Unusual Microsatellite-Instable Mixed Neuroendocrine and Non-neuroendocrine Neoplasm: A Clinicopathological Inspection and Literature Review

被引:3
|
作者
Pereira, Daniela [1 ]
White, Daley [2 ]
Mortellaro, Michael [3 ]
Jiang, Kun [3 ,4 ,5 ]
机构
[1] Inst Portugues Oncol Francisco Gentil, Anat Pathol, Lisbon, Portugal
[2] H Lee Moffitt Canc Ctr & Res Inst, Biomed Lib, Tampa, FL USA
[3] Med Univ South Florida, Morsani Coll, Tampa, FL USA
[4] H Lee Moffitt Canc Ctr & Res Inst, Anat Pathol, Tampa, FL USA
[5] H Lee Moffitt Canc Ctr & Res Inst, Dept Anat Pathol, 12902 USF Magnolia Dr, Tampa, FL 33612 USA
关键词
minen; microsatellite; instability; gastrointestinal; mismatch; MISMATCH REPAIR STATUS; ADJUVANT CHEMOTHERAPY; GENETIC ALTERATIONS; COLORECTAL-CANCER; LYNCH SYNDROME; CARCINOMAS; COLON; TUMORS;
D O I
10.1177/10732748231160992
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
BackgroundMixed neuroendocrine and non-endocrine neoplasms (MiNENs) are challenging to diagnose and manage clinically. The current understanding of MiNENs' pathobiology, molecular mechanisms, and management is incomplete. Though microsatellite instability (MSI) is known to impact carcinogenesis, reports examining MSI mechanisms for MiNENs are rare.MethodsWe report an unusual colonic MSI-MiNEN uncovered in an 89-year-old woman and the review of the literature.ResultsPathologic inspection revealed a high-grade carcinoma composed of tumor cells with neuroendocrine histologic traits and immunophenotype intermixed with mucin-containing signet ring-like cells arranged in nested and micronodular patterns. Loss of MLH1 and PMS2 mismatch repair proteins was detected in tumor cells. INSM1 immunostaining highlighted about 50% of the tumour, further reinforcing the MiNEN diagnosis. Next-generation sequencing identified multiple carcinogenic mutations. Because of the advanced stage of the tumor and its adhesion to the adjacent organs, surgical resection was aborted; immunotherapy was initiated. The tumor is in remission 30 months following initiation of treatment, and the patient remains asymptomatic.ConclusionThis unique MSI MiNEN was characterized by its immunohistochemical and molecular signatures and illustrated how correctly diagnosing MSI can strongly improve a patient's outcomes.
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页数:8
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