Abstract
The clinicopathological, immunohistochemical, and molecular characteristics of α-fetoprotein (AFP)-producing endometrial carcinoma (AFP+ EC) are poorly understood. From 284 cases of endometrial carcinoma in our pathology archive, we identified five cases (1.8%) of AFP+ EC with fetal gut–like (4/5) and/or hepatoid (2/5) morphology. All cases exhibited lymphovascular infiltration. In addition, 24 cases of endometrial carcinoma with elevated serum AFP levels were retrieved from the literature. The patient age ranged from 44 to 86 years (median: 63). Of 26 cases whose FIGO (International Federation of Gynecology and Obstetrics) stage and follow-up information was available (mean follow-up 24 months), 15 were stage I or II and 11 were stage III or IV. Even in stage I or II disease, death or relapse occurred in more than half of the patients (8/15). Detailed analysis of our five cases revealed that, on immunohistochemistry, AFP+ EC was positive for SALL4 (4/5), AFP (3/5), and HNF1β (4/5) in >50% of neoplastic cells and negative for estrogen and progesterone receptors (5/5), PAX8 (4/5), and napsin A (5/5). Four cases exhibited aberrant p53 immunohistochemistry and were confirmed to harbor TP53 mutations by direct sequencing. No mutation was found in POLE, CTNNB1, or KRAS. In conclusion, AFP+ EC merits recognition as a distinct subtype of endometrial carcinoma, which occurs in 1.8% of endometrial carcinoma cases, are associated with TP53 abnormalities, exhibit lymphovascular infiltration, and can show distant metastasis even when treated in early stage.
Highlights
Alpha-fetoprotein (AFP), an oncofetal protein that is physiologically produced by the liver, yolk sac, and gut during the prenatal period [1], is known to be produced in specific types of tumors
We reviewed cases of AFP-producing endometrial carcinoma (AFP+ EC) reported in the literature and performed detailed pathological, immunohistochemical, and molecular analyses of five cases from our pathology archive
AFP+ EC, α-fetoprotein-producing formalin-fixed paraffin-embedded; of Gynecology and Obstetrics; neoplasms that underwent hysterectomy at Kindai University Hospital between 2015 and 2020 were identified and pathology slides were retrieved from the pathology archive
Summary
Alpha-fetoprotein (AFP), an oncofetal protein that is physiologically produced by the liver, yolk sac, and gut during the prenatal period [1], is known to be produced in specific types of tumors. These include hepatoid carcinoma, unspecified adenocarcinoma with AFP production, and yolk sac tumor. AFP-producing endometrial carcinoma (AFP+ EC) [6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28], which can be defined to include endometrial hepatoid carcinoma [10,11,12,13,14,15,16, 19,20,21, 24,25,26,27,28] and adenocarcinoma with AFP production [6,7,8,9, 17, 18, 22, 23], are known only in scattered case reports. A few reports have characterized their cases of AFP-producing adenocarcinoma as endometrioid carcinoma [18, 22], though relevant immunohistochemistry (IHC) is rarely reported
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