DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.
DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.
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DOI：
10.1038/s41379-021-00905-8
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发表时间：
2022-01
期刊：
影响因子：
--
通讯作者：
Dehner LP
中科院分区：
文献类型：
--
作者：
González IA;Stewart DR;Schultz KAP;Field AP;Hill DA;Dehner LP
DICER1综合征(OMIM606241,601200)是一种罕见的常染色体显性遗传性家族性肿瘤遗传易感性疾病，具有杂合性DICER1种系突变。临床上最常见的肿瘤是胸膜肺母细胞瘤(PPB)，这是一种儿童早期的肺部肿瘤，根据其形态特征分为四种类型(IR、I、II和III型)，在出生后4-5年内，肿瘤从预后良好的囊性I型发展到预后不良的实性III型。继PPB的最初报告后，其与其他囊性肿瘤的相关性在家族性研究中得到证实。DICER1基因胚系突变的检测为鉴定和继续识别一些看似无关的肺外肿瘤提供了机会：支持间质细胞瘤、女性雄母细胞瘤、宫颈和其他部位的胚胎性横纹肌肉瘤、多结节性甲状腺肿、分化和低分化的甲状腺癌、颈部甲状腺畸胎瘤、肾的囊性肾间变性肉瘤、鼻软骨间充质错构瘤、肠道幼年样错构瘤样息肉、睫状体髓上皮瘤、垂体母细胞瘤、原发于中枢神经系统的肉瘤、胚胎性肿瘤伴多层旋转状小脑肿瘤、PPB样腹膜肉瘤、DICER1相关的肢前恶性畸胎样瘤和其他非肿瘤性关联。这些肿瘤中的每一种都具有DICER1的第二个体细胞突变。在这篇综述中，我们总结了这些肿瘤的显著临床病理特征，其组织病理学特征具有几个重叠的形态特征，特别是原始间充质，通常伴有横纹肌肉母细胞和软骨样分化，以及未定形的梭形细胞模式。这些肿瘤中有几个具有最初的囊性阶段，从囊性阶段进展为高级别、复杂花纹的肿瘤。在适当的临床环境下，这些病理发现应该有助于提醒病理学家注意DICER1相关肿瘤的可能性，并开始对肿瘤进行适当的检测，并提醒临床医生对DICER1突变的关注。
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4–5 years of life from the prognostically favorable cystic type I to the unfavorable solid type III. Following the initial report of PPB, its association with other cystic neoplasms was demonstrated in family studies. The detection of the germline mutation in DICER1 provided the opportunity to identify and continue to recognize a number seemingly unrelated extrapulmonary neoplasms: Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Each of these neoplasms is characterized by a second somatic mutation in DICER1. In this review, we have summarized the salient clinicopathologic aspects of these tumors whose histopathologic features have several overlapping morphologic attributes particularly the primitive mesenchyme often with rhabdomyoblastic and chondroid differentiation and an uncommitted spindle cell pattern. Several of these tumors have an initial cystic stage from which there is progression to a high grade, complex patterned neoplasm. These pathologic findings in the appropriate clinical setting should serve to alert the pathologist to the possibility of a DICER1-associated neoplasm and initiate appropriate testing on the neoplasm and to alert the clinician about the concern for a DICER1 mutation.
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DOI：
10.1016/j.ijporl.2015.07.042
发表时间：
2015-12-01
影响因子：
1.5
作者：
Alexander, Victoria Rebecca Carol;Manjaly, Joseph George;Hartley, Benjamin E. J.
通讯作者：
Hartley, Benjamin E. J.
影响因子：
4.1
作者：
Apellaniz-Ruiz, Maria;Cullinan, Noelle;Foulkes, William D.
通讯作者：
Foulkes, William D.
影响因子：
7.6
作者：
Cao H;Wang J;Li X;Florez S;Huang Z;Venugopalan SR;Elangovan S;Skobe Z;Margolis HC;Martin JF;Amendt BA
通讯作者：
Amendt BA
影响因子：
11.8
作者：
Costantini, Frank;Kopan, Raphael
通讯作者：
Kopan, Raphael
影响因子：
4.2
作者：
BROUGHTON, WL;ZIMMERMAN, LE
通讯作者：
ZIMMERMAN, LE