The histopathological classification, diagnosis and differential diagnosis of mucinous appendiceal neoplasms, appendiceal adenocarcinomas and pseudomyxoma peritonei

Histopathology

Volumn 71, Issue 6, 2017, Pages 847-858

  Carr, Norman J ^a   Bibeau, Frederic ^b   Bradley, Robert F ^c   Dartigues, Peggy ^d   Feakins, Roger M ^e   Geisinger, Kim R ^f   Gui, Xianyong ^g   Isaac, Sylvie ^h   Milione, Massimo ⁱ   Misdraji, Joseph ^j   Pai, Reetesh K ^k   Rodriguez Justo, Manuel ^l   Sobin, Leslie H ^m   van Velthuysen, Marie Louise F ⁿ   Yantiss, Rhonda K ^o  

^a Peritoneal Malignancy Institute   (United Kingdom)

^b UNIVERSITÉ DE CAEN   (France)

^c Professional Pathology Services   (United States)

^d INSTITUT GUSTAVE ROUSSY   (France)

^e ROYAL LONDON HOSPITAL   (United Kingdom)

^f UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^g CALGARY LABORATORY SERVICES   (Canada)

^h CENTRE HOSPITALIER LYON SUD   (France)

ⁱ NATIONAL CANCER INSTITUTE   (Italy)

^j MASSACHUSETTS GENERAL HOSPITAL   (United States)

^k UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m NATIONAL CANCER INSTITUTE   (United States)

ⁿ ERASMUS MEDICAL CENTER   (Netherlands)

^o WEILL CORNELL MEDICAL COLLEGE   (United States)

more..

Author keywords

appendiceal neoplasms; appendix; peritoneum; pseudomyxoma peritonei

Indexed keywords

ADENOCARCINOMA; APPENDICEAL ADENOCARCINOMA; APPENDIX TUMOR; CANCER DIAGNOSIS; CANCER PATIENT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; HISTOPATHOLOGY; HUMAN; MEDICAL TERMINOLOGY; MUCINOUS APPENDICEAL NEOPLASM; PERITONEUM PSEUDOMYXOMA; PRIORITY JOURNAL; REVIEW; ADENOMA; APPENDIX; CLASSIFICATION; PATHOLOGY; PERITONEUM; PERITONEUM TUMOR; POLYP;

ADENOCARCINOMA; ADENOMA; APPENDICEAL NEOPLASMS; APPENDIX; DIAGNOSIS, DIFFERENTIAL; HUMANS; PERITONEAL NEOPLASMS; PERITONEUM; POLYPS; PSEUDOMYXOMA PERITONEI;

EID: 85030092155     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/his.13324     Document Type: Review

References (76)

1. Misdrajii J, Yantiss RK, Graeme-Cook FM, Balis UJ, Young RH. Appendiceal mucinous neoplasms: a clinicopathologic analysis of 107 cases. Am. J. Surg. Pathol. 2003; 27; 1089–1103.
2. Panarelli NC, Yantiss RK. Mucinous neoplasms of the appendix and peritoneum. Arch. Pathol. Lab. Med. 2011; 135; 1261–1268.
3. Pai RK, Longacre TA. Appendiceal mucinous tumors and pseudomyxoma peritonei: histologic features, diagnostic problems and proposed classification. Adv. Anat. Pathol. 2005; 12; 291–311.
4. Young RH. Pseudomyxoma peritonei and selected other aspects of the spread of appendiceal neoplasms. Semin. Diagn. Pathol. 2004; 21; 134–150.
5. Carr NJ, Finch J, Ilesley IC et al. Pathology and prognosis in pseudomyxoma peritonei: a review of 274 cases. J. Clin. Pathol. 2012; 65; 919–923.
6. Carr NJ, Sobin LH. Unusual tumors of the appendix and pseudomyxoma peritonei. Semin. Diagn. Pathol. 1996; 13; 314–325.
7. Smeenk RM, van Velthuysen ML, Verwaal VJ, Zoetmulder FA. Appendiceal neoplasms and pseudomyxoma peritonei: a population based study. Eur. J. Surg. Oncol. 2008; 34; 196–201.
8. Chua TC, Moran BJ, Sugarbaker PH et al. Early- and long-term outcome data of patients with pseudomyxoma peritonei from appendiceal origin treated by a strategy of cytoreductive surgery and hyperthermic intraperitoneal chemotherapy. J. Clin. Oncol. 2012; 30; 2449–2456.
9. Chua TC, Liauw W, Zhao J, Morris DL. Upfront compared to delayed cytoreductive surgery and perioperative intraperitoneal chemotherapy for pseudomyxoma peritonei is associated with considerably lower perioperative morbidity and recurrence rate. Ann. Surg. 1991; 253; 769–773.
10. Elias D, Gilly F, Quenet F et al. Pseudomyxoma peritonei: a French multicentric study of 301 patients treated with cytoreductive surgery and intraperitoneal chemotherapy. Eur. J. Surg. Oncol. 2010; 36; 456–462.
11. Davison JM, Choudry HA, Pingpank JF et al. Clinicopathologic and molecular analysis of disseminated appendiceal mucinous neoplasms: identification of factors predicting survival and proposed criteria for a three-tiered assessment of tumor grade. Mod. Pathol. 2014; 27; 1521–1539.
12. Misdraji J. Appendiceal mucinous neoplasms: controversial issues. Arch. Pathol. Lab. Med. 2010; 134; 864–870.
13. Ronnett BM, Zahn CM, Kurman RJ, Kass ME, Sugarbaker PH, Shmookler BM. Disseminated peritoneal adenomucinosis and peritoneal mucinous carcinomatosis. 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. 1995; 19; 1390–1408.
14. Shetty S, Natarajan B, Thomas P, Govindarajan V, Sharma P, Loggie B. Proposed classification of pseudomyxoma peritonei: influence of signet ring cells on survival. Am. Surg. 2013; 79; 1171–1176.
15. Carr NJ, Cecil TD, Mohamed F et al. A consensus for classification and pathologic reporting of pseudomyxoma peritonei and associated appendiceal neoplasia. Am. J. Surg. Pathol. 2016; 40; 14–26.
16. Rosenberger LH, Stein LH, Witkiewicz AK, Kennedy EP, Yeo CJ. Intraductal papillary mucinous neoplasm (IPMN) with extra-pancreatic mucin: a case series and review of the literature. J. Gastrointest. Surg. 2012; 16; 762–770.
17. Agrawal AK, Bobiński P, Grzebieniak Z et al. Pseudomyxoma peritonei originating from urachus – case report and review of the literature. Curr. Oncol. 2014; 21; e155–e165.
18. Bradley RF, Stewart JH, Russell GB, Levine EA, Geisinger KR. Pseudomyxoma peritonei of appendiceal origin: a clinicopathological analysis of 101 patients uniformly treated at a single institution, with literature review. Am. J. Surg. Pathol. 2006; 30; 551–559.
19. Carr NJ, Sobin LH. Adenocarcinoma of the appendix. In Bosman FT, Carneiro F, Hruban RH, Theise ND eds. World Health Organization classification of tumours of the digestive system. 4th ed. Lyon: IARC Press, 2010; 122–125.
20. Pai RK, Beck AH, Norton JA, Longacre TA. Appendiceal mucinous neoplasms: clinicopathologic study of 116 cases with analysis of factors predicting recurrence. Am. J. Surg. Pathol. 2009; 33; 1425–1439.
21. Ronnett BM, Yan H, Kurman RJ, Kass ME, Sugarbaker PH, Shmookler BM. Patients with pseudomyxoma peritonei associated with disseminated peritoneal adenomucinosis have a significantly more favorable prognosis than patients with peritoneal mucinous carcinomatosis. Cancer 2001; 92; 85–91.
22. McDonald JR, O'Dwyer ST, Rout S et al. Classification of and cytoreductive surgery for low-grade appendiceal mucinous neoplasms. Br. J. Surg. 2012; 99; 987–992.
23. Baratti D, Kusamura S, Nonaka D, Cabras AD, Laterza B, Deraco M. Pseudomyxoma peritonei: biological features are the dominant prognostic determinants after complete cytoreduction and hyperthermic intraperitoneal chemotherapy. Ann. Surg. 2009; 249; 243–249.
24. Guo AT, Li YM, Wei LX. Pseudomyxoma peritonei of 92 Chinese patients: clinical characteristics, pathological classification and prognostic factors. World J. Gastroenterol. 2012; 18; 3081–3088.
25. Bruin SC, Verwaal VJ. Vincent A, van't Veer LJ, van Velthuysen ML. A clinicopathologic analysis of peritoneal metastases of colorectal and appendiceal origin. Ann. Surg. Oncol. 2010; 17; 2330–2340.
26. Sirintrapun SJ, Blackham AU, Russell G et al. Significance of signet ring cells in high-grade mucinous adenocarcinoma of the peritoneum from appendiceal origin. Hum. Pathol. 2014; 45; 1597–1604.
27. Li Y. Highlights from the 8th World Congress on Peritoneal Surface Malignancies. Cancer Biol. Med. 2012; 9; 277–278.
28. Marmor S, Portschy PR, Tuttle TM, Virnig BA. The rise in appendiceal cancer incidence: 2000–2009. J. Gastrointest. Surg. 2015; 19; 743–750.
29. Vidarsdottir H, Jónasson JG, Möller PH. Adenocarcinoma of the appendix in Iceland 1990–2009. A population based study. Laeknabladid 2011; 97; 537–542.
30. van den Heuvel MG, Lemmens VE, Verhoeven RH, de Hingh ICH. The incidence of mucinous appendiceal malignancies: a population-based study. Int. J. Colorectal Dis. 2013; 28; 1307–1310.
31. Carr NJ, McCarthy WF, Sobin LH. Epithelial noncarcinoid tumors and tumor-like lesions of the appendix: a clinicopathologic study of 184 patients with a multivariate analysis of prognostic factors. Cancer 1995; 75; 757–768.
32. Jarvinen P, Lepisto A. Clinical presentation of pseudomyxoma peritonei. Scand. J. Surg. 2010; 99; 213–216.
33. Yantiss RK, Shia J, Klimstra DS, Hahn HP, Odze RD, Misdraji J. Prognostic significance of localized extra-appendiceal mucin deposition in appendiceal mucinous neoplasms. Am. J. Surg. Pathol. 2009; 33; 248–255.
34. Pai RK, Hartman DJ, Gonzalo DH et al. Serrated lesions of the appendix frequently harbor KRAS mutations and not BRAF mutations indicating a distinctly different serrated neoplastic pathway in the appendix. Hum. Pathol. 2014; 45; 227–235.
35. Zauber P, Berman E, Marotta S, Sabbath-Solitare M, Bishop T. Ki-ras gene mutations are invariably present in low-grade mucinous tumors of the vermiform appendix. Scand. J. Gastroenterol. 2011; 46; 869–874.
36. van Eeden S, Offerhaus GJ, Hart AA et al. Goblet cell carcinoid of the appendix: a specific type of carcinoma. Histopathology 2007; 51; 763–773.
37. Nishikawa G, Sekine S, Ogawa R et al. Frequent GNAS mutations in low-grade appendiceal mucinous neoplasms. Br. J. Cancer 2013; 108; 951–958.
38. Yantiss RK, Panczykowski A, Misdraji J, Odze RD, Rennert H, Chen YT. A comprehensive study of nondysplastic and dysplastic serrated polyps of the vermiform appendix. Am. J. Surg. Pathol. 2007; 31; 1742–1753.
39. Younes M, Katikaneni PR, Lechago J. Association between mucosal hyperplasia of the appendix and adenocarcinoma of the colon. Histopathology 1995; 26; 33–37.
40. Upton MP. Looking through a keyhole: serrated neoplasia in the vermiform appendix. Am. J. Clin. Pathol. 2010; 133; 529–532.
41. Bateman AC, Shepherd NA. UK guidance for the pathological reporting of serrated lesions of the colorectum. J. Clin. Pathol. 2015; 68; 585–591.
42. Levine EA, Blazer DG, Kim MK et al. Gene expression profiling of peritoneal metastases from appendiceal and colon cancer demonstrates unique biological signatures and predicts patient outcomes. J. Am. Coll. Surg. 2012; 214; 599–606.
43. Yang HM, Mitchell JM, Sepulveda JL, Sepulveda AR. Molecular and histologic considerations in the assessment of serrated polyps. Arch. Pathol. Lab. Med. 2015; 139; 730–741.
44. Brierley JD, Gospodarowicz MK, Wittekind C. UICC (Union for International Cancer Control) TNM classification of malignant tumours. 8th ed. Oxford: John Wiley & Sons, 2017.
45. Taggart MW, Galbincea J, Mansfield PF et al. High-level microsatellite instability in appendiceal carcinomas. Am. J. Surg. Pathol. 2013; 37; 1192–1200.
46. Taggart MW, Abraham SC, Overman MJ, Mansfield PF, Rashid A. Goblet cell carcinoid tumor, mixed goblet cell carcinoid-adenocarcinoma, and adenocarcinoma of the appendix. Arch. Pathol. Lab. Med. 2015; 139; 782–790.
47. Noguchi R, Yano H, Gohda Y et al. Molecular profiles of high-grade and low-grade pseudomyxoma peritonei. Cancer Med. 2015; 4; 1809–1816.
48. Hara K, Saito T, Hayashi T et al. A mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix. Pathol. Res. Pract. 2015; 211; 657–664.
49. Singhi AD, Davison JM, Choudry HA et al. GNAS is frequently mutated in both low-grade and high-grade disseminated appendiceal mucinous neoplasms but does not affect survival. Hum. Pathol. 2014; 45; 1737–1743.
50. Hsu M, Young RH, Misdraji J. Ruptured appendiceal diverticula mimicking low-grade appendiceal mucinous neoplasms. Am. J. Surg. Pathol. 2009; 33; 1515–1521.
51. Stockl T, Ross JS, Walter O, Dresser K, Lee H. Appendiceal mucosal Schwann cell proliferation: a putative histologic marker of appendiceal diverticular disease. Int. J. Surg. Pathol. 2013; 21; 603–609.
52. Misdraji J, Lauwers GY, Irving JA, Batts KP, Young RH. Appendiceal or cecal endometriosis with intestinal metaplasia: a potential mimic of appendiceal mucinous neoplasms. Am. J. Surg. Pathol. 2014; 38; 698–705.
53. Mitchell A, Dube P, Sideris L. Dysplastic intestinal-type metaplasia of appendiceal endometriosis: a mimic of low grade appendiceal mucinous neoplasm. Diagn. Pathol. 2014; 9; 39.
54. Guo G, Greenson JK. Histopathology of interval (delayed) appendectomy specimens: strong association with granulomatous and xanthogranulomatous appendicitis. Am. J. Surg. Pathol. 2003; 27; 1147–1151.
55. Arnason T, Kamionek M, Yang M, Yantiss RK, Misdraji J. Significance of proximal margin involvement in low-grade appendiceal mucinous neoplasms. Arch. Pathol. Lab. Med. 2015; 139; 518–521.
56. Ronquillo N, Rafeeq S, Fournier K, Mansfield P, Taggart MW, Foo WC. Completion resections in LAMN with extra-appendiceal mucin and appendiceal margin involvement. Lab. Invest. 2016; 96; 196A.
57. Fournier K, Rafeeq S, Taggart M et al. Low-grade appendiceal mucinous neoplasm of uncertain malignant potential (LAMN-UMP): prognostic factors and implications for treatment and follow-up. Ann. Surg. Oncol. 2017; 24; 187–193.
58. Honore C, Caruso F, Dartigues P et al. Strategies for preventing pseudomyxoma peritonei after resection of a mucinous neoplasm of the appendix. Anticancer Res. 2015; 35; 4943–4948.
59. Sugarbaker PH. Pseudomyxoma peritonei: a cancer whose biology is characterized by a redistribution phenomenon. Ann. Surg. 1994; 219; 109–111.
60. Vang R, Gown AM, Zhao C et al. Ovarian mucinous tumors associated with mature cystic teratomas: morphologic and immunohistochemical analysis identifies a subset of potential teratomatous origin that shares features of lower gastrointestinal tract mucinous tumors more commonly encountered as secondary tumors in the ovary. Am. J. Surg. Pathol. 2007; 31; 854–869.
61. McKenney JK, Soslow RA, Longacre TA. Ovarian mature teratomas with mucinous epithelial neoplasms: morphologic heterogeneity and association with pseudomyxoma peritonei. Am. J. Surg. Pathol. 2008; 32; 645–655.
62. Choi YJ, Lee SH, Kim MS et al. Whole-exome sequencing identified the genetic origin of a mucinous neoplasm in a mature cystic teratoma. Pathology 2016; 48; 372–376.
63. Lee KR, Scully RE. Mucinous tumors of the ovary: a clinicopathologic study of 196 borderline tumors (of intestinal type) and carcinomas, including an evaluation of 11 cases with ‘pseudomyxoma peritonei’. Am. J. Surg. Pathol. 2000; 24; 1447–1464.
64. Pietrantonio F, Perrone F, Mennitto A et al. Toward the molecular dissection of peritoneal pseudomyxoma. Ann. Oncol. 2016; 27; 2097–2103.
65. Nummela P, Saarinen L, Thiel A et al. Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry. Int. J. Cancer 2015; 136; E282–E289.
66. Jackson SL, Fleming RA, Loggie BW, Geisinger KR. Gelatinous ascites: a cytohistologic study of pseudomyxoma peritonei in 67 patients. Mod. Pathol. 2001; 14; 664–667.
67. Enblad M, Birgisson H, Wanders A, Sköldberg F, Ghanipour L, Graf W. Importance of absent neoplastic epithelium in patients treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy. Ann. Surg. Oncol. 2016; 23; 1149–1156.
68. Leen SL, Singh N. Pathology of primary and metastatic mucinous ovarian neoplasms. J. Clin. Pathol. 2012; 65; 591–595.
69. Stewart CJ, Ardakani NM, Doherty DA, Young RH. An evaluation of the morphologic features of low-grade mucinous neoplasms of the appendix metastatic in the ovary and a comparison with primary ovarian mucinous tumors. Int. J. Gynecol. Pathol. 2014; 33; 1–10.
70. Strickland S, Parra-Herran C. Immunohistochemical characterization of appendiceal mucinous neoplasms and the value of special AT-rich sequence-binding protein 2 in their distinction from primary mucinous tumours. Histopathology 2016; 68; 977–987.
71. Moh M, Krings G, Ates D, Aysal A, Kim GE, Rabban JT. SATB expression distinguishes ovarian metastases of colorectal and appendiceal origin from primary ovarian tumors of mucinous or endometrioid type. Am. J. Surg. Pathol. 2016; 40; 419–432.
72. Cook DS, Attanoos RL, Jalloh SS, Gibbs AR. ‘Mucin-positive’ epithelial mesothelioma of the peritoneum: an unusual diagnostic pitfall. Histopathology 2000; 37; 33–36.
73. Facchetti F, Lonardi S, Gentili F et al. Claudin 4 identifies a wide spectrum of epithelial neoplasms and represents a very useful marker for carcinoma versus mesothelioma diagnosis in pleural and peritoneal biopsies and effusions. Virchows Arch. 2007; 451; 669–680.
74. Facchetti F, Gentili F, Lonardi S, Bercich L, Santin A. Claudin-4 in mesothelioma diagnosis. Histopathology 2007; 51; 261–263.
75. McCluggage WG, Kirk SJ. Pregnancy associated endometriosis with pronounced stromal myxoid change. J. Clin. Pathol. 2000; 53; 241–242.
76. Diaz L, Okonkwo A, Solans EP, Bedrossian C, Rao MS. Extensive myxoid change in well differentiated papillary mesothelioma of the pelvic peritoneum. Ann. Diagn. Pathol. 2002; 6; 164–167.