nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.17650/2311-1267-2017-4-4-13-19nodgo-329Research ArticleОригинальные исследованияDICER1-синдром и плевропульмональная бластома: отчет Международного регистра плевропульмональной бластомыDICER1 syndrome and pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma RegistryП. ШульцК. Э.P. SchultzK. A.

Международный регистр по изучению плевропульмонарной бластомы

Отделение рака и заболеваний крови

International Pleuropulmonary Blastoma Registry

Department of Cancer and Blood Disorders

Minneapolis, MN

ВилльямсГ. М.WilliamsG. M.

Международный регистр по изучению плевропульмонарной бластомы

Отделение рака и заболеваний крови

International Pleuropulmonary Blastoma Registry

Department of Cancer and Blood Disorders

Minneapolis, MN

КачановД. Ю.KachanovD. Yu.ВарфоломееваС. Р.VarfolomeevaS. R.ХиллЭ. Д.HillA. D.

Отдел патологии

Вашингтон

Washington, DC

ДенерЛ. П.DehnerL. P.

Лаборатория хирургической патологии Л.В. Акерман

Сент-Луис

Lauren V. Ackerman Laboratory of Surgical Pathology

St. Louis

МессингерЙ. Г.MessingerY. H.

Международный регистр по изучению плевропульмонарной бластомы

Отделение рака и заболеваний крови

 

International Pleuropulmonary Blastoma Registry

Department of Cancer and Blood Disorders

Minneapolis, MN

yoav.messinger@childrensmn.orgДетская больница МиннесотыСоединённые Штаты АмерикиChildren’s MinnesotaUnited StatesФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава РоссииРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian FederationНациональный детский медицинский центрСоединённые Штаты АмерикиDivision of Pathology Children’s National Medical CenterUnited StatesДетская больница Барнс-Джюиш и Сент-Луис Медицинский центр Вашингтонского университетаСоединённые Штаты АмерикиBarnes-Jewish and St. Louis Children’s Hospitals Washington University Medical CenterUnited States20173012201744919Copyright © П. Шульц К.Э., Вилльямс Г.М., Качанов Д.Ю., Варфоломеева С.Р., Хилл Э.Д., Денер Л.П., Мессингер Й.Г., 20172017П. Шульц К.Э., Вилльямс Г.М., Качанов Д.Ю., Варфоломеева С.Р., Хилл Э.Д., Денер Л.П., Мессингер Й.Г.P. Schultz K.A., Williams G.M., Kachanov D.Y., Varfolomeeva S.R., Hill A.D., Dehner L.P., Messinger Y.H.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/329

Плевропульмональная бластома (ППБ) наиболее частая опухоль легких у новорожденных и детей раннего возраста, которая ассоциирована с мутациями в гене DICER1. В дополнение к ППБ DICER1-ассоциированные состояния включают большое число других доброкачественных и злокачественных опухолей, в том числе кистозную нефрому и нефробластому, опухоль из клеток Сертоли–Лейдига и гинандробластому яичников, многоузловой зоб и рак щитовидной  железы, и среди прочего ряд опухолей мозга у детей. Ранняя идентификация лиц с  наибольшим риском DICER1-ассоциированных состояний может способствовать образованию  семей, оптимизации наблюдения за конкретными пациентами и определению DICER1- связанных опухолей и состояний в их самой ранней и наиболее куративной форме. Учитывая  редкость этих состояний, ведется и поощряется международное сотрудничество.

Pleuropulmonary blastoma (PPB) is the most common primary lung tumor of infants and young children and is known to be associated with pathogenic variants in the DICER1 gene. In addition to PPB,  DICER1-associated conditions include a variety of other benign and  malignant tumors including cystic nephroma and Wilms tumor, ovarian  Sertoli-Leydig cell tumor and gynandroblastoma, multinodular goiter  and thyroid carcinoma and certain childhood brain tumors among  others. Early identification of individuals most at risk for DICER1- associated conditions may allow family education, targeted surveillance  and identification of DICER1-related tumors and conditions in their  earliest and most curable form. Given the rarity of these conditions, international collaboration is underway and encouraged.

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The authors declare that there are no conflicts of interest present.