<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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.</p></abstract>

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.

Atypical case of B-cell Chronic Lymphocytic Leukemia presenting with extreme hyperleukocytosis / Hiperleucocitoză extremă într-un caz atipic de leucemie limfatică cronică cu celulă B

University of Medicine and Pharmacy Tîrgu Mureș, Pathophysiology Department

University of Medicine and Pharmacy Tîrgu Mureș Genetic Department

University of Medicine and Pharmacy Tirgu Mures, Hematology Department

Clinical Hematology and Bone Marrow Transplantation Clinic, Tirgu Mures

County Emergency Clinical Hospital Tg Mures, Clinical Laboratory

Revista Romana de Medicina de Laborator

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Very few cases of chronic lymphocytic leukemia (CLL) presenting with extreme hyperleukocytosis are reported in the literature. We describe the case of a 66...

Atypical case of B-cell Chronic Lymphocytic Leukemia presenting with extreme hyperleukocytosis / Hiperleucocitoză extremă într-un caz atipic de leucemie limfatică cronică cu celulă B

Pubblicato online: 30 dic 2014

Pagine: 507 - 513

Ricevuto: 26 ago 2014

Accettato: 18 nov 2015

DOI: https://doi.org/10.2478/rrlm-2014-0043

Parole chiave
CLL, extreme hyperleukocytosis, NOTCH1 mutation

© by Anca Bacârea

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Atypical case of B-cell Chronic Lymphocytic Leukemia presenting with extreme hyperleukocytosis / Hiperleucocitoză extremă într-un caz atipic de leucemie limfatică cronică cu celulă B

Pubblicato online: 30 dic 2014

Pagine: 507 - 513

Ricevuto: 26 ago 2014

Accettato: 18 nov 2015

DOI: https://doi.org/10.2478/rrlm-2014-0043

Parole chiaveCLL, extreme hyperleukocytosis, NOTCH1 mutation

© by Anca Bacârea

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
CLL, extreme hyperleukocytosis, NOTCH1 mutation