Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2021; 20: 42-54
Кистозная нефрома у детей: клинические и молекулярногенетические характеристики
https://doi.org/10.24287/1726-1708-2021-20-4-42-54Аннотация
Кистозная нефрома (КН) является редкой опухолью почек у пациентов детского возраста и входит в спектр новообразований в рамках наследственного DICER1-синдрома. Учитывая редкость данной патологии, актуальным является описание клинических, рентгенологических и молекулярногенетических характеристик КН у детей и подростков, а также анализ результатов терапии. В работе описан опыт ведения 8 пациентов с гистологически верифицированным диагнозом КН, которые получали лечение (n = 5) и консультировались (n = 3) в НМИЦ ДГОИ им. Дмитрия Рогачева за период с 2012 по 2020 г. (9 лет). Данное исследование одобрено независимым этическим комитетом и утверждено решением ученого совета НМИЦ ДГОИ им. Дмитрия Рогачева. Родители пациентов дали согласие на использование информации, в том числе фотографий детей, в научных исследованиях и публикациях. Была проведена ретроспективная оценка клинической картины, данных рентгенологического исследования, объема проведенной терапии, результатов лечения и молекулярно-генетической диагностики. Исследуемая группа включала пациентов в возрасте от 8,6 до 197 месяцев на момент постановки диагноза (медиана 14,2 месяца). Анализ первичных жалоб показал, что у 6 (75%) пациентов отмечалось увеличение окружности живота и определялось пальпируемое образование брюшной полости, у 1 (12,5%) – артериальная гипертензия, у 1 (12,5%) больного образование было выявлено в результате диагностического ультразвукового исследования органов брюшной полости. Согласно данным компьютерной томографии с внутривенным контрастированием КН описывалась как мультикистозное образование с тонкими перегородками, накапливающими контраст, его объем варьировал от 59,7 до 1293,1 см3 (медиана 626,3 см3 ). У всех пациентов гистологически был подтвержден диагноз КН. Оперативное лечение проводилось в объеме нефрэктомии (n = 6) или резекции пораженной почки (n = 2) с удалением опухоли. Часть пациентов (n = 5), включенных в настоящий анализ, по решению лечащих врачей получили курс предоперационной химиотерапии. Молекулярно-генетическое исследование проведено 7 больным: у 4/7 (57,1%) пациентов обнаружены соматические и герминальные мутации в гене DICER1. В семье 1 пациента выявлены носители патогенного варианта в гене DICER1. Медиана длительности наблюдения составила 17,6 мес (разброс 1,7–58,9 мес). В настоящее время все пациенты живы, рецидивов заболевания не отмечено. Рентгенологическое исследование позволяет выявить кистозное новообразование почки, что требует пересмотра данных визуализации в экспертных центрах по детской онкологии и включения в дифференциально-диагностический ряд КН. В качестве терапии первой линии выступает проведение инициальной операции. Окончательный диагноз устанавливается на основании результатов гистологического исследования ткани опухоли. Всем пациентам с подтвержденным диагнозом КН рекомендованы медико-генетическое консультирование и молекулярно-генетическое исследование на предмет наличия герминальных мутаций в гене DICER1 и формирования плана диспансерного наблюдения для раннего выявления других метахронных DICER1-ассоциированных опухолей.
Список литературы
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Pediatric Hematology/Oncology and Immunopathology. 2021; 20: 42-54
Pediatric cystic nephroma: clinical and molecular genetic characteristics
https://doi.org/10.24287/1726-1708-2021-20-4-42-54Abstract
Cystic nephroma (CN) is a rare renal tumor occurring in children which belongs to a group of neoplasms linked with the inherited DICER1 syndrome. Given the rarity of CNs, it is important to describe clinical, radiological, and molecular genetic characteristics of these tumors in children and adolescents as well as to analyze treatment outcomes. We present our experience in managing 8 patients with histologically verified CN who received treatment and consultations at the D. Rogachev NMRCPHOI over a period of 9 years (2012–2020). The study was approved by the Independent Ethics Committee and the Scientific Council of the D. Rogachev NMRCPHOI. The patients’ parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications. We performed a retrospective analysis of clinical presentation, radiological findings, the extent of treatment given to patients, treatment outcomes, and the results of molecular genetic testing. The study included patients aged between 8.6 and 197 months at diagnosis (the median age was 14.2 months). The analysis of initial complaints revealed that six patients (75%) had an increased abdominal girth and a palpable mass in the abdomen, one patient (12.5%) presented with arterial hypertension, and another patient (12.5%) had a mass detected by a routine abdominal ultrasound examination. On contrast-enhanced computed tomography scans, CNs appeared as multicystic masses with thin, contrast-enhancing septa; the CN volume ranged from 59.7 to 1293.1 cm3 (the median volume was 626.3 cm3 ). In all cases, the diagnosis of CN was verified histologically. Surgical treatment included nephrectomy (n = 6) or partial resection of the affected kidney (n = 2) with the removal of the tumor. Some patients (n = 5) included in our analysis received pre-operative chemotherapy at the discretion of their treating physicians. Molecular genetic testing was carried out for 7 children: 4 out of 7 patients (57.1%) were found to have somatic and germline mutations in the DICER1 gene. Carriers of pathogenic DICER1 variant were identified in the family of 1 patient. The median duration of follow-up was 17.6 months (range: 1.7 to 58.9 months). Currently, all patients are alive, no relapses have occurred. Cystic renal neoplasms detected by radiological investigations should be reviewed at the reference centers for pediatric oncological diseases and included CN in the differential diagnosis. Initial surgery is the first line of treatment for cystic nephroma. The final diagnosis is made on the basis of a histological examination of tumor tissue. All patients with confirmed CN should be referred for genetic counseling and molecular genetic testing for germline mutations in the DICER1 gene and should receive surveillance recommendations for the early detection of other metachronous DICER1-associated tumors.
References
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