What makes it a Primary Ovarian Pseudomyxoma Peritonei When there are Mucinous Tumours of both Ovary and Appendix

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Mekala Lakshminarayanan ◽  
Ann Kurian ◽  
Kumar Gubbala
Keyword(s):  
Pseudomyxoma Peritonei ◽  
Mucinous Tumours

scholarly journals Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Mei Sim Lung ◽  
◽  
Catherine A. Mitchell ◽  
Maria A. Doyle ◽  
Andrew C. Lynch ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pseudomyxoma Peritonei ◽  
Whole Exome ◽  
Mucinous Tumours

scholarly journals Pseudomyxoma peritonei (PMP) - a rare entity

2011 ◽  
Vol 15 (3) ◽  
pp. 79-81 ◽  
Author(s):  
Zaeem Ismail Ebrahim ◽  
Zarina Ismail Lockhat ◽  
Farzanah Ismail
Keyword(s):  
Pseudomyxoma Peritonei ◽  
Rare Complication ◽  
Morbidity And Mortality ◽  
Rare Entity ◽  
Loss Of Function ◽  
New Techniques ◽  
Visceral Organs ◽  
Mucinous Tumours

Pseudomyxoma peritonei (PMP) is a rare complication of mucinous tumours of appendiceal or ovarian origin that results in peritoneal and omental implants. Clinical morbidity and mortality arise from the fact that copious amounts of extracellular and peritoneal mucin result in distortion and loss of function of visceral organs. Therapeutic paracentesis is not possible because of the nature of the mucin. Currently, new techniques are being used to attempt to debulk the mucin volume; none, however, has lead to superior outcome.

scholarly journals Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

2019 ◽  
Author(s):  
Mei Sim Lung ◽  
Catherine A. Mitchell ◽  
Maria A. Doyle ◽  
Andrew C. Lynch ◽  
Kylie L. Gorringe ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Pseudomyxoma Peritonei ◽  
Loss Of Function ◽  
Site Mutation ◽  
Germline Variants ◽  
Missense Variants ◽  
Whole Exome ◽  
Mucinous Tumours

Abstract Background Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter with AMTs presenting with pseudomyxoma peritonei (PMP) and correlated these with regions of loss of heterozygosity (LOH) in the tumours. Materials and Methods Through germline whole exome sequencing, we identified novel heterozygous loss-of-function (LoF) (i.e. nonsense, frameshift and essential splice site mutations) and missense variants shared between father and daughter, and validated all LoF variants, and missense variants with a Combined Annotation Dependent Depletion (CADD) scaled score of ≥10. Genome-wide copy number analysis was performed on tumour tissue from both individuals to identify regions of LOH. Results Seventeen novel variants in 17 genes were shared by the father and daughter: a nonsense mutation in REEP5 , an essential splice site mutation in THOP1 , and 15 missense variants. None of these germline variants were located in tumour regions of LOH shared by the father and daughter. Four genes ( EXOG , RANBP2, RANBP6 and TNFRSF1B ) harboured missense variants that fell in a region of LOH in the tumour from the father only, but none showed somatic loss of the wild type allele in the tumour. The REEP5 gene was sequenced in 23 individuals with presumed sporadic PMP; no LoF or rare missense germline variants were identified. Conclusion Germline exome sequencing of a father and daughter with AMTs identified novel candidate predisposing genes. Further studies are required to clarify the role of these genes in familial AMTs.

scholarly journals Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

2019 ◽  
Author(s):  
Mei Sim Lung ◽  
Catherine A. Mitchell ◽  
Maria A. Doyle ◽  
Andrew C. Lynch ◽  
Kylie L. Gorringe ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pseudomyxoma Peritonei ◽  
Loss Of Function ◽  
Germline Variants ◽  
Missense Variants ◽  
Genome Wide ◽  
Whole Exome ◽  
Predisposing Genes ◽  
Mucinous Tumours

Abstract Background Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter with AMTs presenting with pseudomyxoma peritonei (PMP) and correlated these with regions of loss of heterozygosity (LOH) in the tumours. Methods Through germline whole exome sequencing, we identified novel heterozygous loss-of-function (LoF) (i.e. nonsense, frameshift and essential splice site mutations) and missense variants shared between father and daughter, and validated all LoF variants, and missense variants with a Combined Annotation Dependent Depletion (CADD) scaled score of ≥10. Genome-wide copy number analysis was performed on tumour tissue from both individuals to identify regions of LOH. Results Fifteen novel variants in 15 genes were shared by the father and daughter, including a nonsense mutation in REEP5. None of these germline variants were located in tumour regions of LOH shared by the father and daughter. Four genes ( EXOG , RANBP2, RANBP6 and TNFRSF1B ) harboured missense variants that fell in a region of LOH in the tumour from the father only, but none showed somatic loss of the wild type allele in the tumour. The REEP5 gene was sequenced in 23 individuals with presumed sporadic AMTs or PMP; no LoF or rare missense germline variants were identified. Conclusion Germline exome sequencing of a father and daughter with AMTs identified novel candidate predisposing genes. Further studies are required to clarify the role of these genes in familial AMTs.

Treatment of pseudomyxoma peritonei by intraoperative and intraperitoneal chemotherapy

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e16540-e16540
Author(s):  
M. Friedrich ◽  
W. Poleska ◽  
J. Baltzer ◽  
D. Salehin
Keyword(s):  
Side Effects ◽  
Intraperitoneal Chemotherapy ◽  
Pseudomyxoma Peritonei ◽  
Mucinous Cystadenoma ◽  
Ovarian Tumour ◽  
The Other ◽  
Mucinous Cystadenocarcinoma ◽  
Borderline Tumour ◽  
Mucinous Tumours

e16540 Background: Pseudomyxoma peritonei occurs mostly in conjunction with the type of intestinal mucinous borderline tumour and is characterized by building up a lot of mucus pour of cells. The most common tumor is the pseudomyxoma peritoneii with mucinous borderline tumours of the ovaries or with mucinous tumours of the appendix, normally without showing a rupture of the ovarian tumour pre- or intraoperatively. The diagnosis of pseudomyxoma peritonei is mainly difficult and guidelines for the treatment are unknown. Methods: In the period from 1991 to 2008, 52 patients with pseudomyxoma peritonei were treated by tumour debulking and intraoperative and intraperitoneal chemotherapy with Mitoxantron (40 mg in 300 ml of NaCl over 72 hours). During the tumour debulking a CUSA system was used. Results: The median follow-up was 8.2 years. There were the following histologies: mucinous cystadenoma of the ovary n = 29, mucinous cystadenoma of the appendix n = 10, mucinous cystadenocarcinoma n = 13. Reccurrences were seen in 4 patients. These patients were treated for reccurrences by the same way as mention above. All these patients were now without any recurrences. The other 48 patients are still alive with recurrences. Conclusions: The instillation of mitoxantron intraperitoneally and intraoperatively is an effective and safe therapy without any side effects after maximal tumour debulking of pseudomyxoma peritoneii. No significant financial relationships to disclose.

Pseudomyxoma peritonei (PMP) and its therapy – 20 years’ experience of a single surgical department

2020 ◽  
Vol 99 (4) ◽  
pp. 159-166
Keyword(s):  
Median Survival ◽  
Intraperitoneal Chemotherapy ◽  
Pseudomyxoma Peritonei ◽  
High Efficiency ◽  
Entire Group ◽  
Low Grade ◽  
Imaging Methods ◽  
Surgical Department ◽  
Mucinous Tumours ◽  
The Mean

Introduction: Pseudomyxoma peritonei (PMP) is a rare malignant disease with various grades of malignancy, producing mucinous and gelatinous masses. The origin of PMP is usually connected with the rupture of appendiceal mucinous tumours, other mucinous tumours of the gastrointestinal tract or of the ovary. The staging of this disease is determined by the PCI score (peritoneal cancer index), and the efficiency of surgical procedure by the CC score. Clinical presentation is very variable and depends on the stage of the disease. Many patients are asymptomatic with a minimal clinical finding, presented only with abdominal discomfort. A typical finding of the “jelly belly“ syndrome expands with progression of the disease. The diagnosis consists in preoperative determination of the tumour characteristics and PCI based on imaging methods, especially CT imaging. Methods: The Sugarbaker technique of complete tumour removal or the so-called cytoreductive surgery (CRS) was used, including hyperthermic intraperitoneal chemotherapy (HIPEC) or alternatively early postoperative intraperitoneal chemotherapy (EPIC). We performed retrospective evaluation of 73 patients with pseudomyxoma peritonei undergoing surgery, 39 males and 34 females, mean age 50.6 and 56.4 years, respectively. Surgical revision was performed in 18 patients, 14 males and 4 females. The mean age of this group was 48.8 for the males and 47 for the females. The surgical procedures were performed between 1999 and 2018. Survival rates, median survival, complications based on Clavien-Dindo classification, lethality rates, and PCI and CC scores were assessed in the patient group. Results: 96 surgeries were performed in 73 patients with pseudomyxoma peritonei at our surgical department between 1999−2018. The surgery had to be repeated in 18 patients (24.6%). High grade (HG) pseudomyxoma was diagnosed in 29 patients (39.7%), and low grade (LG) pseudomyxoma in 44 patients (60.3%). Overall morbidity was 27.3%, and the mortality rate was 5.4%. The mean overall survival (OS) was 139.5 months in the LG pseudomyxoma group and 71.5 months in the HG pseudomyxoma group. Median survival was 86 months in the entire group and 72 in the HG pseudomyxoma group; the median was not reached in the LG pseudomyxoma group. Conclusions: Results in the literature and our results are comparable, confirming the high efficiency of this method both in the world and in the Czech republic. The results indicate a highly statistically significant improvement of the OS with acceptable mortality and morbidity. These results confirm this method as a gold standard therapy for selected patients.

scholarly journals Pseudomyxoma peritonei

2014 ◽  
Vol 18 (1) ◽  
Author(s):  
Binit Sureka ◽  
Mahesh K. Mittal ◽  
Aliza Mittal ◽  
Mukul Sinha ◽  
Brij B. Thukral
Keyword(s):  
Pseudomyxoma Peritonei ◽  
Rare Complication ◽  
Critical Role ◽  
Biliary Tree ◽  
Rare Entity ◽  
Loss Of Function ◽  
Visceral Organs ◽  
Mucinous Tumours

Pseudomyxoma peritonei is a rare complication of mucinous tumours of appendiceal or ovarian origin. Other associations are malignancies of the colon, urachus and biliary tree. Large amounts of extracellular and peritoneal mucin result in distortion and loss of function of visceral organs. Currently, radiology plays a critical role in diagnosing this rare entity, in follow-up and in predicting the outcome of cytoreductive surgeries.

Sign in / Sign up

Export Citation Format

Share Document