Undifferentiated endometrial carcinoma with SMARCA4 and MMR protein deficiency and diffuse expression of some neuroendocrine markers:report of a case
LIAO Chun-yuan
FENG Lan-lan
ZHANG Wei
ZHANG Fu-qin
LI Yan-hong
GONG Li
Abstract：Objective To investigate the clinicopathological features of uterine endometrial undifferentiated carcinoma (UEC) with co-deletion of SMARCA4 and MMR proteins and neuroendocrine expression. Methods A special case of UEC was collected and clinical data were summarized along with relevant literature. Results The patient was a 60-year-old female who presented with intermittent vaginal bleeding for more than three months. Hysteroscopy and magnetic resonance imaging showed an intrauterine mass, and the pathology biopsy from another hospital could not exclude carcinosarcoma. Microscopically, the tumor showed diffuse sheet-like growth with extensive 'map-like' necrosis, poor cell adhesion, high nuclear-cytoplasmic ratio, round and irregular nuclei, coarse granular chromatin, prominent nucleoli, and scant cytoplasm. Some tumor cells exhibited rhabdoid morphology, with active mitotic figures. Immunohistochemical staining showed focal positivity for broad-spectrum CK and CK18, and Syn positivity. PAX8, ER, PR, Vimentin, CgA, CD56, and INSM1 were all negative, p53 showed wild-type expression, and SMARCA4 as well as mismatch repair proteins MLH1/PMS2/MSH6 were absent. One-step sequencing revealed high microsatellite instability (MSI-H). Conclusion UEC is highly aggressive and has a poor prognosis, suggesting that clinicians should fully recognize its clinicopathological features and use immunohistochemistry and molecular pathological testing to improve diagnostic accuracy.
Keywords：Endometrial CancerUndifferentiated CarcinomaSMARCA4MMRNeuroendocrine
Publication Date：2025-01-27
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 67-69,102 )