Clinical Oncology: Case Reports

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Miriam Elbracht Author

Subjects of specialization
Myofibromatosis, Thoracic Cancer, Medical Oncology, Ovarian Cancer.

Affiliation
Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Pauwelstrasse, Germany

Biography

Dr. Miriam Elbracht is working in the department and Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Pauwelstrasse, Germany. His specialization in the field of the Myofibromatosis, Thoracic Cancer, Medical Oncology, Ovarian Cancer.


Publications

Case Report Subscription

Aggressive Infantile Myofibromatosis with Intestinal Involvement

Author(s):

Tristan Romer, Norbert Wagner, Till Braunschweig, Robert Meyer, Miriam Elbracht, Udo Kontny  and Olga Moser

Infantile Myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM. We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy. PDGFRB-driven IM is clinically challenging due to its fluctuating course and multiple organ involvement in the first years of life. Early molecular genetic analysis is necessary to consider tyrosine kinase inhibitor treatment in case of aggressive visceral lesions.

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