c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic mast cell disease
| العنوان: | c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic mast cell disease |
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| المؤلفون: | S. Petrasch, B. J. Longley, U. Graeven, W. Schmiegel, Anke Reinacher-Schick, Christian Teschendorf |
| المصدر: | Annals of Hematology. 77:131-134 |
| بيانات النشر: | Springer Science and Business Media LLC, 1998. |
| سنة النشر: | 1998 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Hepatosplenomegaly, Proto-Oncogene Mas, Internal medicine, medicine, Humans, Systemic mastocytosis, Aged, Hematology, business.industry, Osteopetrosis, General Medicine, medicine.disease, Mast cell, Proto-Oncogene Proteins c-kit, medicine.anatomical_structure, Erythropoietin, Mutation, Immunology, Urticaria pigmentosa, Bone marrow, medicine.symptom, Tomography, X-Ray Computed, business, Mastocytosis, medicine.drug |
| الوصف: | We describe the case of a 69-year-old man with systemic mastocytosis and severe osteopetrosis who carries a somatic activating mutation in the c-kit proto-oncogene. The patient initially presented with urticaria pigmentosa, progressing to systemic mast cell disease with severe anemia due to bone marrow involvement, chronic diarrhea, and hepatosplenomegaly. Direct sequencing using amplimers from reverse transcriptase-polymerase chain reactions (RT-PCR) from skin mast cell-derived RNA revealed a point mutation in the c-kit proto-oncogene at position 2468, introducing a new recognition site for the restriction endonuclease HinfI. Treatment with interferon-alpha 2a, prednisone, and erythropoietin was initiated. Subsequently, clinical sysmptoms improved significantly and hemoglobin levels are now stable at 13 g/dl. |
| تدمد: | 1432-0584 0939-5555 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89444f38dc8a0b7b0b12fad4259f1371 https://doi.org/10.1007/s002770050428 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....89444f38dc8a0b7b0b12fad4259f1371 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 14320584 09395555 |
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