Bożena Sokołowska

Cytogenetic studies in patients with multiple myeloma

Fourteen patients diagnosed as having multiple myeloma were studied cytogenetically. In eight patients a sufficient number of metaphases was obtained and four of them showed abnormal karyotypes of bone marrow cells. Hypodiploidy was a consistent finding, as was the involvement of chromosome 9.

Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases

The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy. We present the cases of two patients in whom Gaucher disease was suspected because of the discovery of Gaucher cells in trephine biopsy, and subsequently confirmed via enzymatic and molecular investigations.

Assessment of plasma prothrombotic factors in patients with Buerger's disease.

The pathogenesis of Buerger’ disease (thrombangiitis obliterans; TAO) remains unknown, although a strong association with tobacco use has been established. Blood coagulation and fibrinolytic factors as well as selected clinical chemistry parameters have been evaluated in 37 patients with Buergers disease. Median levels of prothrombotic factors were higher in patients with TAO than in healthy control: annexin V (P < 0.0003), factor VII (P < 0.0001), factor VIII (P < 0.0000001), factor XI (P < 0.000003), homocysteine (P < 0.014) and fibrinogen (P = 0.00007). Patients with Buergers disease also showed higher median plasma levels of urokinase type plasminogen activator (uPA) (P < 0.000004), its receptor (uPAR) (P < 0.0008) and uPA complex with plasminogen activator inhibitor 1 (uPA–PAI-1) P < 0.000006). In contrast, plasma concentrations of apolipoprotein A and folic acid were lower in patients with TAO than in control (P < 0.004 and P < 0.0006; respectively). Higher plasminogen (P < 0.05) and cholesterol (P < 0.003), as well as lower folic acid (P < .0.05) levels were noted in the smokers group than in nonsmoking patients. We found higher plasminogen (P < 0.05), factor VII (P < 0.05), total lipids (P < 0.003), cholesterol (P < 0.05) and triglycerides (P < 0.002) levels in patients requiring surgical treatment for limb-threatening ischaemia than the patients treated only conservatively. These findings suggest an important role of haemostatic risk factors in the pathogenesis of Buergers disease, with special regard to hyperhomocysteinemia that might be aggravated by low serum folic acid level. In patients with aggressive clinical course, disturbances in serum lipids were more pronounced. Further studies are warranted to establish whether diet supplementation of folic acid as well as normalization of lipids balance might influence the clinical course of TAO.

Primary central nervous system lymphoma as a neurosurgical problem

Primary central nervous system lymphoma (PCNSL) comprises around 3-5% of primary central nervous system (CNS) tumours and around 1% of all non-Hodgkin lymphoma (NHL). Diffuse large B-cell lymphoma (DLBCL) is the most common histological type. High effectiveness of chemo- and radiotherapy for PCNSL regrettably does not eliminate significant risks of recurrence for CNS tumours. That results in higher interest in other treatment options, including surgical procedures. PCNSL remains in the scope of interest for many specialists and neurosurgeons seem to play a more important role.

Acquired hemophilia in the patient suffering from rheumatoid arthritis: case report.

Acquired hemophilia is a severe bleeding diathesis caused by autoantibodies against a coagulation factor VIII (FVIII inhibitor). Massive bleeding diathesis, often life threatening are observed in almost 90% of patients. In 50-60% of cases, inhibitor emerges spontaneously. However, there are some conditions like pregnancy, puerperium, autoimmune disorders or cancers that seem to induce acquired hemophilia. We report a case of a 49-year-old woman suffering from rheumatoid arthritis (RA) for several years, who was diagnosed with acquired hemophilia in September 2011. The patient had been treated by steroids and leflunomide during the last few months. At the time of diagnosis, diffuse bruising of the forearms and the trunk was observed. The patient was treated with recombinant activated factor VII, and the first-line immunosuppressive therapy was introduced (cyclophosphamide and prednisone). We observed the elimination of symptoms and the disappearance of diathesis. Significant reduction of the titer of inhibitor was achieved, but only partial remission was obtained. It lasted until the beginning of December 2011, when the titer of the inhibitor increased again and massive bleeding to the left lower limb occurred. It was necessary to administer recombinant factor VIIa together with the second-line immunosuppressive therapy based on the Budapest protocol. The rapid reduction of the diathesis and improvement of the patients general condition was achieved as previously. However, still there was no complete remission. After 2 weeks of treatment, the titer of inhibitor diminished, and factor VIII activity increased slightly. Because of RA, the patient was treated with methylprednisolone in maintenance doses during the next few weeks. Unfortunately, after over a month, the increase of inhibitor titer and the decrease of FVIII level were observed again. Some bruises appeared. It was necessary to increase doses of corticosteroids to therapeutic levels and add cyclophosphamide in low doses to prevent the appearance of more hemorrhagic diathesis. Partial remission was achieved a second time at the end of April 2012. The patient was given methylprednisolone with chloroquine as a maintenance treatment and the control of RA. The titer of the inhibitor increased again in June 2012, but there were no signs of diathesis. In August 2012, some bruises were detected, and we decided to add cyclophosphamide again instead of escalating the doses of methylprednisolone to prevent the occurrence of side-effects of corticosteroids. Cyclophosphamide was given with intervals only depending on activated partial thromboplastin time. No further diathesis was observed in spite of the lack of remission. We were forced to withdrawn cyclophosphamide completely in October 2012 because of signs of hematuria. Fortunately, right nephrolithiasis and urinary tract infection were the cause of that condition. These symptoms vanished after standard supportive treatment. Maintenance doses of corticosteroids and chloroquine were continued as the main treatment. The patients condition was good, but the titer of inhibitor increased over the value that had been detected at the time of diagnosis, and some bruises appeared again at the end of January 2013. The decision to use rituximab as the next-line therapy was made. This anti-CD20 monoclonal antibody is primarily used in the management of lymphomas. However, it has been successfully applied in the management of various autoimmune conditions. The usual treatment regime involves four separate intravenous infusions of 375 mg/m each, administered at weekly intervals. At the time of admission to the hospital in the second half of February 2013, the titer of inhibitor was dangerously high, almost three times more than the initial level. Fortunately, only a few bruises were observed, and no bypassing agents were needed. The patient was given the whole-planned therapy. Concomitant continuation of maintenance doses of corticosteroids was necessary to enforce the effect of eradication of inhibitor because of high levels of its titer during rituximab administration. It prevented the patient from massive diathesis that might occur. The laboratory tests were improving during the next subsequent weeks after the last dose of rituximab. Over a month later, a significant decrease of the titer of inhibitor and an increase of factor VIII activity was observed. Probably, the laboratory tests will be improving during the next few weeks. The patient is in outpatient care now. She is treated with maintenance doses of corticosteroids and chloroquine as the main treatment of RA. We will try to withdraw corticosteroids unless it is not feasible to achieve complete remission. We will have to introduce another kind of immunosuppressive agent in case of recurrence.

Wtórne nowotwory u chorych z nadpłytkowością samoistną leczonych w Klinice Hematoonkologii i Transplantacji Szpiku UM w Lublinie

STRESZCZENIE Nadplytkowośc samoistna (ET; essential thrombocythemia) nalezy do przewleklych chorob mieloproliferacyjnych i ma na ogol malo agresywny przebieg, jednak czas przezycia chorych jest krotszy w porownaniu z ogolną populacją. Do niedawna za glowne przyczyny skrocenia czasu zycia chorych uznawano zaawansowany wiek i przebyte epizody zakrzepowe. Obecnie coraz wiecej uwagi zwraca sie na inny powod, jakim jest rozwoj u tych chorych wtornych nowotworow niehematologicznych.

Rola PF4 (chemokiny CXCL4) w powstawaniu skrzepu

STRESZCZENIE Czynnik plytkowy 4 (PF4) uwalniany jest z ziarnistości α krwinek plytkowych podczas ich aktywacji. Uczestniczy w powstawaniu skrzepu. Prawidlowe stezenie PF4 warunkuje nie tylko efektywnośc procesow krzepniecia krwi, ale rowniez skutecznośc terapeutycznych dawek heparyny. Praca niniejsza opiera sie w duzej mierze na pracach doświadczalnych jednej z wspolautorek.

Advances in hematology – research that revolutionized patient care

Abstract In the last decades, substantial strides have been made in the diagnosis, treatment, and prevention of blood diseases. The new drugs to be used in combination with cytostatic therapy have been developed, based on increased understanding of the biology of neoplasia. The diagnosis of several diseases is based exclusively on cytogenetic and molecular analysis which has become a part of routine diagnostic management. Moreover, molecular definition has allowed the introduction of therapy targeted at molecular change characteristic for a given disease. The introduction of novel agents for the treatment of hematological disorders has resulted in a great improvement in response rate and median survival. The aim of this study is to show advances and possible future directions in the treatment of chosen hematological malignancies during the recent decades.

Nabyta choroba von Willebranda (AVWS) przyczyną skazy krwotocznej u chorej z wywiadem niedoczynności tarczycy i niewydolnością nerek

B. Baran *, E. Odnoczko , E. Stefanska-Windyga , K. Bykowska , J. Oldenburg , J. Windyga 1 Zaklad Hemostazy i Chorob Metabolicznych, Instytut Hematologii i Transfuzjologii, Warszawa, Polska Poradnia Zaburzen Hemostazy, Instytut Hematologii i Transfuzjologii, Warszawa, Polska 3 Instytut Hematologii Eksperymentalnej i Transfuzjologii, Bonn, Niemcy *Autor prezentujący i do korespondencji. Adres email: bbaran@ihit.waw.pl