Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications

被引：17

作者：

Addante, Francesca ^{[1
,2
]}

d'Amati, Antonio ^{[1
,2
,3
]}

Santoro, Angela ^{[1
,4
]}

Angelico, Giuseppe ^{[5
]}

Inzani, Frediano ^{[6
,7
]}

Arciuolo, Damiano ^{[1
]}

Travaglino, Antonio ^{[8
]}

Raffone, Antonio ^{[9
]}

D'Alessandris, Nicoletta ^{[1
]}

Scaglione, Giulia ^{[1
]}

Valente, Michele ^{[1
]}

Tinnirello, Giordana ^{[5
]}

Sfregola, Stefania ^{[1
]}

Urtueta, Belen Padial ^{[1
]}

Piermattei, Alessia ^{[1
]}

Cianfrini, Federica ^{[1
]}

Mule, Antonino ^{[1
]}

Bragantini, Emma ^{[10
]}

Zannoni, Gian Franco ^{[1
,4
]}

机构：

[1] Fdn Policlin Univ A Gemelli IRCCS, Dipartimento Sci Salute Donna Bambino & Sanita Pub, Unita Ginecopatol & Patol Mammaria, Largo A Gemelli 8, I-00168 Rome, Italy

[2] Univ Bari Aldo Moro, Dept Precis & Regenerat Med & Ionian Area, Unit Anat Pathol, Piazza Giulio Cesare 11, I-70124 Bari, Italy

[3] Univ Bari Aldo Moro, Dept Translat Biomed & Neurosci DiBraiN, Unit Human Anat & Histol, Piazza Giulio Cesare 11, I-70124 Bari, Italy

[4] Univ Cattolica Sacro Cuore, Ist Anat Patolog, Largo A Gemelli 8, I-00168 Rome, Italy

[5] Univ Catania, Dept Med & Surg Sci & Adv Technol G F Ingrassia, Anat Pathol, I-95123 Catania, Italy

[6] Univ Pavia, Dept Mol Med, Anat Pathol Unit, I-27100 Pavia, Italy

[7] Fdn IRCCS San Matteo Hosp, I-27100 Pavia, Italy

[8] Univ Insubria, Dept Med & Technol Innovat, Pathol Unit, I-21100 Varese, Italy

[9] Univ Naples Federico II, Dept Publ Hlth, Gynecol & Obstet Unit, I-80138 Naples, Italy

[10] Osped S Chiara, Dept Surg Pathol, Largo Medaglie Oro 9, I-38122 Trento, Italy

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2024年 / 25卷 / 02期

关键词：

MSI; MMR deficiency; endometrial cancer; histomolecular prognostic risk assessment; immunotherapy; CLEAR-CELL CARCINOMA; MICROSATELLITE INSTABILITY; MOLECULAR CHARACTERIZATION; LYNCH-SYNDROME; MUTATION PROFILES; SEROUS CARCINOMA; RISK-ASSESSMENT; GENE-MUTATIONS; UTERINE; CLASSIFICATION;

D O I：

10.3390/ijms25021056

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Among the four endometrial cancer (EC) TCGA molecular groups, the MSI/hypermutated group represents an important percentage of tumors (30%), including different histotypes, and generally confers an intermediate prognosis for affected women, also providing new immunotherapeutic strategies. Immunohistochemistry for MMR proteins (MLH1, MSH2, MSH6 and PMS2) has become the optimal diagnostic MSI surrogate worldwide. This review aims to provide state-of-the-art knowledge on MMR deficiency/MSI in EC and to clarify the pathological assessment, interpretation pitfalls and reporting of MMR status.

引用

页数：23

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