- Human pathology

Home > C. Tissular pathology > extramammary Paget disease

extramammary Paget disease

Friday 28 March 2008

extra-mammary Paget disease; EMPD



- Extramammary Paget disease.

Digital cases

- JRC:10823 : Extramammary Paget disease.


- cutaneous Paget disease
- vulvar Paget disease
- extramammary Paget disease in a retrorectal dermoid cyst (18367943)


Primary extramammary Paget’s disease is positive for CEA, CK7, CAM 5.2, GCDFP-15, Her2-neu, EMA and infrequently CK20.

Differential diagnosis

- urothelial carcinoma

  • IHC: positive for CK7, CK20 and uroplakin.

- primary anorectal adenocarcinoma

Differential diagnosis

- clear cell papulosis
- metastatic epidermotropic carcinoma
- melanocytic lesions
- Pagetoid actinic keratosis
- Pagetoid Bowen disease

Molecular biology

The mutations of MLH1 V384D (15.7%), R217C (4.1%), and I219V (5.2%) are common in this cancer. (27487738)

In a study, the yeast 2-hybrid and immunoprecipitation assays exhibited reduced interaction between MLH1 and PMS2 in MLH1 V384D and R217C but not I219V. (27487738)

Moreover, MLH1 V384D and R217C had impaired MMR activity compared with the wild-type and I219V mutation by an in vitro MMR assay. (27487738)

The germline mutations in MMR genes are involved in the pathogenesis of EMPD and partially explain the genetic abnormalities for this disease.


- Thway K, Polson A, Pope R, Thomas JM, Fisher C. Extramammary Paget Disease in a Retrorectal Dermoid Cyst: Report of a Unique Case. Am J Surg Pathol. 2008 Apr;32(4):635-639. PMID: 18367943