case1 - Human Genetics And Genetic Diseases Acute...

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Unformatted text preview: Human Genetics And Genetic Diseases Acute Lymphoblastic Leukemia Acute Lymphoblastic Leukemia (ALL) (ALL) Work College Sarah Devriese, Kaat Durinck, Jasper Jacobs, Tom Van Nieuwenhuysen 1 Case 1 Case 1 A 4-year old girl is referred to the departement of pediatric hemato- oncology with the suspicion of ukemia n cute mphoblastic leukemia. An acute lymphoblastic leukemia (ALL) is diagnosed. The leukemic cells display the genotype: t(4;11)(q21;q23) 2 Contents Contents r What is ALL? r Signs and symptoms r Diagnosis r t(4;11)(q21;q23): meaning r t(4;11)(q21;q23): diagnostic tools r Treatment r Prognosis 3 What is leukemia? What is leukemia? r cancer of the blood (leukocytes) r abnormal proliferation c accumulation of non-functional cells r causes: c in utero exposure to radiation c viruses c chemicals (including previous chemotherapy) c mutations 4 What is ALL? What is ALL? r acute : rapid increase immature leukocytes r lymphoblastic : mutation in lymphocyte precursor cell (B or T) r most common cancer in children r also in the elderly (>65 years) 5 Symptoms of ALL Symptoms of ALL • frequent or unexplained fever and infections • weight loss and/or loss of appetite • generalized weakness and fatigue • anemia and the resulting paleness asy and unexplained bruising and bleeding • easy and unexplained bruising and bleeding • tiny red spots or lines in the skin (petechiae) • bone or joint pains • enlarged lymph nodes, liver, spleen, testicles • headaches with/without vomiting 6 Diagnosis of ALL Diagnosis of ALL...
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case1 - Human Genetics And Genetic Diseases Acute...

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