Complex karyotype in myelodysplastic syndromes: Diagnostic procedure and prognostic susceptibility

Shahjahani, Mohammad; Hadad, Elham Homaei; Azizidoost, Shirin; Nezhad, Kowsar Chenani; Shahrabi, Saeid

doi:10.4081/oncol.2019.389

Cited by 14 publications

(8 citation statements)

References 64 publications

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“…Complex cytogenetics in MDS is associated with mutant TP53 and can be associated with progression to AML [24]. In our data, TP53 mutant genes from patients with very complex cytogenetics (very poor subgroup) had paucity of mutations in other genes, suggesting that it may represent a distinct molecular subclass of MDS with a unique biological mechanism.…”

Section: Discussionmentioning

confidence: 50%

Somatic Mutational Analysis using Next Generation Sequencing in Predicting Disease Behavior of Cytogenetically Normal Myelodysplastic Syndromes

Tria¹,

W²,

Daphne³

et al. 2021

Int J Blood Res Disord

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leukemia (AML) [1]. While cytopenias and morphologic dysplasias are not pathognomonic to MDS, other causes of dyspoiesis are needed to be essentially excluded (including nutritional etiologies, toxin or drug/radiation exposures, vitamin deficiencies, infectious agents, alcohol abuse, autoimmune disorders, chronic kidney and liver diseases, and endocrinopathies) before diagnosing MDS [2].Results from cytogenetic studies by conventional karyotyping and fluorescence in-situ hybridization (FISH) assays serve as important parameters included in the revised international prognostic scoring system (IPSS-R) score in MDS, which is proven to be beneficial for determination of prognostic status of untreated patients with disease [3]. The lower risk MDS patients are defined as those having a risk of very low, low, or intermediate disease according to the IPSS-R with a score of ≤ 3.5 points [4]. The comprehensive cytogenetic scoring system (CCSS) was adapted by the WHO which identifies specific prognostic stratification of MDS based on the cytogenetics clone. Overall survival was reported to be significantly different independently on the cytogenetics status [5].It was reported that chromosomal defects are observed in approximately 50% of primary and 80% of therapy-related MDS (t-MDS) cases [6,7]. It was also evident that prognosis of patients deteriorates with in-

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Section: Discussionmentioning

confidence: 50%

Somatic Mutational Analysis using Next Generation Sequencing in Predicting Disease Behavior of Cytogenetically Normal Myelodysplastic Syndromes

Tria¹,

W²,

Daphne³

et al. 2021

Int J Blood Res Disord

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“…Cytogenic aberrations are a common occurrence in MDS and are present in about 50% of MDS cases. The most common of these aberrations are 5q deletions, abnormalities in chromosome 7, trisomy 8, 20q deletions, and the absence of the Y chromosome [13][14][15][16][17]. To the best of our knowledge, there is a paucity of data regarding high-risk MDS with a complex karyotype and concurrent MGUS with a high risk of progression to AML.…”

Section: Discussionmentioning

confidence: 99%

“…In certain cases, aberrant myeloid cells and plasma cells are present at the time of diagnosis, suggesting genetic origins. Comprehending this atypical dual neoplasm is essential for efficacious therapy strategies [15].…”

Section: Discussionmentioning

confidence: 99%

Co-occurrence of High-Risk Myelodysplastic Syndrome With a Complex Karyotype/TP53 Mutation and IgG Lambda Monoclonal Gammopathy of Undetermined Significance

Mir,

Aiman,

Baah

et al. 2024

Cureus

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Myelodysplastic syndrome (MDS) represents a group of hematologic disorders marked by abnormal cellular development in the bone marrow, while monoclonal gammopathy of undetermined significance (MGUS) involves abnormal plasma cells without symptomatic manifestations. This paper presents a compelling case of a 74-year-old Hispanic female diagnosed with a rare combination of high-risk MDS characterized by a complex karyotype and TP53 mutation, alongside IgG lambda MGUS. The patient's clinical presentation included a spectrum of symptoms such as body aches, rash, fever, dyspnea, and bloody watery diarrhea. Initial diagnostic evaluations yielded no significant findings, but subsequent investigations revealed abnormalities in both bone marrow and peripheral blood, indicative of coexisting MDS and MGUS. Chromosomal analysis further confirmed the presence of a complex karyotype with multiple aberrations, notably including 5q deletion. This case underscores the rarity of simultaneous high-risk MDS and MGUS, particularly with the additional complexity of a TP53 mutation and complex karyotype. It underscores the imperative for continued research efforts to elucidate the underlying mechanisms and optimal management strategies for such intricate cases. Moreover, it highlights the therapeutic challenges posed by concurrent MDS and plasma cell disorders, advocating for more aggressive interventions such as stem cell transplantation as potential avenues for improved patient outcomes.

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“…However, the Medical Research Council Acute Myeloid Leukemia 10 trial (MRC AML10) required the presence of ≥5 independent cytogenetic abnormalities. It is known that CK is associated with a poor prognosis in hematological malignancies [11].…”

Section: Molecular Evolution Of Mds From Genotype To Phenotype and Pr...mentioning

confidence: 99%

Myelodysplastic Neoplasms (MDS): The Current and Future Treatment Landscape

Karel,

Valburg,

Woddor

et al. 2024

Current Oncology

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Myelodysplastic neoplasms (MDS) are a heterogenous clonal disorder of hemopoietic stem cells characterized by cytomorphologic dysplasia, ineffective hematopoiesis, peripheral cytopenias and risk of progression to acute myeloid leukemia (AML). Our understanding of this disease has continued to evolve over the last century. More recently, prognostication and treatment have been determined by cytogenetic and molecular data. Specific genetic abnormalities, such as deletion of the long arm of chromosome 5 (del(5q)), TP53 inactivation and SF3B1 mutation, are increasingly associated with disease phenotype and outcome, as reflected in the recently updated fifth edition of the World Health Organization Classification of Hematolymphoid Tumors (WHO5) and the International Consensus Classification 2022 (ICC 2022) classification systems. Treatment of lower-risk MDS is primarily symptom directed to ameliorate cytopenias. Higher-risk disease warrants disease-directed therapy at diagnosis; however, the only possible cure is an allogenic bone marrow transplant. Novel treatments aimed at rational molecular and cellular pathway targets have yielded a number of candidate drugs over recent years; however few new approvals have been granted. With ongoing research, we hope to increasingly offer our MDS patients tailored therapeutic approaches, ultimately decreasing morbidity and mortality.

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Complex karyotype in myelodysplastic syndromes: Diagnostic procedure and prognostic susceptibility

Cited by 14 publications

References 64 publications

Somatic Mutational Analysis using Next Generation Sequencing in Predicting Disease Behavior of Cytogenetically Normal Myelodysplastic Syndromes

Somatic Mutational Analysis using Next Generation Sequencing in Predicting Disease Behavior of Cytogenetically Normal Myelodysplastic Syndromes

Co-occurrence of High-Risk Myelodysplastic Syndrome With a Complex Karyotype/TP53 Mutation and IgG Lambda Monoclonal Gammopathy of Undetermined Significance

Myelodysplastic Neoplasms (MDS): The Current and Future Treatment Landscape

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