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Bacarea A.,Victor Babes University of Medicine and Pharmacy Timisoara | Banescu C.,Victor Babes University of Medicine and Pharmacy Timisoara | Macarie I.,University of Medicine and Pharmacy of Targu Mures | Kopeczi J.B.,Clinical Hematology and Bone Marrow Transplantation Clinic | Dorcioman B.,Clinical Laboratory
Revista Romana de Medicina de Laborator | Year: 2014

Very few cases of chronic lymphocytic leukemia (CLL) presenting with extreme hyperleukocytosis are reported in the literature. We describe the case of a 66 years old woman, with newly diagnosed CLL presenting with extreme hyperleukocytosis of 774.2 x 109/liter, Rai stage III and Binet stage C. The patient has no comorbidities and the CIRS score (cumulative illness rating scale) is well below 6, with normal creatinine clearance. Some other interesting aspects related with this case are the atypical immunophenotype, the expression of Cyclin D1, and the B hepatitis viral infection, which made her diagnosis and treatment challenging. The patient was tested for NOTCH1 mutation and it was positive. There is important evidence that NOTCH1 mutations are associated with rapidly progressive disease and resistance to treatment. The distinction of CLL from mantle cell lymphoma (MCL) is not always easy because some MCLs may mimic CLL clinically, histologically, and/or phenotypically. The hepatitis B prophylaxis for viral reactivation was not available an in the end the patient was treated only with fludarabine and cyclophosphamide, without rituximab. CD200 should be introduced in the routine panel for flow cytometry to distinguish CLL from mantle cell lymphoma and NOTCH1 mutation is associated with poor prognosis and should be evaluated at diagnosis. CLL with extreme hyperleukocytosis presentation is very rare and sometimes an atypical CLL may represent a diagnostic pitfall. © 2014, University of Medicine and Pharmacy Targu Mures. All rights reserved. Source


Kopeczi J.B.,Clinical Hematology and Bone Marrow Transplantation Clinic | Benedek E.,Clinical Hematology and Bone Marrow Transplantation Clinic | Kakucs E.,Clinical Hematology and Bone Marrow Transplantation Clinic | Tunyogi A.,Clinical Hematology and Bone Marrow Transplantation Clinic | And 3 more authors.
Revista Romana de Medicina de Laborator | Year: 2014

Blastic plasmacytoid dendritic cell neoplasm (BPDCN), recently classified among the acute myeloid leukemia and related precursor neoplasms, is a rare hematological malignancy with highly aggressive clinical course. We report a case of a 55 year-old female patient who presented spontaneous rupture of the spleen. The histo-pathological diagnosis without immunohistochemistry was splenic marginal zone non-Hodgkin lymphoma (NHL). The patient received 4 courses of polychemotherapy Due to the unfavorable evolution the spleen was histopatho-logically reexamined and immunohistochemistry was performed in another laboratory. The diagnosis of NHL was excluded. Undifferentiated malignant cell proliferation, possible myeloid was suspected. Due to the discrepancy between diagnoses, a third immunohistological examination was performed in a third laboratory. NHL was excluded and myeloid, NK-cell or plasmacytoid dendritic cell leukemia was suspected. The patient was admitted to our clinic after 8 months from the initial diagnosis. Immunophenotyping by fowcytometry from the bone marrow showed 23% blasts positive for CD4, CD56, CD123, HLA-DR, CD38, CD11b, CD2, and negative for lineage specific markers of B-, T-lymphoid, NK- or myelomonocytic cells. The final diagnosis was BPDCN in leukemic phase. Due to the diversity of the clinical presentation, morphology and immunophenotype of BPDCN the diagnosis of this rare malignancy remains challenging. Immunophenotyping by fowcytometry is superior to immunohistochemistry because of the availability of a larger panel of antibodies and the possibility to identify the intensity of antigen expression. The atypical forms of BPDCN should be recognized early in order to manage properly the patients with this aggressive disease. Source

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