Endometrial carcinoma with diffuse melanocytic differentiation: Clinicopathological and molecular analysis of a case with literature review and focus on differential diagnosis

Damiano Arciuolo; Antonio Travaglino; Angela Santoro; Antonio Raffone; Luigi Pedone Anchora; Francesco Fanfani; Frediano Inzani; Gian Franco Zannoni

doi:10.1016/j.prp.2022.154122

Endometrial carcinoma with diffuse melanocytic differentiation: Clinicopathological and molecular analysis of a case with literature review and focus on differential diagnosis

Pathol Res Pract. 2022 Oct:238:154122. doi: 10.1016/j.prp.2022.154122. Epub 2022 Sep 15.

Authors

Damiano Arciuolo¹, Antonio Travaglino², Angela Santoro³, Antonio Raffone⁴, Luigi Pedone Anchora⁵, Francesco Fanfani⁵, Frediano Inzani³, Gian Franco Zannoni⁶

Affiliations

¹ Pathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Pathology Institute, Catholic University of Sacred Heart, Rome, Italy.
² Pathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Pathology Unit, Department of Advanced Biomedical Sciences, School of Medicine, University of Naples Federico II, Naples, Italy.
³ Pathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
⁴ Division of Gynecology and Human Reproduction Physiopathology, Department of Medical and Surgical Sciences (DIMEC), IRCCS Azienda Ospedaliero-Univeristaria di Bologna, S. Orsola Hospital, University of Bologna, Via Massarenti 13, Bologna 40138, Italy.
⁵ Gynecologic Oncology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
⁶ Pathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Pathology Institute, Catholic University of Sacred Heart, Rome, Italy. Electronic address: gianfranco.zannoni@unicatt.it.

PMID: 36174440
DOI: 10.1016/j.prp.2022.154122

Abstract

Herein, we present a clinicopathological and molecular analysis of a case of endometrial carcinoma with diffuse melanocytic differentiation with literature review. A 72-year-old woman underwent hysterectomy due to a 14 cm endometrial mass. On histology, the tumor showed a serous carcinoma component and a solid component with giant eosinophilic and dyshesive multinucleated cells. Differential diagnosis included several entities, such as undifferentiated giant cell carcinoma and carcinosarcoma with rhabdomyoblasts. The solid component showed diffuse positivity for cytokeratin AE1/AE3, Melan A, Cathepsin K and S100, focal HMB45 positivity and loss of e-cadherin. The tumor was p53-abnormal, mismatch repair-proficient and POLE-wild-type. The patient had extrauterine metastases and was alive with disease at 12 months. Previous cases of endometrial and ovarian carcinomas with melanocytic differentiation (n = 7) did not show giant bizarre cells but showed melanin production; all cases were advanced and/or had unfavorable outcomes. In conclusion, endometrial carcinomas with melanocytic differentiation are highly aggressive tumors which should be distinguished from other entities. Being aware of this entity may help not to miss it.

Keywords: Carcinosarcoma; Endometrial carcinoma; Melanocytic; Melanoma; PEComa.

Publication types

Case Reports