Mixed Adenoneuroendocrine Carcinoma of the Colon: Molecular Pathogenesis and Treatment

被引：7

作者：

Vanacker, Leen ^{[1
]}

Smeets, Dominiek ^{[4
,5
]}

Hoorens, Anne ^{[3
]}

Teugels, Erik ^{[1
]}

Algaba, Roberto ^{[6
]}

Dehou, Marie Francoise ^{[6
]}

De Becker, Ann ^{[2
]}

Lambrechts, Diether ^{[4
,5
]}

De Greve, Jacques ^{[1
]}

机构：

[1] Dept Med Oncol, Lab Mol Oncol, Brussels, Belgium

[2] Dept Clin Hematol, Brussels, Belgium

[3] Dept Pathol, Brussels, Belgium

[4] Flemish Inst Biotechnol, Vesalius Res Canc, Leuven, Belgium

[5] Katholieke Univ Leuven, Dept Oncol, Lab Translat Genet, *, Belgium

[6] Iris Hosp South Campus Joseph Bracops, Dept Surg & Pathol, Brussels, Belgium

来源：

ANTICANCER RESEARCH | 2014年 / 34卷 / 10期

关键词：

Mixed adenoneuroendocrine carcinoma; MANEC; colorectal adenocarcinoma; exome sequencing; SMARCA4; autologous stem cell transplantation; high-dose chemotherapy; long-term survival; CANCER;

D O I：

暂无

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background/Aim: We report a case of a mixed adenoneuroendocrine carcinoma developed in a colorectal adenocarcinoma with lymph node and liver metastases exclusively emanating from the neuroendocrine carcinoma component. The patient underwent right hemicolectomy and postoperatively received chemotherapy with cisplatin and etoposide and subsequent high-dose induction chemotherapy, followed by autologous stem cell transplantation. Following this treatment, there was a complete remission. Currently, thirthy months after treatment, the patient is in unmaintained complete remission. Comparative exome sequencing of germline DNA and DNA from the two separate malignant components revealed six somatic changes in cancer consensus genes. Both components shared somatic mutations in Adenomatous polyposis coli (APC), Kirsten rat sarcoma viral oncogene homolog (KRAS), B-cell CLL/lymphoma 9 (BCL9) and Forkhead Box P1 (FOXP1) genes. Mutation in SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4) was only found in the neuroendocrine carcinoma component. The finding of several identical somatic mutations in both components supports a clonal relationship between the neuroendocrine carcinoma and the adenocarcinoma. We suggest that a mutation in SMARCA4 could be responsible for the transformation of the adenocarcinoma component into the neuroendocrine phenotype.

引用

页码：5517 / 5521

页数：5

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