Molecular profiles of high-grade and low-grade pseudomyxoma peritonei.
Molecular profiles of high-grade and low-grade pseudomyxoma peritonei.
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DOI：
10.1002/cam4.542
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发表时间：
2015-12
期刊：
影响因子：
4
通讯作者：
Furukawa, Yoichi
中科院分区：
文献类型：
--
作者：
Noguchi, Rei;Yano, Hideaki;Gohda, Yoshimasa;Suda, Ryuichiro;Igari, Toru;Ohta, Yasunori;Yamashita, Naohide;Yamaguchi, Kiyoshi;Terakado, Yumi;Ikenoue, Tsuneo;Furukawa, Yoichi
腹膜假性黏液瘤（PMP）是一种罕见的疾病，表现出明显的临床特征，由癌细胞在腹腔内产生黏液引起。pmp最常发源于阑尾，较少发源于卵巢。这种疾病可以从良性到恶性，组织学上，PMP分为两种类型：弥散性腹膜腺瘤病（DPAM）代表轻度表型，腹膜粘液腺癌（PMCA）代表侵袭性表型。尽管组织学分类在临床上是有用的，但PMP的发病机制在很大程度上仍然未知。为了阐明PMP的分子机制，我们分析了18个PMP肿瘤，包括10个dpam和8个PMCAs。从肿瘤和匹配的非肿瘤组织中提取DNA，并使用包含50个癌症相关基因的Ion AmpliSeq Cancer Panel进行测序。数据分析鉴定出10个基因共35个体细胞突变，所有突变均判定为病理突变。KRAS（14/18）和GNAS（8/18）中经常发现突变。有趣的是，在8个PMCAs中的3个中发现了TP53突变，但在dpam中没有发现。PIK3CA和AKT1突变也在两个PMCAs中被发现，但在dpam中没有。这些结果表明，KRAS和/或GNAS突变是PMP的共同遗传特征，TP53和/或PI3K - AKT通路相关基因的突变可能导致PMP的恶性特性。这些发现可能有助于了解肿瘤的特征，并促进治疗策略的发展。
Pseudomyxoma peritonei (PMP) is a rare disease exhibiting a distinct clinical feature caused by cancerous cells that produce mucinous fluid in the abdominal cavity. PMPs originate most frequently from the appendix and less frequently from the ovary. This disease can range from benign to malignant, and histologically, PMP is classified into two types: disseminated peritoneal adenomucinosis (DPAM) representing the milder phenotype, and peritoneal mucinous adenocarcinomas (PMCA) representing the aggressive phenotype. Although histological classification is clinically useful, the pathogenesis of PMP remains largely unknown. To elucidate the molecular mechanisms underlying PMP, we analyzed 18 PMP tumors comprising 10 DPAMs and 8 PMCAs. DNA was extracted from tumor and matched non‐tumorous tissues, and was sequenced using Ion AmpliSeq Cancer Panel containing 50 cancer‐related genes. Analysis of the data identified a total of 35 somatic mutations in 10 genes, and all mutations were judged as pathological mutations. Mutations were frequently identified in KRAS (14/18) and GNAS (8/18). Interestingly, TP53 mutations were found in three of the eight PMCAs, but not in the DPAMs. PIK3CA and AKT1 mutations were also identified in two PMCAs, but not in the DPAMs. These results suggested that KRAS and/or GNAS mutations are common genetic features of PMP, and that mutations in TP53 and/or genes related to the PI3K‐AKT pathway may render malignant properties to PMP. These findings may be useful for the understanding of tumor characteristics, and facilitate the development of therapeutic strategies.
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低度阑尾粘液性肿瘤中常见的 GNAS 突变。
影响因子：
8.8
作者：
Nishikawa, G.;Sekine, S.;Ogawa, R.;Matsubara, A.;Mori, T.;Taniguchi, H.;Kushima, R.;Hiraoka, N.;Tsuta, K.;Tsuda, H.;Kanai, Y.
通讯作者：
Kanai, Y.
影响因子：
4.6
作者：
Furukawa, Toru;Kuboki, Yuko;Tanji, Etsuko;Yoshida, Shoko;Hatori, Takashi;Yamamoto, Masakazu;Shibata, Noriyuki;Shimizu, Kyoko;Kamatani, Naoyuki;Shiratori, Keiko
通讯作者：
Shiratori, Keiko
影响因子：
3.5
作者：
Sio, Terence T.;Mansfield, Aaron S.;Miller, Robert C.
通讯作者：
Miller, Robert C.
影响因子：
7.5
作者：
Corless, Christopher L.
通讯作者：
Corless, Christopher L.
影响因子：
7.5
作者：
Davison, Jon M.;Choudry, Haroon A.;Pai, Reetesh K.
通讯作者：
Pai, Reetesh K.