Cancer Diagnosis & Prognosis
Mar-Apr;
4(2):
198-203
DOI: 10.21873/cdp.10308
Received 13 September 2023 |
Revised 09 November 2024 |
Accepted 29 November 2023
Corresponding author
Dr. Nikolaos Tsoukalas, MD, MSc, Ph.D., Medical Oncologist, MSc in Bioinformatics, Director at Department of Oncology, 401 General Military Hospital of Athens, Gennimata N. 10-12, Ampelokipi, 11524 Athens, Greece. Tel: +30 6977366056, email:
tsoukn@yahoo.gr
Abstract
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.
Keywords: Pseudomyxoma peritonei (PMP), diagnosis, presenting symptoms, imaging findings, laparotomy
Pseudomyxoma peritonei (PMP) is a rare disorder within the abdomen clinically presented with abdominal pain and mass, fatigue, and weight loss. It is characterized by progressive accumulation of mucin in the peritoneal cavity and the presence of gelatinous ascites and peritoneal implants. Due to the fact that the symptoms are not specific, it is usually incidentally discovered during surgery for other reasons (1).
PMP is commonly associated with malignant tumors in the appendix, but there is a controversy regarding the epithelium from which it originates (2,3). Theories of ovaries being an alternative primary site of PMP origin are considered to be convincing, although not fully explained when it comes to immunochemistry. The term is still being applied for a wide range of diseases and some oncologists and pathologists apply PMP to any condition with gelatinous material in the abdomen and pelvis (4).
The disease is three to four times more common in females than males and its incidence estimated at 1-2 per million per year (5,6). This case report presents the challenging clinical diagnosis of a PMP and the intriguing effect that it had on the choice of treatment.
Case Report
A 51-year-old female presented to the emergency department with a five month history of gradually deteriorating abdominal pain, abdominal distension and ascites. The clinical examination did not reveal any palpable masses of the abdomen beyond marked ascites. The computed tomography (CT) scan of the upper and lower abdomen revealed an ovary enlargement and ascites. Serum tumor markers were also measured to be as follows: CEA=312.9 ng/ml, CA125=72.9 IU/ml, CA19-9=520.6 ng/ml.
The patient underwent an investigational laparotomy, and a tumor was found in the right iliac fossa, infiltrating the right ovary, right fallopian tube, and omentum. A second tumor was found in the left ovary as well.
An extrafascial total abdominal hysterectomy along with bilateral salpingo-oophorectomy and resection of the infracolic omentum was performed. Macroscopically, the right iliac tumor was described as having a mucinous, cystic form (5×5×3cm) with an irregular inner surface and a multilobar, mucinous, grey-brown outer surface. The second tumor sallied out from the left ovary, laterally, towards the fallopian interspace, infiltrating almost the entire left fallopian tube. It was a multilobar, mucinous, grey-brown tumor (3×3×2.5cm). The histopathology and immunohistochemistry report (CK20 positive and CK7 negative) confirmed the diagnosis of a mucinous adenocarcinoma, in the context of PMP.
Although the extensive sampling of the surgical specimen did not reveal histological evidence of appendix residue (CK20 positive rather than CK7) and elevated CEA, the patient was treated with oxaliplatin combined with 5-FU (FOLFOX4 regimen), as first line treatment for stage IV colorectal cancer. The re-evaluation after six cycles showed virtually stable disease and it was decided that she should continue with second line chemotherapy, using the combination of irinotecan and 5-FU (FOLFIRI regimen).
Three months later, the patient was stable and underwent plastic surgery for omphalocele and white line hernia. The pathology report showed infiltration with mucinous cystadenocarcinoma, with extracellular and intracellular mucin production (signet-ring cells). Palliative treatment was offered, however, the patient died 30 months after the primary diagnosis.
Review of the literature. We searched MEDLINE for papers using the following key words: “pseudomyxoma peritonei”, “cancer”, “malignancy”, “presenting symptoms” and “laparatomy”. Reference lists in the retrieved papers were checked to identify any other published data. Cases were included if there was both clinical and histological evidence of PMP. Only papers written in the English language and cases with patients older than 14 years were included in the analysis. Data regarding the primary tumor, age, sex, presenting symptoms, and the clinical and diagnostic work up were analyzed.
Table I summarizes the 35 cases, including ours, that were identified in the literature review for patients experiencing symptoms of “pseudomyxoma peritonei”, presented with a variety of clinical pictures, stages at time of surgery, and histologic types.
Discussion
This report describes the clinical experience of managing a rare PMP case. The correct diagnosis of the disease is considered of high importance since the discovery of the origin indicates the appropriate treatment regimen. It is emphasized that even with no histological evidence of appendix residue; we must consider the primary origin as colorectal cancer (7). In this case, the immunohistochemistry findings (positive CK20 and negative CK7) and elevated tumor markers (CA19-9 and CEA) strongly supported the colorectal origin of this PMP. What merits a particular mention is the classification that pathologists have compiled for PMP subtypes, with different prognosis for each one: disseminated peritoneal adenomucinosis (DPAM), peritoneal mucinous carcinomatosis (PMCA), and an intermediate PMCA type (PMCA-1) (7).
PMP is a slowly progressive disease that can be presented with a variety of symptoms. Usually, PMP exhibits the characteristic “jelly belly”, as the amount of mucoid fluid fills the peritoneal cavity. Symptoms that have been described are abdominal pain, nausea, vomiting, fatigue, and urinary abnormalities. It can also be presented with local symptomatology, mirroring the location of the primary or metastatic tumor, like appendicitis (38).
In the majority of cases as we can see in Table I, the diagnosis was made only by CT (11 cases) with the assistance of ultrasound (u/s) or magnetic resonance imaging (MRI), followed by histopathologic verification of an extensively sampled tumor. In six cases, only u/s was performed (10,12,20,32,36,37), but in two of them (36,37), u/s misled the diagnosis, resulting in delayed treatment. Thus, CT or MRI would be probably the most appropriate imaging option, offering accurate and prompt diagnosis. Ultrasound usually describes cystic masses and mucinous substance as retroperitoneal fluid. CT and MRI will differentiate the fluid (watery vs. mucinous) and confirm the cystic nature of the masses.
Another important aspect for the diagnosis and follow-up of PMP patients is the assessment of serum tumor markers CEA and CA19-9. CEA has been reported to be increased in 56% to 75% of patients and CA19-9 in 58% to 67% respectively, whilst the baseline tumor marker values seem to be related to the extent of tumor and completeness of resection (39,40).
Analysis of immunohistochemical markers' expression, such as cytokeratin (CK) 7, 20, CEA, and CDX-2 is very useful in characterizing the origin of tumors. Positive expression of CK20, CEA, and CDX-2 imply primary colorectal or appendiceal origin while CK7 and CA125 indicate a primary ovarian origin (41).
There is currently no consensus regarding the optimal treatment for progressive PMP. Cytoreductive surgery, with or without hyperthermic intraperitoneal chemotherapy (HIPEC), despite possible concomitant morbidity is considered the proper treatment (42). Although several approaches have been described so far, the radical removal of all intra-abdominal and pelvic disease and the administration of intraperitoneal heated chemotherapy (mitomycin, 5-FU) have been adopted by most clinicians (43,44).
Conclusion
To conclude, the reported symptoms for PMP vary, the clinical course is vague, and there is no certain pathognomic signs that can lead to the prompt diagnosis and management of this clinical entity. Therefore, clinicians should demonstrate high index of clinical suspicion, as to discover this medical entity without delay.
Conflicts of Interest
No potential conflicts of interest exist in relation to this study.
Authors’ Contributions
All Authors equally contributed to this study regarding the conception and design of the study, literature review and analysis, drafting, critical revision, editing, and final approval of the final version.
References
1
Bevan KE
,
Mohamed F
&
Moran BJ
. Pseudomyxoma peritonei. World J Gastrointest Oncol.
2(1)
44
- 50
2010.
DOI:
10.4251/wjgo.v2.i1.44
2
Nakakura EK
. Pseudomyxoma peritonei: more questions than answers. J Clin Oncol.
30(20)
2429
- 2430
2012.
DOI:
10.1200/JCO.2012.42.3764
3
Esquivel J
&
Sugarbaker PH
. Clinical presentation of the pseudomyxoma peritonei syndrome. Br J Surg.
87(10)
1414
- 1418
2002.
DOI:
10.1046/j.1365-2168.2000.01553.x
5
Ronnett BM
,
Zahn CM
,
Kurman RJ
,
Kass ME
,
Sugarbaker PH
&
Shmookler BM
. A clinicopathologic analysis of 109 cases with emphasis on distinguishing pathologic features, site of origin, prognosis, and relationship to “pseudomyxoma peritonei”. Am J Surg Pathol.
19(12)
1390
- 1408
1995.
DOI:
10.1097/00000478-199512000-00006
6
Moran BJ
&
Cecil TD
. The etiology, clinical presentation, and management of pseudomyxoma peritonei. Surg Oncol Clin North Am.
12(3)
585
- 603
2003.
DOI:
10.1016/s1055-3207(03)00026-7
7
Smeenk RM
,
van Velthuysen ML
,
Verwaal VJ
&
Zoetmulder FA
. Appendiceal neoplasms and pseudomyxoma peritonei: A population based study. Eur J Surg Oncol.
34(2)
196
- 201
2008.
DOI:
10.1016/j.ejso.2007.04.002
8
Darr U
,
Renno A
,
Alkully T
,
Khan Z
,
Tiwari A
,
Zeb W
,
Purdy J
&
Nawras A
. Diagnosis of Pseudomyxoma peritonei via endoscopic ultrasound guided fine needle aspiration: a case report and review of literature. Scand J Gastroenterol.
52(5)
609
- 612
2017.
DOI:
10.1080/00365521.2017.1284896
9
Gohda Y
,
Noguchi R
,
Horie T
,
Igari T
,
Nakamura H
,
Ohta Y
,
Yamaguchi K
,
Ikenoue T
,
Hatakeyama S
,
Yusa N
,
Furukawa Y
&
Yano H
. Pseudomyxoma peritonei of a mature ovarian teratoma caused by mismatch repair deficiency in a patient with Lynch syndrome: a case report. BMC Med Genet.
17(1)
94
2016.
DOI:
10.1186/s12881-016-0356-5
10
Anania G
,
Giaccari S
,
Solfrini G
,
Scagliarini L
,
Vedana L
&
Resta G
. Appendicular mucocele: two case reports and literature review. G Chir.
36(6)
276
- 279
2015.
DOI:
10.11138/gchir/2015.36.6.276
11
Ghosh RK
,
Somasundaram M
,
Ravakhah K
&
Hassan C
. Pseudomyxoma peritonei with intrathoracic extension: a rare disease with rarer presentation from low-grade mucinous adenocarcinoma of the appendix. BMJ Case Rep.
2016
bcr2015211076
2016.
DOI:
10.1136/bcr-2015-211076
12
Zhou F
,
Chen X
,
Li Y
&
Huang L
. Two independent primary mucinous tumors involving the appendix and ovary accompanied with acellular pseudomyxoma peritonei. Int J Clin Exp Pathol.
8(9)
11831
- 11834
2015.
13
Joo MW
,
Chung YG
,
Hur SY
,
Lee A
,
Jung CK
,
Jee WH
&
Kim JH
. Pseudomyxoma peritonei extending to the lower extremity: a case report. World J Surg Oncol.
13
221
2015.
DOI:
10.1186/s12957-015-0639-x
14
Agrawal AK
,
Bobiński P
,
Grzebieniak Z
,
Rudnicki J
,
Marek G
,
Kobielak P
,
Kazanowski M
,
Agrawal S
&
Hałoń A
. Pseudomyxoma peritonei originating from urachus-case report and review of the literature. Curr Oncol.
21(1)
e155
- e165
2014.
DOI:
10.3747/co.21.1695
15
Martínez A
,
Ferron G
,
Mery E
,
Gladieff L
,
Delord JP
&
Querleu D
. Peritoneal pseudomyxoma arising from the urachus. Surg Oncol.
21(1)
1
- 5
2012.
DOI:
10.1016/j.suronc.2009.12.004
16
Kebapçı M
,
Şaylısoy S
,
Can C
&
Dündar E
. Radiologic findings of urachal mucinous cystadenocarcinoma causing pseudomyxoma peritonei. Jpn J Radiol.
30(4)
345
- 348
2012.
DOI:
10.1007/s11604-011-0050-7
17
Nozaki T
,
Yasuda K
,
Watanabe A
&
Fuse H
. Laparoscopic management of urachal mucinous borderline tumor associated with pseudomyxoma peritonei. Surg Laparosc Endosc Percutan Tech.
21(3)
e152
- e155
2011.
DOI:
10.1097/SLE.0b013e3182222bd4
18
Lamb BW
,
Vaidyanathan R
,
Laniado M
,
Karim O
&
Motiwala H
. Mucinous adenocarcinoma of the urachal remnant with pseudomyxoma peritonei. Urol J.
7(2)
138
- 139
2010.
19
Sugiyama K
&
Ito N
. Mucinous cystadenocarcinoma of the urachus associated with pseudomyxoma peritonei with emphasis on MR findings. Magn Reson Med Sci.
8(2)
85
- 89
2009.
DOI:
10.2463/mrms.8.85
20
Khalid K
,
Ahmed MS
&
Malik MS
. Adenocarcinoma of urachal cyst associated with pseudomyxoma peritonei masquerading as abdominal tuberculosis: A case report and review of literature. Indian J Urol.
24(2)
258
- 260
2008.
DOI:
10.4103/0970-1591.40626
21
Sugarbaker PH
,
Verghese M
,
Yan TD
&
Brun E
. Management of mucinous urachal neoplasm presenting as pseudomyxoma peritonei. Tumori.
94(5)
732
- 736
2008.
22
Yan TD
,
Sugarbaker PH
&
Brun EA
. Pseudomyxoma peritonei from mucinous adenocarcinoma of the urachus. J Clin Oncol.
24(30)
4944
- 4946
2006.
DOI:
10.1200/JCO.2006.06.7223
23
Shinohara T
,
Misawa K
,
Sano H
,
Okawa Y
&
Takada A
. Pseudomyxoma peritonei due to mucinous cystadenocarcinoma in situ of the urachus presenting as an inguinal hernia. Int J Clin Oncol.
11(5)
416
- 419
2006.
DOI:
10.1007/s10147-006-0594-1
24
Takeuchi M
,
Matsuzaki K
,
Yoshida S
,
Nishitani H
&
Uehara H
. Imaging findings of urachal mucinous cystadenocarcinoma associated with pseudomyxoma peritonei. Acta Radiol.
45(3)
348
- 350
2004.
DOI:
10.1080/02841850410004959
25
Yanagisawa S
,
Fujinaga Y
&
Kadoya M
. Urachal mucinous cystadenocarcinoma with a cystic ovarian metastasis. AJR Am J Roentgenol.
180(4)
1183
- 1184
2003.
DOI:
10.2214/ajr.180.4.1801183
26
Stenhouse G
,
McRae D
&
Pollock AM
. Urachal adenocarcinoma in situ with pseudomyxoma peritonei: a case report. J Clin Pathol.
56(2)
152
- 153
2003.
DOI:
10.1136/jcp.56.2.152
28
Sasano H
,
Shlzawa S
,
Nagura H
&
Yamaki T
. Mucinous adenocarcinoma arising in a giant urachal cyst associated with pseudomyxoma peritonei and stromal osseous metaplasia. Pathol Int.
47(7)
502
- 505
1997.
DOI:
10.1111/j.1440-1827.1997.tb04531.x
29
Loggie BW
,
Fleming RA
&
Hosseinian AA
. Peritoneal carcinomatosis with urachal signet-cell adenocarcinoma. Urology.
50(3)
446
- 448
1997.
DOI:
10.1016/S0090-4295(97)00247-1
30
Touloumis Z
,
Galyfos G
,
Kavouras N
,
Menis M
&
Lavant L
. Aggressive pseudomyxoma peritonei: a case report with an unusual clinical presentation. Case Rep Oncol Med.
2013
926963
2013.
DOI:
10.1155/2013/926963
31
Idjuski S
,
Turkalj I
,
Petrovic K
&
Vanhoenacker FM
. Pseudomyxoma peritonei due to mucinous adenocarcinoma of the appendix. JBR–BTR.
96(3)
184
2013.
DOI:
10.5334/jbr-btr.266
32
Mavrodin C
,
Pariza G
,
Iordache V
,
Iorga P
&
Sajin M
. Pseudomixoma peritonei, a rare entity difficult to diagnose and treat - case report. Chirurgia (Bucur).
109(6)
846
- 849
2014.
33
Quiñonez E
,
Schuldt M
,
Retamero JA
&
Nogales FF
. Ovarian strumal carcinoid containing appendiceal-type mucinous tumor patterns presenting as pseudomyxoma peritonei. Int J Gynecol Pathol.
34(3)
293
- 297
2015.
DOI:
10.1097/PGP.0000000000000138
34
Peixoto RD
,
Wilson S
,
Schaeffer DF
&
Lim HJ
. Pseudomyxoma peritonei metastatic to the bone: case report and review of systemic management. Gastrointest Cancer Res.
7(3-4)
108
- 110
2014.
35
Becude L
,
Lugtenberg RT
&
Koster T
. A 41-year-old man with an increased abdominal girth. Neth J Med.
72(8)
432
- 436
2014.
36
Demetrashvili Z
,
Chkhaidze M
,
Khutsishvili K
,
Topchishvili G
,
Javakhishvili T
,
Pipia I
&
Qerqadze V
. Mucocele of the appendix: case report and review of literature. Int Surg.
97(3)
266
- 269
2012.
DOI:
10.9738/CC139.1
37
Idris LO
,
Olaofe OO
,
Adejumobi OM
,
Kolawole AO
&
Jimoh AK
. Giant mucocele of the appendix in pregnancy: A case report and review of literature. Int J Surg Case Rep.
9
95
- 97
2015.
DOI:
10.1016/j.ijscr.2015.02.042
38
Carmignani CP
,
Hampton R
,
Sugarbaker CE
,
Chang D
&
Sugarbaker PH
. Utility of CEA and CA19-9 tumor markers in diagnosis and prognostic assessment of mucinous epithelial cancers of the appendix. J Surg Oncol.
87(4)
162
- 166
2004.
DOI:
10.1002/jso.20107
39
van Ruth S
,
Hart AA
,
Bonfrer JM
,
Verwaal VJ
&
Zoetmulder FA
. Prognostic value of baseline and serial carcinoembryonic antigen and carbohydrate antigen 19.9 measurements in patients with pseudomyxoma peritonei treated with cytoreduction and hyperthermic intraperitoneal chemotherapy. Ann Surg Oncol.
9(10)
961
- 967
2002.
DOI:
10.1007/BF02574513
40
Nonaka D
,
Kusamura S
,
Baratti D
,
Casali P
,
Younan R
&
Deraco M
. CDX-2 expression in pseudomyxoma peritonei: a clinicopathological study of 42 cases. Histopathology.
49(4)
381
- 387
2006.
DOI:
10.1111/j.1365-2559.2006.02512.x
41
Ioannidis O
,
Cheva A
,
Paraskevas G
,
Papadimitriou N
,
Konstantara A
,
Chatzopoulos S
,
Kotronis A
,
Makrantonakis A
&
Kakoutis E
. Pseudomyxoma retroperitonei: report of 2 cases and review of the literature. Rev Esp Enferm Dig.
104(5)
268
- 275
2012.
DOI:
10.4321/s1130-01082012000500009
42
Sugarbaker PH
. Managing the peritoneal surface component of gastrointestinal cancer. Part 1. Patterns of dissemination and treatment options. Oncology (Williston Park).
18(1)
51
2004.
43
Sugarbaker PH
. Managing the peritoneal surface component of gastrointestinal cancer. Part 2. Perioperative intraperitoneal chemotherapy. Oncology (Williston Park).
18(2)
207
2004.
44
Csanyi-Bastien M
,
Blanchard F
,
Lamy A
&
Sabourin JC
. A case of Pseudomyxoma Peritonei of an unexpected origin. Diagn Pathol.
16(1)
119
2021.
DOI:
10.1186/s13000-021-01179-z