Mast cell leukemia associated with undefined morphology and chronic basophilic leukemia.

Background: Mast cell leukemia (MCL) is rare type of neoplasia with an incidence of 1% in a large series of 342 adult patients with systemic mastocytosis (SM). Chronic basophilic leukemia (CBL) is an extremely rare type of leukemia with appearance of 7 cases in the literature.

Case Presentation: A 73 year-old female patient who presented with weaknes, had a prolonged duration of hematologic remission after treatment of her CBL by hydroxyurea (HU).

Synthesis of novel methacrylate based adsorbents and their sorptive properties towards p-nitrophenol from aqueous solutions.

The polymeric adsorbents were synthesized from 2-dimethylaminoethyl methacrylate (DMA) and [2-(methacryloyloxy)ethyl]dimethylhexadecylammonium bromide (DMAC(16)) monomers in the presence of ethylene glycol dimethacrylate (EDMA) cross-linking monomer using suspension polymerization technique and their adsorption efficiencies in the removal of p-nitrophenol from aqueous solutions were investigated. DMAC(16) monomer was prepared by means of modification of DMA monomer with 1-bromohexadecane. Adsorption experiments were carried out in a batch system and the experimental parameters were evaluated with respect to pH, agitation time, temperature and initial p-nitrophenol concentration.

Isolated myelosarcoma development in an adolescent chronic myeloid leukemia patient with t(9;22)(q34;q11.2), +8, +14, +21, and der(1)(p36).

Additional chromosomal abnormalities are found in 5-20% of patients during chronic phase of chronic myeloid leukemia and in 60-80% preceding or accompanying blast crisis. These abnormalities are important in disease progression and, because they may occur before hematological and clinical symptoms, can be taken as a prognostic indicator. An adolescent with chronic myeloid leukemia initially presented with extreme thrombocytosis, increased megakaryopoiesis with dysmorphic features, and focal myelofibrosis in bone marrow examinations and then developed isolated myelosarcoma 1 year after onset, with t(9;22)(q34;q11.

Rapid transformation of atypical myeloproliferative disorder with consistent t(8;13) to B-cell acute lymphoblastic leukemia: a case report.

8p11 myeloproliferative syndrome (EMS; also known as the stem cell leukemia syndrome-SCLL) is a rare atypical myeloproliferative disorder associated with chromosomal abnormalities involving the 8p11 chromosomal band. Translocations associated with this syndrome result in the fusion of the fibroblast growth factor receptor 1 (FGFR 1) gene with various partners, resulting in ligand independent FGFR activity. The most commonly observed translocation of this syndrome is t(8;13), which results in the expression of a chimeric ZNF198-FGFR1 tyrosine kinase.

The clinical, haematological and morphological profile of patients with myelodysplastic syndromes: a single institution experience from Turkey.

In a retrospective analysis of 113 patients with primary myelodysplastic syndromes (MDS) diagnosed according to French-American-British (FAB) classification, we evaluated the prognostic impact of FAB and World Health Organisation (WHO) classifications, International Prognostic Scoring System (IPSS), and other clinical and laboratory variables. The median age was 69. IPSS could be applied to 75 patients classified according to the FAB criteria and to 50 patients reclassified according to the WHO criteria.

Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients.

Objective: To evaluate the frequency of 5 mutations and their relationship with the Tel Hashomer criteria in 85 FMF patients.

Methods: We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF. By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005.

Poor clinical course in a child with myelodysplastic syndrome and del(13)(q14q22).

Myelodysplastic syndromes (MDS) are rare in children, representing 3% or less of all hematopoietic malignancies. Cytogenetic abnormalities, such as -7/7q-, +8, and +21 have been reported in 55-80% of children with MDS. Cytogenetic studies have an important impact on diagnosis, treatment selection, and monitoring therapeutic protocols when combined with morphologic data.

Microsatellite instability is not a common feature in medullary breast cancer.

Microsatellite instability (MSI) is a form of genomic instability associated with defective DNA mismatch repair in tumors. MSI is found in 85-90% of hereditary nonpolyposis colorectal cancer cases; however, its occurrence in breast carcinogenesis still remains to be clarified. In addition, data are limited on the incidence of MSI in the medullary subtype.

Refractory Thrombocytopenia with Multilineage Dysplasia: A Rare Type of Myelodysplastic Syndrome.

Thrombocytopenia may be the presenting cytopenia of myelodysplastic syndrome (MDS) and is named as refractory thrombocytopenia (RT) and categorized in the refractory cytopenia with multilineage dysplasia (RCMD) group according to the recent World Health Organization (WHO) classification of the acute leukemias and MDS. Abnormal cytogenetics can be found in 60% to 80% of patients with MDS. Most common cytogenetic abnormalities include monosomy 5, 5q-, monosomy 7, trisomy 8, deletion 20q and loss of X or Y chromosome.

Microsatellite instability in early-onset breast cancer.

Breast cancer in a young person is considered a rare and very aggressive disease. The theories addressing the underlying genetic mechanisms of this disease are controversial. Therefore, additional genetic concepts playing a possible role in its pathogenesis and prognosis must be investigated.