BACKGROUND: Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. The standard of care is surgical resection. Observations suggest that low dose chemotherapy is beneficial. The treatment of resistant or relapsed patients with multifocal disease remains challenging. Patients that harbor an actionable mutation in the kinase domain are potential subjects for targeted tyrosine kinase inhibitor therapy. CASE PRESENTATION: An infant boy with inborn generalized infantile myofibromatosis that included bone, intracranial, soft tissue and visceral involvement was treated according to recent recommendations with low dose chemotherapy. The presence of a partial but temporary response led to a second line of treatment with six cycles of chemotherapy, which achieved a partial response again but was followed by severe toxicity. The generalized progression of the disease was observed later. Genetic analyses were performed and revealed a PDGFRB gene c.1681C>A missense heterozygous germline mutation, high PDGFRβ phosphokinase activity within the tumor and the heterozygous germline Slavic Nijmegen breakage syndrome 657del5 mutation in the NBN gene. Targeted treatment with sunitinib, the PDGFRβ inhibitor, plus low dose vinblastine led to an unexpected and durable response without toxicities or limitations to daily life activities. The presence of the Slavic NBN gene mutation limited standard chemotherapy dosing due to severe toxicities. Sister of the patient suffred from skull base tumor with same genotype and histology. The same targeted therapy led to similar quick and durable response. CONCLUSION: Progressive and resistant incurable infantile myofibromatosis can be successfully treated with the new approach described herein. Detailed insights into the biology of the patient's tumor and genome are necessary to understand the mechanisms of activity of less toxic and effective drugs except for up to date population-based chemotherapy regimens.

• Klíčová slova
• Case report, Chemotherapy, Infantile myofibromatosis, PDGFR, Theranostics, Tyrosine kinase inhibitor,
• MeSH
• chemorezistence účinky léků   genetika   MeSH
• cílená molekulární terapie metody   MeSH
• heterozygot MeSH
• indoly aplikace a dávkování   MeSH
• lidé MeSH
• myofibromatóza vrozené   farmakoterapie   genetika   metabolismus   MeSH
• novorozenec MeSH
• protokoly protinádorové kombinované chemoterapie terapeutické užití   MeSH
• pyrroly aplikace a dávkování   MeSH
• růstový faktor odvozený z trombocytů - receptor beta antagonisté a inhibitory   genetika   metabolismus   MeSH
• sunitinib MeSH
• vinblastin aplikace a dávkování   MeSH
• výsledek terapie MeSH
• zárodečné mutace * MeSH
• zdraví rodiny MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• indoly MeSH
• pyrroly MeSH
• růstový faktor odvozený z trombocytů - receptor beta MeSH
• sunitinib MeSH
• vinblastin MeSH

Research has exposed cancer to be a heterogeneous disease with a high degree of inter-tumoral and intra-tumoral variability. Individual tumors have unique profiles, and these molecular signatures make the use of traditional histology-based treatments problematic. The conventional diagnostic categories, while necessary for care, thwart the use of molecular information for treatment as molecular characteristics cross tissue types.This is compounded by the struggle to keep abreast the scientific advances made in all fields of science, and by the enormous challenge to organize, cross-reference, and apply molecular data for patient benefit. In order to supplement the site-specific, histology-driven diagnosis with genomic, proteomic and metabolomics information, a paradigm shift in diagnosis and treatment of patients is required.While most physicians are open and keen to use the emerging data for therapy, even those versed in molecular therapeutics are overwhelmed with the amount of available data. It is not surprising that even though The Human Genome Project was completed thirteen years ago, our patients have not benefited from the information. Physicians cannot, and should not be asked to process the gigabytes of genomic and proteomic information on their own in order to provide patients with safe therapies. The following consensus summary identifies the needed for practice changes, proposes potential solutions to the present crisis of informational overload, suggests ways of providing physicians with the tools necessary for interpreting patient specific molecular profiles, and facilitates the implementation of quantitative precision medicine. It also provides two case studies where this approach has been used.

• Klíčová slova
• genomics, metronomic chemotherapy, precision medicine, targeted therapy,
• MeSH
• dítě MeSH
• individualizovaná medicína * MeSH
• klinické zkoušky jako téma MeSH
• lékařská onkologie * MeSH
• lidé MeSH
• nádory farmakoterapie   genetika   MeSH
• protokoly protinádorové kombinované chemoterapie terapeutické užití   MeSH
• výzkumný projekt MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH