A 54 year male with massive splenomegaly, early fatigue, malaise, low-grade fever, gout, increased susceptibility to infections, anemia, with TLC-1,25,000, and thrombocytopenia with easy bruising. The diagnosis is associated with following chromosomal translocation
(A) t9,22 # CML: all CML have a t(9;22), at least at the molecular level; but not all t(9;22) are found in CML.# Philadelphia chromosome or Philadelphia translocation is a specific chromosomal abnormality that is associated with chronic myelogenous leukemia (CML). It is the result of a reciprocal translocation between chromosome 9 and 22, and is specifically designated t(9;22)(q34;q11). The presence of this translocation is a highly sensitive test for CML, since 95% of people with CML have this abnormality (the remainder have either a cryptic translocation that is invisible on G-barided chromosome preparations, or a variant translocation involving another chromosome or chromosomes as well as the long arm of chromosomes 9 and 22).> clinical onset of the chronic phase is generally insidious. Accordingly, some patients are diagnosed while still asymptomatic, during health screening tests; other patients present with fatigue, malaise, and weight loss or have symptoms resulting from splenic enlargement, such as early satiety and left upper quadrant pain or mass. Less common are features related to granulocyte or platelet dysfunction, such as infections, thrombosis, or bleeding. Occasionally, patients present with leukostatic manifestations due to severe leukocytosis or thrombosis such as vasoocclusive disease, cerebrovascular accidents, myocardial infarction, venous thrombosis, priapism, visual disturbances, and pulmonary insufficiency. Elevated white blood cell counts, with various degrees of immaturity of the granulocytic series, are present at diag nosis. Usually * 5% circulating blasts and * 10% blasts and promyelocytesare noted. Cycling of the counts may be observed in patients followed without treatment. Platelet counts are almost always elevated at diagnosis, and a mild degree of normochromic normocytic anemia is present. Leukocyte alkaline phosphatase is characteristically low in CML cells. Serum levels of vitamin B12 and vitamin B12-binding proteins are generally elevate.
t9,22
115,17
5q delitic
None of the above
Miscellaneous