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Öğe Aggressive clinicopathological course of myeloma with t(3;16) (q21;q22) cytogenetic abnormality(Galenos Yayincilik, 2019) Bozkurt, Süreyya; Okay, Mufide; Haznedaroğlu, İbrahimMultiple myeloma (MM) is a heterogeneous disease and patients present with a wide variety of cytogenetic anomalies reflecting the nature of the disease [1]. The aim of this letter is to report a rare karyotypic abnormality with an aggressive clinical course of MM. A 56-year-old male patient was admitted to the neurosurgery clinic with dorsal shoulder pain and inability to walk in April 2011. He underwent thoracic and lumbar spinal magnetic resonance imaging. Laminectomy was performed on the patient upon detecting masses at the levels of the first and seventh thoracic vertebrae. The patient was referred to our center when he was determined to have “lymphoma” based on the first evaluation 63 of his biopsy material. The specimen was then reevaluated in our center. A high-grade hematopoietic neoplasia was detected. Immunophenotypic findings suggested neoplasia with plasma cell origin. Immunohistochemically, neoplastic cells were positive for CD38, MUM-1, and kappa and negative for lambda. The karyotype of the patient was identified as 44,X,-Y,del(1) (p13p35),+der(1),t(3;16)(q21;q22),-4,-13,-14,+mar[8]/46,XY[42] (Figure 1).Öğe First report of t(1;15)(q21;q11.2) and t(1;21)(q21;q11.2) anomalies in Burkitt Lymphoma(KUWAIT MEDICAL ASSOC, 2021) Bozkurt, Süreyya; Okay, Mufide; Haznedaroğlu, Celalettin İbrahimBurkitt lymphoma (BL) is a highly aggressive B cell neoplasm characterized by t(8;14)(q24;q32) which involves the MYC gene. Sometimes, patients have additional cytogenetic anomalies beside t(8;14)(q24;q32) and these anomalies usually lead to more aggressive phenotype. The aim of this paper is to report two novel karyotypic abnormalities which give rise to tetrasomy 1q with an aggressive clinical course of BL. We present a 41-year-old woman with BL. In this patient, the t(1;15)(q21;q11) and t(1;21)(q21;q11.2) were found in the complex karyotype with the translocation of t(8;14)(q24;q32), which is a characteristic of BL. The t(1;15)(q21;q11.2) and t(1;21)(q21;q11.2) anomalies were reported for the first time according to the databases that we have investigated. In our case, the result of t(1;15)(q21;q11.2) and t(1;21)(q21;q11.2) was tetrasomy of chromosomes of 1q. Structural anomalies of chromosomes 1q could be seen in BL patients as additional cytogenetic anomalies and gain of chromosome of 1q usually associated with disease recurrence and poor prognosis. In our case, the patient died approximately 8 months after diagnosis, so her prognosis was poor, which was consistent with the literature. The candidate genes on chromosomes 1q which could be involved in tumorigenesis remain to be identified.Öğe Hematological neoplastic disorders with chromosome 3 abnormalities(Carbone Editore, 2019) Bozkurt, Süreyya; Okay, Mufide; Sağlam Yarımcan, Filiz; Haznedaroğlu, Celalettin İbrahimIntroduction: Conventional karyotyping in the patients with haematological malignancies is very important. Because chromosomal abnormalities which detected in these patients have diagnostic and prognostic value. Aim: The aim of this study was to assess the patients with hematologic malignancy having chromosome 3 abnormalities which are rare. Method: Conventional cytogenetic analysis were done from bone marrow samples of patients. Samples were treated with trypsin and stained with Giemsa (GTG banding). 20 metaphases of each patient were examined and karyotypes were formed. Results: Among the 6865 patients analysed via conventional cytogenetic methods, 701 (10.2%) were found as pathological and 39 (5.5%) of those were found to have chromosome 3 abnormalities. The most common neoplastic diseases observed in patients which have chromosomes 3 abnormalities were Multiple Myeloma and Acute Myeloid Leukaemia (25.6% each), Myelodysplastic Syndrome (20.5%), Acute Lymphoblastic Leukaemia (12.8%), Lymphoma (12.8%) and Chronic Lymphoblastic Leukaemia (2.6%). Numerical chromosomes 3 abnormalities were 53.8% and structural chromosomal abnormalities were 43.5%. Complex karyotypes were 87.1% of all chromosome 3 abnormalities in our group. Conclusion: Chromosome 3 anomalies are seen less frequently in hematologic malignancies. Patients have both numerical and structural chromosome 3 anomalies and these anomalies are mostly found in complex karyotype. With 76.6% mortality rate, in our group chromosome 3 abnormalities were found to relate with unfavorable prognosis.Öğe The novel translocation of t (1;21) in multiple myeloma with poor prognosis(DergiPark, 2019) Okay, Mufide; Bozkurt, Süreyya; Özgeyik, Mehmet; Haznedaroğlu, İbrahim CelalettinObjective: Multiple myeloma (MM) is characterized as the neoplastic proliferation of plasma cells producing a monoclonal paraprotein. The aim of this paper is to report complex karyotype that leads to a fatal clinical course in a patient with MM. Case: A 48-year-old male patient was diagnosed as MM free lambda. The karyotype of the patient was 46, XY, t(1;21) (p11;p11), del(3) (q25;q29), del(6) (q24;q26), t(11;14) (q13;q32), del(13) (q14;q21) in cytogenetic evaluation. Vincristine, doxorubicin and dexamethasone were started. The creatinine levels increased after the second course of chemotherapy, the chemotherapy protocol was switched to bortezomib and dexamethasone. Patient was admitted to the emergency department with pneumonia after the second chemotherapy cycle. Despite using broad spectrum antibiotics and oxygen support, he died after the development of sepsis syndrome. Conclusion: The anomaly of t (1;21) (p11;p11), that we detected in this case was detected in a case with MM for the first time and this anomaly has not been detected between these breaking points in any malignancies before. Although the prognostic impact of this unique anomaly may be unclear, further studies are needed to evaluate the effect of cytogenetic anomalies on prognosis of multiple myeloma.
