Nature clinical practice. Oncology · 2006
Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Cajaiba Mariana M, Bale Allen E, Alvarez-Franco Mayra, McNamara Joseph, Reyes-Múgica Miguel
Аннотация
BACKGROUND: A 5-year-old year girl with a medical history of mental retardation, physical abnormalities and a known interstitial deletion of chromosome 9q22-q32 presented with a palpable suprapubic mass. During ultrasound investigation, a left renal mass was also detected. The patient underwent surgical removal of both neoplasms, which were diagnosed as a rhabdomyosarcoma and a Wilms tumor. Seven years later, she presented with macroglossia and a benign mandibular cyst.
INVESTIGATIONS: Physical examination, karyotyping, abdominal and pelvic ultrasound, brain CT scan, anatomic pathology analysis with immunohistochemistry, and typing of polymorphic markers in the patched (PTCH) gene region.
DIAGNOSIS: Gorlin syndrome with synchronous rhabdomyosarcoma and Wilms tumor.
MANAGEMENT: Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.
INVESTIGATIONS: Physical examination, karyotyping, abdominal and pelvic ultrasound, brain CT scan, anatomic pathology analysis with immunohistochemistry, and typing of polymorphic markers in the patched (PTCH) gene region.
DIAGNOSIS: Gorlin syndrome with synchronous rhabdomyosarcoma and Wilms tumor.
MANAGEMENT: Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.