ABSTRACT
<p><b>OBJECTIVE</b>To improve the recognition of Fechtner syndrome.</p><p><b>METHODS</b>The clinical and laboratory data and family survey of a patient with Fechtner's syndrom was reported.</p><p><b>RESULTS AND CONCLUSION</b>Giant platelets, thrombocytopenia and characteristic granulocyte inclusion bodies (Döhle-like bodies) were found in both peripheral blood and bone marrow smears of the patient. Clinically the patient had renal damage, nervous deafness, and vitreous lesions. There was a family genetic tendency on family survey the diagnosis of Fechtner syndrome is established.</p>
Subject(s)
Humans , Male , Middle Aged , Hearing Loss, Sensorineural , Genetics , Molecular Motor Proteins , Genetics , Mutation , Myosin Heavy Chains , Genetics , Nephritis, Hereditary , Genetics , Thrombocytopenia , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate clinical and laboratory characteristics of acute myeloid leukemia (AML) patients with t(7;11)(p15;p15).</p><p><b>METHODS</b>Eleven patients with t(7;11)(p15;p15) were retrospectively reviewed involved in cell morphology, immunophenotype, cytogenetics as well as clinical features and prognosis.</p><p><b>RESULTS</b>Eight patients out of the eleven were female, six patients were AML-M2a, two M4, two M5, and one M6. All the 11 cases expressed CD33, 10 expressed CD117 and CD13, HLA-DR and CD34 was expressed in 7 and 6 patients, respectively. Karyotypes of all the patients were t(7;11) (p115;p15), additional trisomy 8 were found in only one patient. FLT3-ITD was positive in one of nine patients who were analysed for FLT3-ITD and FLT3-TKD. Two patients were alive, and one lost to followed up, while the rest of eight were dead.</p><p><b>CONCLUSION</b>The t(7;11) (p15;p15) abnormalities is one of rare chromosomal translocation in patients with AML. AML patients with t(7;11) (p15;p15) have clinical features of anemia, thrombocytopenia, higher white blood cell, and poor prognosis.</p>