Polysomy 8 Syndrome: A Distinct Clinical Entity Comprising of Myelomonocytic/Monocytic Lineage Involvement in Acute Leukemia

Purpose: Cytogenetic abnormalities have been proven to be among the most valuable prognostic indicators in leukemia, allowing the stratification of patients in risk groups. We describe a patient diagnosed as AML-M5, with myeloid sarcoma and tetrasomy 8 as the sole chromosomal abnormality. We confirm that the presence of polysomy 8 in myeloid lineage malignancies is associated with a distinct clinical entity comprising of myelornonocytic/monocytic lineage involvement, poor prognosis and high incidence of myeloid sarcoma. In aim to obtain a detailed description of this clinical entity, literature of polysomy 8 cases has been reviewed

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

WOS: 000251645500004PubMed ID: 178524548p11 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 I (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. Disease phenotype associated with this translocation has some typical features such as poor prognosis, and transformation to mainly acute leukemia and non-Hodgkin lymphoma; commonly with a T-cell phenotype in which obtaining and maintenance of remission is difficult by conventional chemotherapy. We hereby present a case diagnosed as atypical chronic myeloproliferative disease with consistent t(8;13)(p12;q12) and transformed rapidly to pre-B-cell acute lymphoblastic leukemia which is a rare clinical presentation

Mast cell leukemia associated with undefined morphology and chronic basophilic leukemia

© 2014 Cehreli et al.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). Evolution of SM occurring as a second neoplasia concurrently with relapse of de novo CBL was demonstrated by mast cells (MCs) infiltration in the bone marrow (BM) biopsy and smear and increase in tryptase level. Transformation to MCL with simultaneous occurrancof accelerated phase of CBL were documented by the appearance of MCs in both BM and peripheral blood (PB) smears, antigen expressions detected by flow cytometry and spesific stains. Sequence analysis of c-kit gene revealec-kit exon 11 K550N mutation. Undefined associations of MCL with different mast cell morphology, increase in IL-6 level and accelerated phase of de novo CBL was described. Conclusion: Elevations in CRP and IL-6 levels occurring with increases in basophil counts to high levels revealed that febrile episodes with abdominal pain seen in our patient were induced by increase in IL-6 levels released from neoplastic basophils. Neoplastic basophils with diffuse and coarse basophilic granules possibly mimic neutrophils with toxic granules and cause wrong characterization of neoplastic basophils as neutrophils by the automated blood cell counters and misleaded physicians

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. At a median follow-up of 24 months, 22 patients (19.5%) transformed to acute myelogenous leukaemia (AML). Overall survival (OS) of patients differed significantly between the FAB and WHO subgroups (p50.0001). In WHO classification, significant differences were observed in both OS and leukaemia free survival (LFS) between patients with RA/ RARS and refractory cytopenia with multi-lineage dysplasia/refractory cytopenia with multi-lineage dysplasia and ringed sideroblasts (RCMD/RS-RCMD) (p = 0.0001). High-risk according to IPSS score and blood transfusion need were significantly predictive for a shorter survival and higher risk of transformation. Hemoglobin <10 g/dl, neutrophil count <0.5 x 10(9)/L, platelet count <50 x 10(9)/L had an unfavourable prognostic impact on survival in multi-variate analysis. Our conclusions support the previous findings on the value of WHO classification for prediction of prognosis in MDS

The efficacy of immunotherapy and chemoimmunotherapy in patients with advanced rare tumors: A Turkish oncology group (TOG) study

Abstract Introduction The advances in immune checkpoint inhibitors (ICIs) were relatively slow in rare tumors. Therefore, we conducted a multi‐center study evaluating the efficacy of ICI monotherapy and the combination of ICIs with chemotherapy (CT) in patients with advanced rare tumors. Methods In this retrospective cohort study, we included 93 patients treated with ICIs for NCI‐defined rare tumors from the 12 cancer centers in Turkey. The primary endpoints were the overall response (ORR) and disease control rate (DCR). Results The cohort's median age was 56, and 53.8% of the patients were male. The most frequent diagnosis was sarcoma (29%), and 81.7% of the patients were previously treated with at least one line of systemic therapy in the advanced stage. The ORR and DCR were 36.8% and 63.2%, respectively. The germ cell tumors had the lowest ORR (0%), while the Merkel cell carcinoma had the highest ORR to ICIs (57.1%). Patients treated with ICI + ICI or ICI plus chemotherapy combinations had higher ORR (55.2% vs. 27.6%, p = 0.012) and DCR (82.8% vs. 53.4%, p = 0.008). The median OS was 13.47 (95% CI: 7.79–19.15) months, and the six and 12‐month survival rates were 71% and 52%. The median duration of response was 16.59 months, and the 12‐month progression‐free survival rate was 66% in responders. The median time‐to‐treatment failure was 5.06 months (95% CI: 3.42–6.71). Three patients had high‐grade irAEs with ICIs (grade 3 colitis, grade 3 gastritis, and grade 3 encephalitis in one patient each). Conclusion We observed over 30% ORR and a 13‐month median OS in patients with rare cancers treated with ICI monotherapy or ICI plus CT combinations. The response rates to ICIs or ICIs plus CT significantly varied across different tumor types. Responding patients had over 2 years of survival, highlighting a need for further trials with ICIs for patients with rare tumors

Rationale and Design of the Turkish Sleep Apnea Database - TURKAPNE: A National, Multicenter, Observational, Prospective Cohort Study

WOS: 000439590300008PubMed ID: 30083405OBJECTIVES: The primary aim of The Turkish Sleep Apnea Database (TURKAPNE) study is to generate a cross-sectional nationwide database for defining the clinical and polysomnographic characteristics of the patients with obstructive sleep apnea (OSA) in Turkey. MATERIALS AND METHODS: In this ongoing project, all consecutive adults with suspected OSA are recruited from the sleep centers of the university and research hospitals in Turkey. Information on anthropometric data, educational status, driving license, smoking habits, alcohol use, comorbidities, drug use, questionnaires, polysomnographic, and/or cardiorespiratory polygraphic findings are recorded in a systematized Web-based report form. Blood glucose, lipids and other biochemical markers, lung function, and echocardiography measurements are optionally included. Follow-up data regarding treatment modality and compliance is assessed. Cross-sectional and longitudinal associations between OSA phenotypes and metabolic, pulmonary, and cardiovascular comorbidities as well as traffic accidents, and the impact of treatment will be further explored. We target a total sample of 10,000 participants. RESULTS: The study was registered with ClinicalTrials.gov (NCT02784977) in May 2016 and the first patient was recruited in October 2017. A total of 1911 participants from 19 centers have been enrolled in the study by May 31, 2018. CONCLUSION: The TURKAPNE study will contribute to a better understanding of the health-related burden of OSA phenotypes and its association with the comorbidities and adverse outcomes, including traffic accidents in Turkey. The results may also contribute to a more personalized approach and better management of varying OSA phenotypes with concomitant disorders.Turkish Thoracic SocietyThe foundation and infrastructure of the database was supported by grants from the Turkish Thoracic Society with no influence on the design of the study, the analysis of the data, the data collection, drafting of the manuscript, or the decision to publish