Primary peritoneal malignant mixed Müllerian tumors. A clinicopathologic, immunohistochemical, and genetic study.
BACKGROUND
Primary peritoneal malignant mixed Müllerian tumors (MMMTs) are rarely reported in the literature.


METHODS
The clinical, pathologic, and immunohistochemical features of five cases of MMMT of female peritoneum were analyzed. The tumors were also investigated for expression of hormone receptors, specific BRCA-1 mutations, and clonality.


RESULTS
The patients' ages ranged from 33 to 67 years. They presented with abdominal pain or mass. One case of peritoneal MMMT was associated with a synchronous endometrial carcinoma whereas another case was detected 2 years after the diagnosis of a primary adenocarcinoma of the fallopian tube. One patient died 1 month after diagnosis whereas 2 patients died with disease within 1 year. Both carcinomatous and sarcomatous elements are present in all the tumors. Squamous differentiation was noted in two cases. Heterologous elements, including chondroid, rhabodomyoblastic, and osteoid differentiation were detected in all tumors. Immunohistochemical studies confirm the biphasic differentiation with variable demonstration of neural and smooth muscle differentiation. All five MMMTs were negative for estrogen and progestogen receptors although the related endometrial and tubal carcinomas were positive. Heteroduplex analysis used to screen for specific BRCA-1 mutations were negative in all five MMMTs. Clonality study of the two MMMTs found in association with endometrial carcinoma and tubal carcinoma was inconclusive.


CONCLUSIONS
Our study confirmed that primary peritoneal MMMTs were aggressive tumors with poor prognosis. The presence of synchronous or metachronous genital carcinomas suggests multifocal tumorigenesis from tissue of same embryologic origin. The lack of hormone receptor in these tumors indicates deviation from hormonal control. Specific BRCA-1 mutations found in ovarian carcinoma in Chinese patients could not be detected in our series.
Shen
D H
DH
Department of Pathology, People's Hospital, Beijing Medical University, Beijing, China.
Khoo
U S
US
Xue
W C
WC
Ngan
H Y
HY
Wang
J L
JL
Liu
V W
VW
Chan
Y K
YK
Cheung
A N
AN
D000328:Adult; D000368:Aged; D002454:Cell Differentiation; D002471:Cell Transformation, Neoplastic; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004273:DNA, Neoplasm / Q000032:analysis; D018450:Disease Progression; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D018200:Mixed Tumor, Mullerian / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D010534:Peritoneal Neoplasms / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D016133:Polymerase Chain Reaction; D011379:Prognosis
D017931:DNA Primers; D004273:DNA, Neoplasm