Complex cytogenetic abnormalities in chronic myeloid leukemia resulting in early progression to blast crisis: a case report

Malakzai, Haider Ali; Rahmani, Soma; Haidary, Ahmed Maseh; Noor, Sarah; Ahmad, Maryam; Ibrahimkhil, Abdul Sami; Sharif, Samuel

doi:10.1186/s13256-020-02539-x

Cited by 7 publications

(6 citation statements)

References 19 publications

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“…Karyotyping and cytogenetic studies of hematological diseases have shown the prognostic impact of chromosomal abnormalities on the diagnosis and treatment of patients over the last three decades. (Malakzai et al, 2020;Grimwade et al, 2001). WHO categorized the hematological neoplasms, but clonal abnormality detection provides the detail insights of prognostic and therapeutics in malignant or premalignant disorders (Mitelman et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan

et al. 2023

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Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.

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Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan

et al. 2023

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“…New clone of cells can arise from the existing clone of leukemic cells, either spontaneously or during the institution of chemotherapy [ 8 ]. Evolved clone(s) of cells contain new genetic abnormalities either in the form of chromosomal aberrations in the form of abnormalities in chromosome number, chromosomal consistency, loss or gain of chromosomal regions, loss of whole chromosome or genetic mutations [ 6 , 8 ]. Such genetic abnormalities in the new clone of neoplastic cells can transform an initially chemotherapy‐responsive acute leukemia to become chemotherapy‐resistant [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…In spite of all the current modalities that are utilized for both diagnostic and prognostic purposes, a significant number of patients do not achieve the therapeutic targets [ 5 ]. Spontaneous clonal evolution results in emergence of clones of neoplastic cells that transforms a previously well‐controlled disease to one that is unresponsive to available therapeutic modalities [ 6 ]. It is very obvious that at cellular and molecular levels, there are many factors, sill unexplored, that take part in intercellular signaling and thus lead to clonal evolution [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Acute lymphoblastic leukemia with clonal evolution due to delay in chemotherapy: A report of a case

Haidary

Saadaat

Abdul‐Ghafar

et al. 2022

eJHaem

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Clonal evolution in acute leukemias is one of the most important factors that leads to therapeutic failure and disease relapse. Delay in therapeutic intervention is one of the reasons that leads toward clonal evolution. In this report, we present a case of acute lymphoblastic leukemia in which therapeutic delay resulted in clonal evolution that was detected by conventional karyotyping and was responsible for non-responsiveness of the disease to conventional chemotherapy. A 17-year-old boy presented with generalized body aches, rapidly progressive pallor and lethargy. Bone marrow analysis was consistent with the diagnosis of B-cell ALL. Karyotypic analysis revealed 46, XY male karyotype. The patient left the hospital due to financial reasons and after 40 days came back to the hospital. Repeated bone marrow analysis including cytogenetic studies revealed presence of three different clones of blast cells: one clone showed 46, XY with del(9p) and t (11;14), second clone showed 46, XY with del(7q) and del(9p), and the third clone showed 46, XY normal karyotype. The patient did not respond to chemotherapy and died within 1 week of induction chemotherapy (HyperCVAD-A). Timely diagnosis and institution of chemotherapy in acute leukemias patients is the key to prevent clonal evolution and thus resistance of the disease to therapeutic interventions.

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“…However, still banding cytogenetic analysis plays an important role in first diagnostics and management of CML [ 22 ]. Besides detection of Ph chromosome, complex chromosomal abnormalities can be identified, which may determine the patient as candidate for alternative and more aggressive therapeutic options, sometimes even leading to allogeneic stem cell transplantation [ 23 – 25 ].…”

Section: Discussionmentioning

confidence: 99%

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

Haidary

Ahmed²,

Abdul‐Ghafar

et al. 2021

Mol Cytogenet

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Background Although, molecular genetic analyses became more and more important to guide therapy decisions in leukemia, banding cytogenetic analysis has retained its vital role in diagnosis and monitoring of chronic myeloid leukemia (CML), by quick and easy enabling identification of pathognomonic Philadelphia chromosome (Ph). Case presentation A 45 year old female presented with characteristic hematological features of CML in chronic phase; cytogenetic studies revealed the presence of the typical Ph and a deletion of almost entire long arm of a chromosome 5. Conclusion 5q deletions have rarely been reported in CML. Those seen yet were either associated with tyrosine kinase inhibitor therapy or detected post allogeneic stem cell transplantation. To our knowledge, this is the first case of Ph positive CML accompanied by a 5q deletion.

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Complex cytogenetic abnormalities in chronic myeloid leukemia resulting in early progression to blast crisis: a case report

Cited by 7 publications

References 19 publications

Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan

Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan

Acute lymphoblastic leukemia with clonal evolution due to delay in chemotherapy: A report of a case

Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

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