Onset of chronic myeloid leukemia with complex karyotype in a pregnant patient: case report and revision of literature

Sgherza, Nicola; Abruzzese, Elisabetta; Perla, Gianni; Minervini, Maria Marta; Chiello, Vincenzo; Sciannamé, Natale; Cascavilla, Nicola

doi:10.2147/tcrm.s137103

Cited by 5 publications

(6 citation statements)

References 23 publications

(26 reference statements)

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“…This patient was never compliant with the medicine. To the best of our knowledge, few case reports have been published internationally reporting chronic myeloid leukemia with complex karyotype and molecular remission [ 25 ]. One of our patients diagnosed as aplastic anemia on bone marrow biopsy had complex karyotype and died due to septic shock early during the disease course.…”

Section: Discussionmentioning

confidence: 99%

Complex Karyotype in Hematological Diseases: A 6-Year Single Centre Study from Pakistan

Waheed

Hassan

Naz

et al. 2018

Journal of Oncology

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Background Most of the hematological disorders are heterogenous with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in these patients. Though rarer, complex karyotype has been associated with worst prognosis. Materials and Methods A total of 1185 bone marrow or peripheral blood cytogenetics samples were taken with different hematological diseases. They included both benign and malignant disease entities. In each case, cells were cultured and conventional cytogenetic analysis was performed. Results Among 1185 subjects, 41 (3.4%) patients possessed complex cytogenetic abnormalities. Out of these 41, 33 (80%) were males. The mean age was 37 years (median age 39 years). Myelodysplastic syndromes had the most numbers of complex karyotypes (8%), followed by acute myeloid leukemia (7%) and acute lymphoblastic leukemia (4%). Also we found few patients with acute promyelocytic leukemia, aplastic anemia , chronic myeloid leukemia, and diffuse large B cell Lymphoma possessing complex karyotype. Frequencies of different cytogenetic abnormalities were assessed with respect to disease as well as independently. Trisomy 21 was the most common chromosomal abnormality found in 28% of patients. Conclusion Complex karyotype was most frequently associated with myelodysplastic syndromes and acute myeloid leukemia. Trisomy 21 and deletion 5q were the commonest cytogenetic abnormalities found. We also assessed complex karyotype in benign diseases and detected one patient of aplastic anemia with complex karyotype. This is the first study highlighting the presence of complex karyotypes in hematological disorders in our region.

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Section: Discussionmentioning

confidence: 99%

Complex Karyotype in Hematological Diseases: A 6-Year Single Centre Study from Pakistan

Waheed

Hassan

Naz

et al. 2018

Journal of Oncology

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“…In patients with Ph− cells, ACA found could be a reciprocal translocation t (6; 9) (p21; q34.1), a chromosomal marker (+ mar), a trisomy 8 and others. On the other hand, the absence of the Ph chromosome and the presence of − 7 (monosomy 7) contribute to the evolution towards a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) [12,19].…”

Section: Cytogenetics Of Chronic Myeloid Leukemiamentioning

confidence: 99%

Chronic myeloid leukemia: cytogenetics and molecular biology’s part in the comprehension and management of the pathology and treatment evolution

Benchikh

Bousfiha

Hamouchi

et al. 2022

Egypt J Med Hum Genet

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Background Chronic myelogenous leukemia (CML) is a type of blood cancer that affects hematopoietic stem cells and is often characterized by the presence of the Philadelphia chromosome. The Philadelphia chromosome encodes for a protein with high tyrosine kinase activity which acts as a tumorigenic factor. Main body This review article reports an update on the pathophysiology of CML and highlights the role of cytogenetic and molecular biology in screening, diagnosis, therapeutic monitoring as well as evaluating patients’ response to treatment. Additionally, these genetic tests allow identifying additional chromosomal abnormalities (ACA) and BCR-ABL tyrosine kinase domain mutations in intolerant or resistant patients. Thus, therapeutic advances have enabled this pathology to become manageable and almost curable in its clinical course. The scientific literature search used in the synthesis of this paper was carried out in the PubMed database, and the figures were generated using online software named BioRender. Conclusion The role of cytogenetic and molecular biology is crucial for the diagnosis and medical monitoring of patients. In-depth knowledge of molecular mechanisms of the BCR-ABL kinase facilitated the development of new targeted therapies that have improved the vital prognosis in patients. However, the emergence of ACA and new mutations resistant to tyrosine kinase inhibitors constitutes a real challenge in the quest for adequate therapy.

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“…Most of the patients in blastic phase have a myeloid phenotype while 25% show a pre B lymphoblastic phenotype [1]. It has been reported that around 10% to 12% of patients with CML in chronic phase have ACAs at the time of diagnosis [9].…”

Section: Introductionmentioning

confidence: 99%

Chromosomal Aberrations in Chronic Myeloid Leukemia: Response to Conventional TKIs and Risk of Blastic Transformation

Maqsood

Ali

Hameed³

et al. 2021

Asian Pac J Cancer Care

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Background and Purpose: Chronic Myeloid Leukemia (CML) is a common hematological malignancy. The characteristic molecular abnormality is the presence of Philadelphia chromosome or BCR-ABL fusion gene which is the result of 9:22 translocation. Tyrosine kinase inhibitors (TKIs) form the main stay of treatment in CML with excellent responses. The purpose of this study was to determine the impact of additional chromosomal abnormalities on outcomes in CML.Methods: This is a retrospective chart review of all patients who were diagnosed with CML in chronic phase (CP) with additional chromosomal abnormalities (ACAs) over a period of 5 years from 2010 to 2015 at Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan. Results: A total of 283 patients were diagnosed with CML from January 2010 to January 2015. 31 patients out of these were found to have additional chromosomal abnormalities at the time of diagnosis in addition to BCR-ABL fusion gene or Philadelphia chromosome detection. Out of these 31 patients, 23 (74.2%) were males whereas 8 (25.8%) were females. 13 (41.9%) were in the age group of 31 to 50 years whereas the other two groups that is 18 to 30 years and 51 to 70 years had 9 patients each. After approval from the government which usually takes a standard 2-3 weeks’ time, these patients were started on tyrosine kinase inhibitors which was Imatinib in 30 (96.8%) and Nilotinib in 1 (3.2%) patient. Conventional cytogenetic analysis performed for each patient at the time of diagnosis revealed that 11 (35.5%) of patients had variant Philadelphia chromosome followed by 7 patients (22.6%) with trisomy 8. 5 patients (16.1%) had multiple chromosomal abnormalities including trisomy 8, deletion 1 and isochrome 17q. 2 patents each had isochrome 17q, inversion 3 and deletion 9 abnormalities. 1 patient had deletion 7 whereas 1 had variant Philadelphia chromosome with other chromosomal abnormalities. Conclusion: It was evident that frequently occurring ACAs In our CML population were Variant Philadelphia chromosome and trisomy 8.

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Onset of chronic myeloid leukemia with complex karyotype in a pregnant patient: case report and revision of literature

Cited by 5 publications

References 23 publications

Complex Karyotype in Hematological Diseases: A 6-Year Single Centre Study from Pakistan

Complex Karyotype in Hematological Diseases: A 6-Year Single Centre Study from Pakistan

Chronic myeloid leukemia: cytogenetics and molecular biology’s part in the comprehension and management of the pathology and treatment evolution

Chromosomal Aberrations in Chronic Myeloid Leukemia: Response to Conventional TKIs and Risk of Blastic Transformation

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