更新于：2024-09-19

Pleuropulmonary Blastoma

胸膜肺母细胞瘤

更新于：2024-09-19

基本信息

别名

PLEUROPULMONARY BLASTOMA、PPB、PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME

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简介

A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.

关联

项与胸膜肺母细胞瘤相关的临床试验

ChiCTR1900024756 / SuspendedN/A

A registry study of pleuropulmonary blastoma and Dicer 1 related conditions

开始日期2019-08-01

申办/合作机构

National Children's Center, Inc.

NCT03681522 / Unknown statusN/A

What is the Most Effective Local Anesthesia for Prostate-stained Ultrasonography-guided Biopsy in PPB and PNB?: A Single Center, Prospective, Randomized, Double Arm Study

This study assesses differences in the effects of pelvic plexus block and periprostatic nerve block among various anesthetic methods that reduce the pain caused by prostate biopsy.

开始日期2018-09-10

申办/合作机构

Gangnam Severance Hospital

NCT03044834 / CompletedN/AIIT

Review of the Paediatric Pleuropulmonary Blastoma French Series

Pleuropulmonary blastoma is a rare embryonic malignant tumour that remains the most frequent malignant tumour of the lung in childhood. The International Pleuro pulmonary Blastoma Registry (IPPB) found only 220 cases in 2009 and 350 in 2015. In France, 20 cases were identified in 2009.
Three histologies are described: type 1 purely cystic, type 2 combined and type 3 solid. Median age at diagnostic is 12 months, 35 months and 41 months respectively. Evolution is possible from type 1 to type 2 or 3 in 10% of the cases.
Since 2009, DICER 1 mutations research is proposed systematically to all families.
PPB symptoms are usually non-specific. Diagnostic is evoked when imaging work up shows bubbles or solid lesions, and confirmed by pathological analysis. However the diagnosis can be difficult because of the proximity with congenital cystic adenomatoid malformation.
The French society of paediatric oncology recommends surgery at first instance. PPB type 1 remains a problem because some are still misdiagnosed as CCAM, a benign lesion. Chemotherapy depends on the PPB type and the quality of the resection. There is a real interest to analyse the French series.
The prognosis of type 2 and 3 is low with a 5 years survival rate of 45-60%, whereas type 1 survival rate is 91%. The French experience reports a 100% survival rate in type 1 and 48% in type 2 and 3. Other prognostic factors are initial size of the tumour, extra pulmonary invasion and quality of surgery.
Early local relapses are possible and late ones concern more often type 2 and 3 with more cerebral metastasis.
In 2009, the french cases were collected, but no update has been performed since. The aim of this retrospective review of the cases since 2000, is to audit the care of PPB patients in France and update the French rare tumour database.
Evoking PPB diagnosis is difficult when imaging shows a neonatal cystic lesion. There are no radiologic criteria in the literature that differentiate congenital pulmonary cystic lesion and PPB type 1. Radiological presentation is however overlapping. Another aim of this study will be to look for a predictive sign of type 1 PPB.

开始日期2017-01-09

申办/合作机构

Centre Hospitalier Universitaire de Rennes

100 项与胸膜肺母细胞瘤相关的临床结果

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100 项与胸膜肺母细胞瘤相关的转化医学

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0 项与胸膜肺母细胞瘤相关的专利（医药）

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750

项与胸膜肺母细胞瘤相关的文献（医药）

2024-04-01·Gastrointestinal endoscopy clinics of North America

Updates on the Prevention and Management of Post-Polypectomy Bleeding in the Colon.

Review

作者: Hisham Wehbe ; Aditya Gutta ; Mark A Gromski

Post-polypectomy bleeding (PPB) remains a significant procedure-related complication, with multiple risk factors determining the risk including patient demographics, polyp characteristics, endoscopist expertise, and techniques of polypectomy. Immediate PPB is usually treated promptly, but management of delayed PPB can be challenging. Cold snare polypectomy is the optimal technique for small sessile polyps with hot snare polypectomy for pedunculated and large sessile polyps. Topical hemostatic powders and gels are being investigated for the prevention and management of PPB. Further studies are needed to compare these topical agents with conventional therapy.

2024-01-13·Cancers

Expanding Our Knowledge of DICER1 Gene Alterations and Their Role in Thyroid Diseases.

Review

作者: Maria Cristina Riascos ; Anh Huynh ; William C Faquin ; Vania Nosé

Mutations in DICER1, a gene involved in RNA interference, have been associated with a wide range of multi-organ neoplastic and non-neoplastic conditions. Historically known for its association with pleuropulmonary blastoma, DICER1 syndrome has received more attention due to the association with newly discovered diseases and tumors. Recent studies evaluating DICER1 mutations and DICER1-driven thyroid disease in both pediatric and adult thyroid nodules revealed thyroid disease as the most common manifestation of DICER1 mutations. This study undertakes a comprehensive investigation into DICER1 mutations, focusing on their role in thyroid diseases. Specific attention was given to thyroid follicular nodular disease and differentiated thyroid carcinomas in infancy as highly indicative of germline DICER1 mutation or DICER1 syndrome. Additionally, poorly differentiated thyroid carcinoma and thyroblastoma were identified as potential indicators of somatic DICER1 mutations. Recognizing these manifestations should prompt clinicians to expedite genetic evaluation for this neoplastic syndrome and classify these patients as high risk for additional multi-organ malignancies. This study comprehensively synthesizes the current knowledge surrounding this genetically associated entity, providing intricate details on histologic findings to facilitate its diagnosis.

2023-12-05·The American journal of surgical pathology

Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.

Article

作者: Anne-Laure Chong ; Paul Thorner ; Michelle Ellis ; Jeff Swensen ; Naciba Benlimame ; Pierre-Olivier Fiset ; Zoran Gatalica ; Mark G Evans ; William D Foulkes

Germline and somatic pathogenic variants (PVs) in DICER1, encoding a miRNA biogenesis protein, are associated with a wide variety of highly specific pathologic entities. The lung tumors pleuropulmonary blastoma, pulmonary blastoma (PB), and well-differentiated fetal lung adenocarcinoma (WDFLAC) are all known to harbor DICER1 biallelic variants (loss of function and/or somatic hotspot missense mutations), and all share pathologic features reminiscent of the immature lung. However, the role of DICER1 PVs in non-small cell lung cancer (NSCLC) is relatively unknown. Here, we aimed to establish the spectrum of lung pathologies associated with DICER1 hotspot PVs and to compare the mutational landscape of DICER1-mutated NSCLC with and without hotspots. We queried DNA sequencing data from 12,146 NSCLCs featuring somatic DICER1 variants. 235 (1.9%) cases harboring ≥ 1 DICER1 PV were found and 9/235 (3.8%) were DICER1 hotspot-positive cases. Histologic review of DICER1 hotspot-positive cases showed that all but one tumor were classified as within the histologic spectrum of PB/WDFLAC, whereas all the DICER1 non-hotspot double variants were classified as lung adenocarcinomas, not otherwise specified. Comparison between the mutational landscape of DICER1 hotspot-positive and hotspot-negative cases revealed a higher frequency of CTNNB1 mutations in the hotspot-positive cases (5/9 vs. 2/225; P<0.00001). We conclude that DICER1 somatic hotspots are not implicated in the most common forms of NSCLC but rather select for morphologic features of lung tumor types such as PB and WDFLAC. As a corollary, cases showing this tumor morphology should undergo testing for DICER1 variants, and if positive, genetic counseling should be considered.

项与胸膜肺母细胞瘤相关的新闻（医药）

2023-04-18

·PRNewswire

Star Gala inspires record-breaking donations to support life-saving resources for Children's Minnesota cancer and blood disorders program

MINNEAPOLIS and ST. PAUL, Minn., April 17, 2023 /PRNewswire/ -- Children's Minnesota announced today that a record-breaking $2.36 million was raised at this year's Star Gala – one of the biggest nights of the year for the philanthropic community in the Twin Cities. The 31st annual Star Gala benefited the Children's Minnesota cancer and blood disorders program, the largest program of its kind in the Upper Midwest. The event, hosted by KARE 11's Belinda Jensen, brought business leaders, philanthropists and community members to The Depot in Minneapolis on Saturday, April 15 to raise vital funds that will be invested in life-saving resources, wrap-around services for patient families, and cutting-edge cancer and blood disorders research. "Our program offers advanced, individualized care for our patients because we know that not every cancer and blood disorder diagnosis is the same. We also have the largest clinical research staff in the region, and we participate in over 100 research studies, meaning our patients have access to innovative treatments before they're widely available," said Dr. Sue Kearney, medical director of the cancer and blood disorders program. "We are grateful for the generosity of our community. Their support of our program allows us to continue advancing the treatment of cancer and blood disorders and provide the highly specialized care that can get kids on the road to recovery." To support Children's Minnesota, visit ChildrensMN.org/StarGala. The cancer and blood disorders program at Children's Minnesota cares for more than 3,500 patients from infants to young adults each year, including more than 80 percent of Minnesota children with sickle cell disease or hemoglobinopathies and other hemophilia diagnoses. Children's Minnesota is a part of the Therapeutic Advances in Childhood Leukemia & Lymphoma (TACL) consortium, which offers eligible patients with recurrent leukemias and lymphomas access to early studies of new drugs. The program is also a member of the Pacific Pediatric Neuro-Oncology Consortium (PNOC), which is made up of 18 children's hospitals dedicated to improving the outcomes for children with brain and spinal cord tumors. In addition, Children's Minnesota is home to the International Ovarian and Testicular Stromal Tumor Registry and International Pleuropulmonary Blastoma/DICER1 Registry. The registries collect clinical and biological information about these rare tumors in order to improve treatment and screening. The Star Gala was made possible by presenting sponsor APi Group. Other top sponsors at this year's event include: Baird Private Wealth Management and Great Clips. About Children's Minnesota Children's Minnesota is one of the largest pediatric health systems in the United States and the only health system in Minnesota to provide care exclusively to children, from before birth through young adulthood. An independent and not-for-profit system since 1924, Children's Minnesota serves kids throughout the Upper Midwest at two free-standing hospitals, nine primary care clinics, multiple specialty clinics and seven rehabilitation sites. As The Kids ExpertsTM, Children's Minnesota is regularly ranked by U.S. News & World Report as a top children's hospital. Find us on Facebook @childrensminnesota or on Twitter and Instagram @childrensmn. Please visit childrensMN.org. SOURCE Children's Minnesota

2021-06-20

·罗氏中国

“罗氏儿童义走”迈入第十二年，为重疾患儿再度“汇爱云端”

上海, 21.06.2021 近日，罗氏制药再度携手爱佑慈善基金会，共同启动“2021年罗氏儿童义走”，并为爱配捐100万元，给全国范围内符合条件的困难重疾患儿带去爱的希望。这也是罗氏人在中国开展这一公益项目的第十二个年头。 “罗氏儿童义走”是由罗氏全球发起的企业社会责任项目，每年六月在罗氏全球同步展开，通过义走和捐款的形式为弱势儿童提供帮助。去年，受疫情影响，“罗氏儿童义走”在中国首次以“云端义走”的形式，通过腾讯公益平台，面向公众发起线上捐步活动，让爱心突破时空桎梏，超过六万人次爱心人士参与其中。今年，活动将延续线上公益捐步的形式，爱心人士每捐1000步，罗氏将配捐1元善款，直到达成100万元的配捐目标。所有善款将纳入爱佑慈善基金会下的“罗氏儿童义走专项计划”，为全国范围内符合条件的困难重疾患儿提供医疗救助与人文关爱，给予他们身心的双重守护。响应国家号召，为困难重疾患儿提供身心双重关爱儿童健康是全民健康的基础，但一些重大疾病，如儿童先天性心脏病、血液病、恶性肿瘤等给患儿及家庭带来了严峻挑战。这些疾病往往治疗难度大、周期长、家庭负担重，仅靠医保政策无法全部覆盖，很多经济困难的家庭只能无奈选择放弃治疗。同时，就医过程中，患儿及家长还易产生负面情绪和沉重的心理负担，这对长期的治疗过程和康复效果，都会带来不良影响。近年来，国家对儿童重大疾病问题高度重视，不断扩大纳入相关救治管理工作的病种范围。为积极响应国家号召，也为帮助更多亟待援手的孩子，“罗氏儿童义走”2021年继续前行。通过与爱佑慈善基金会的合作，项目将覆盖全国多家救治儿童重大疾病的医疗机构，为符合条件的患儿提供医疗救助。此外，针对患儿及家长存在的情绪及心理负担问题，此次项目着眼人文医疗，将准备数千份“爱心住院包”定向发放给住院患儿。“爱心住院包”中包含住院游戏探险地图、家长照料笔记本、画纸画笔、口罩等帮助患儿入院适应的小道具和帮助家庭住院生活的贴心礼物，希望能缓解患儿住院治疗的恐惧情绪，给予他们从身到心的全方位关爱与支持。十二载初心不变，助力患儿及家庭“走”出困境 “罗氏儿童义走”已在中国“走”过了十二年，曾帮助数以千计的孩子与他们的家庭重获生活的信心、乃至生命的希望。在刚刚过去的2020年里，“罗氏儿童义走专项计划”救助了来自17个省/自治区41名家庭困难的患儿，涵盖十余种重疾。他们中年龄最大的患儿17岁，最小的不足周岁。今年快五岁的小可（化名）就是其中之一，她的童年因骨肉瘤蒙上了一层阴影，年幼的她经历了多次化疗和手术，长期卧床不能行走，高昂的费用也让这个困难的家庭无力承担。危急关头，“罗氏儿童义走专项计划”向小可一家伸出了援手，给了他们继续坚持下去的力量；面临相似境遇的还有湖南岳阳的小女孩西西（化名），胸膜肺母细胞瘤复发的消息如晴天霹雳“袭击”了她和她的家庭，虽然定制化的治疗能最大限度为她保留完整的肺，但治疗费用却让西西的父母发愁。正逢此时，“罗氏儿童义走专项计划”以切实的援助让西西一家走出了困境。小可和西西的故事，是数以千计受助患儿的缩影，也是“罗氏儿童义走”十二载初心不变的见证。罗氏制药践行“立足中国，造福中国”的发展理念，在将创新药物不断引进中国的同时，亦聚焦企业社会责任，积极支持公益、回馈社会。 “罗氏儿童义走”自2010年“步入”中国以来，已累计捐助善款600余万元，救助儿童超过1600人次。罗氏制药中国总裁周虹女士表示：“很高兴能见证‘罗氏儿童义走’的‘十二岁’，这背后是罗氏人对企业社会责任的付出与坚持。感谢参与和支持过‘罗氏儿童义走’的每一个人。随着项目的不断成长，我们身边的‘公益同行者’越来越多，这些汇聚的爱心与力量，将帮助更多重疾患儿‘走’出困境，获得希望。” “爱佑在儿童医疗领域深耕多年，致力于系统化解决中国重大疾病患儿所面临的主要问题。”爱佑慈善基金会执行秘书长孙伟女士表示，“今年是我们与罗氏制药携手的第二年，我们希望能通过更默契深入的合作、更创新多元的救助形式，为重疾患儿及其家庭带来切实的帮助，给孩子们一个可期的未来。” 扫码捐步至腾讯公益扫码捐款至爱佑慈善基金会每走1000步就相当于捐赠1元，和我们“益”起传递爱关于爱佑慈善基金会爱佑慈善基金会是国家级5A公募基金会，由企业家发起并管理运作，经过十余年的发展，爱佑在儿童公益领域形成专业的救助及服务模式，积极撬动社会力量，围绕儿童医疗和儿童福利两大议题，探索和实践系统化的解决方案。爱佑曾四次获得慈善领域最高政府奖“中华慈善奖”，被民政部授予“全国先进社会组织”称号、曾获《福布斯》中国慈善基金会排行榜第一名、责任中国“公益组织奖”，并连续多年获得中基透明指数满分。爱佑儿童医疗从医疗救助、诊疗提升、患儿支持三方面着手，解决重大疾病患儿及家庭所面临的“看不起、治不好、痛苦大”的问题。截至2021年4月底，累计救助困难家庭患儿超过71,000人。