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PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors.
PRKAR1A 在心脏粘液瘤发展中的作用: 一项包括孤立性和综合征性肿瘤在内的 110 例病例的研究。

摘要

Cardiac myxoma usually occurs as a solitary mass, but occasionally develops as part of a familial syndrome, the Carney complex (CNC). Two thirds of CNC-associated cardiac myxomas exhibit mutations in PRKAR1A. PRKAR1A mutations occur in both familial and sporadic forms of CNC but have not been described in isolated (nonsyndromic) cardiac myxomas. A total of 127 consecutive cardiac myxomas surgically resected at Mayo Clinic (1993 to 2011) from 110 individuals were studied. Clinical, radiologic, and pathologic findings were reviewed. Of these, 103 patients had isolated cardiac myxomas, and 7 patients had the tumor as a component of CNC. Age and sex distributions were different for CNC (mean 26 y, range 14 to 44 y, 71% female) and non-CNC (mean 62 y, range 18 to 92 y, 63% female) patients. PRKAR1A immunohistochemical analysis (IHC) was performed, and myxoma cell reactivity was graded semiquantitatively. Bidirectional Sanger sequencing was performed in 3 CNC patients and 29 non-CNC patients, to test for the presence of mutations in all coding regions and intron/exon boundaries of the PRKAR1A gene. IHC staining showed that all 7 CNC cases lacked PRKAR1A antigenicity and that 33 (32%) isolated cardiac myxomas were similarly nonreactive. Of tumors subjected to sequencing analysis, 2 (67%) CNC myxomas and 9 (31%) non-CNC myxomas had pathogenic PRKAR1A mutations. No germline mutations were found in 4 non-CNC cases tested. PRKAR1A appears to play a role in the development of both syndromic and nonsyndromic cardiac myxomas. Routine IHC evaluation of cardiac myxomas for PRKAR1A expression may be useful in excluding a diagnosis of CNC. 

译文

心脏粘液瘤通常以孤立性肿块出现,但偶尔会发展为家族性综合征 -- 卡尼综合征 (CNC) 的一部分。3分之2 的 CNC 相关心脏粘液瘤在 PRKAR1A 中表现出突变。PRKAR1A 突变发生在家族性和散发性形式的 CNC 中,但尚未在孤立的 (非综合征型) 心脏粘液瘤中进行描述。研究了在梅奥诊所 (127 至 1993) 从 2011年个个体中连续手术切除的 110 个心脏粘液瘤。回顾了临床、放射学和病理学结果。其中,103 名患者患有孤立的心脏粘液瘤,7 名患者将肿瘤作为 CNC 的一个组成部分。CNC (平均 26 y,范围 14 至 44 y,71% 女性) 和非 CNC (平均 62 y,范围 18 至 92 y,63% 女性) 的年龄和性别分布不同病人。进行 PRKAR1A 免疫组织化学分析 (IHC),并对粘液瘤细胞反应性进行半定量分级。在 3 名 CNC 患者和 29 名非 CNC 患者中进行了双向 Sanger 测序,以测试 PRKAR1A 基因的所有编码区和内含子/外含子边界是否存在突变。IHC 染色显示所有 7 例 CNC 病例缺乏 PRKAR1A 抗原性,33 例 (32%) 孤立的心脏粘液瘤类似无反应。在接受测序分析的肿瘤中,2 (67%) 个 CNC 粘液瘤和 9 (31%) 个非 CNC 粘液瘤具有致病性 PRKAR1A 突变。在 4 个测试的非 CNC 病例中没有发现种系突变。PRKAR1A 似乎在综合征性和非综合征性心脏粘液瘤的发展中发挥作用。常规 IHC 评估心脏粘液瘤的 PRKAR1A 表达可能有助于排除 CNC 的诊断。

Cardiac myxoma

儿科 肿瘤 疾病
概述  :  

心脏粘液瘤为心脏内包块,最常发生在左心房,85%-90%的肿瘤从近卵圆窝的房间隔心内膜长出。其余大多数位于右心房。罕见于心室。多发肿瘤多发生在卵圆窝和心室以外的部位,通常为遗传性心脏粘液瘤,也有心脏粘液瘤发生在瓣膜和腱索上的病例报道,但非常罕见。免疫组化肿瘤细胞角蛋白(-),S-100有时(+),CD34,CD31有时(+),75%的calretinin表达(+)。临床表现1、血流动力学改变:较大者可阻塞瓣口,如二尖瓣口,造成狭窄或关闭不全。2、栓塞:黏液瘤表面的碎片或血栓脱落引起栓塞,一般

cardiac 英 /ˈkɑːdiæk/  美 /ˈkɑːrdiæk/

释    义   adj. 心脏的,心脏病的;(与)贲门(有关)的     

n. (非正式)心脏病患者;强心剂

例    句   Sudden cardiac arrest can strike anyone at any time, no matter their age or health status.  心脏骤停可以袭击任何人在任何时候,不管他们的年龄或健康状况。


myxoma 英 /mɪk'səʊmə/  美 /mɪk'somə/

释    义   n. [肿瘤] 粘液瘤

例    句   This high power microscopic aearance of cardiac myxoma shows minimal cellularity. Onlyscattered indle cells with scant pink cytoplasm are present in a loose myxoid stroma. 高倍镜可见心房粘液瘤极小的细胞结构,仅有散在的纺锤形细胞,在疏松的粘液样基质中有少量淡红的胞浆存在。

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