed from March to August 2022. Clinical, individual, and family histories were obtained from clinician-completed test requisition forms. Multigene panel testing was performed by targeted custom capture and sequencing and chromosome rearrangement analysis.
MAIN OUTCOMES AND MEASURES
The main outcomes were germline sequence variation prevalence and spectrum in patients with AC.
RESULTS
Among the 131 patients with AC in the cohort (90 female [68.7%]), a total of 16 deleterious sequence variations were identified in 15 patients (11.5%). Similarly, when limited to the 74 patients with AC as the first and only primary tumor, a total of 8 patients (10.8%) had at least 1 deleterious sequence variation in a cancer susceptibility gene. Overall, 6 patients (4.6%) had a deleterious sequence variation observed in MUTYH (5 with monoallelic MUTYH and 1 with biallelic MUTYH). All 4 patients with Lynch syndrome (3.1%) had a sequence variation in the MLH1 gene, of whom 3 were aged 50 years or older at AC diagnosis. Five patients (3.8%) had deleterious sequence variations in other cancer predisposition genes (1 with APC [c.3920T>A, p.I1307K], 2 with CHEK2 [c.470T>C, p.I157T], 1 with SMAD4 [c.263 287dup, p.L98IFS*14], and 1 with TP53 [c.524G>A, p.R175H]).
CONCLUSIONS AND RELEVANCE
In this cohort study, 1 in every 10 patients with AC who underwent testing for hereditary cancer predisposition carried an inherited gene sequence variation associated with cancer susceptibility. Given the high frequency and broad spectrum of germline gene sequence variations, these data suggest that genetic evaluation might be warranted for all patients diagnosed with this rare malignant tumor. A systemic sequencing effort for all patients with AC may also identify cancer vulnerabilities to exploit for therapeutic development in a cancer type for which clinical trials are limited.
PubMed: 36368039
DOI: 10.1001/jamaoncol.2022.5425 -
ANZ Journal of Surgery Dec 2022
Topics: Humans; Pseudomyxoma Peritonei; Appendix; Appendiceal Neoplasms; Peritoneal Neoplasms
PubMed: 36527695
DOI: 10.1111/ans.17971 -
The Journal of International Medical... Jun 2021To determine the levels of carcinoembryonic antigen (CEA), proliferating nuclear antigen Ki67 and p53 in pseudomyxoma peritonei (PMP) of appendiceal origin and to...
OBJECTIVE
To determine the levels of carcinoembryonic antigen (CEA), proliferating nuclear antigen Ki67 and p53 in pseudomyxoma peritonei (PMP) of appendiceal origin and to correlate the levels with clinicopathological characteristics and overall survival.
METHODS
This retrospective study collected data on clinicopathological features and immunohistochemical staining of CEA, Ki67 and p53 in patients with PMP of appendiceal origin. Overall survival was evaluated using Kaplan-Meier plots. Median survival time was estimated by Log-rank tests. Potential prognostic factors were evaluated by Cox proportional hazards regression models.
RESULTS
A total of 141 patients with PMP of appendiceal origin were enrolled in the study with a median age of 54 years. Of these, 93 (66.0%) were diagnosed with low-grade mucinous carcinoma, 43 (30.5%) with high-grade mucinous carcinoma and five (3.5%) with high-grade with signet ring cells. CEA exhibited ubiquitous immunopositivity in most cases and was not associated with overall survival. Ki67 labelling index (LI) and p53 status were related to histological grade and overall survival. The main pathological indicators affecting survival included histological grade, lymph node involvement, angiolymphatic invasion, Ki67 LI and p53.
CONCLUSION
Combined analysis of high Ki67 LI and aberrant p53 may provide the basis for evaluating the biological behaviour of PMP and predicting clinical outcome.
Topics: Carcinoembryonic Antigen; Humans; Ki-67 Antigen; Middle Aged; Peritoneal Neoplasms; Prognosis; Pseudomyxoma Peritonei; Retrospective Studies; Tumor Suppressor Protein p53
PubMed: 34187207
DOI: 10.1177/03000605211022297