Definition, Epidemiology, Pathophysiology, and Essential Criteria for Diagnosis of Pediatric Chronic Myeloid Leukemia

Suttorp, Meinolf; Millot, Frédéric; Sembill, Stephanie; Deutsch, Hélène; Metzler, Markus

doi:10.3390/cancers13040798

Cited by 21 publications

(20 citation statements)

References 123 publications

(179 reference statements)

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“…Accelerated phase (AP) was described by an increase of blasts up to 15-29%, or 30% promyelocytes in bone marrow or blood. Furthermore, ≥20% basophils and constant low platelet counts of less than 100 × 10 9 /L were detected, and chromosomal abnormalities in Philadelphia cells were discovered [20]. Blast crisis (BC) was defined by the presence of blasts equal to or greater than 30% in bone marrow or blood.…”

Section: Definitions Of Clinical Phases Of Chronic Myeloid Leukemia (Cml) For Stagingmentioning

confidence: 99%

Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

Iqbal

Absar

Akhtar

et al. 2021

Biology

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Background: Chronic myeloid leukemia (CML) is initiated in bone marrow due to chromosomal translocation t(9;22) leading to fusion oncogene BCR-ABL. Targeting BCR-ABL by tyrosine kinase inhibitors (TKIs) has changed fatal CML into an almost curable disease. Despite that, TKIs lose their effectiveness due to disease progression. Unfortunately, the mechanism of CML progression is poorly understood and common biomarkers for CML progression are unavailable. This study was conducted to find novel biomarkers of CML progression by employing whole-exome sequencing (WES). Materials and Methods: WES of accelerated phase (AP) and blast crisis (BC) CML patients was carried out, with chronic-phase CML (CP-CML) patients as control. After DNA library preparation and exome enrichment, clustering and sequencing were carried out using Illumina platforms. Statistical analysis was carried out using SAS/STAT software version 9.4, and R package was employed to find mutations shared exclusively by all AP-/BC-CML patients. Confirmation of mutations was carried out using Sanger sequencing and protein structure modeling using I-TASSER followed by mutant generation and visualization using PyMOL. Results: Three novel genes (ANKRD36, ANKRD36B and PRSS3) were mutated exclusively in all AP-/BC-CML patients. Only ANKRD36 gene mutations (c.1183_1184 delGC and c.1187_1185 dupTT) were confirmed by Sanger sequencing. Protein modeling studies showed that mutations induce structural changes in ANKRD36 protein. Conclusions: Our studies show that ANKRD36 is a potential common biomarker and drug target of early CML progression. ANKRD36 is yet uncharacterized in humans. It has the highest expression in bone marrow, specifically myeloid cells. We recommend carrying out further studies to explore the role of ANKRD36 in the biology and progression of CML.

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Section: Definitions Of Clinical Phases Of Chronic Myeloid Leukemia (Cml) For Stagingmentioning

confidence: 99%

Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

Iqbal

Absar

Akhtar

et al. 2021

Biology

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“…Besides, CLL is an indolent lymphoproliferative disorder manifested by the progressive accumulation of mainly B-lymphocyte in the blood, bone marrow, and lymphatic tissues. 38,49,50 In this study, 57.0% study participants had non-malignant hematological disorders. Regarding non-malignant hematological disorders, 56 (24.6%) cases were erythroid hyperplasia, 24 (10.5%) cases aplastic anemia, 20 (8.8%) cases concomitant IDA and MBA, 16 (7.0%) cases MBA, 8 (3.5%) cases leukemoid reaction, 4 (1.8%) cases IDA, and 2 (0.9%) cases visceral leishmaniasis.…”

Section: Discussionmentioning

confidence: 60%

“…Besides, CLL is an indolent lymphoproliferative disorder manifested by the progressive accumulation of mainly B-lymphocyte in the blood, bone marrow, and lymphatic tissues. 38 , 49 , 50 …”

Section: Discussionmentioning

confidence: 99%

Patterns of Bone Marrow Confirmed Malignant and Non-Malignant Hematological Disorders in Patients with Abnormal Hematological Parameters in Northeast Ethiopia

Ebrahim¹,

Fiseha²,

Debash³

et al. 2022

JBM

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Background Hematological disorders are heterogeneous conditions ranging from malignant to non-malignant disorders. Hematological malignancies comprise a collection of heterogeneous conditions originating from cells of the bone marrow and the lymphatic system. Therefore, this study aimed to determine the pattern of bone marrow confirmed malignant and non-malignant hematological disorders in patients with abnormal hematological parameters. Methods Institutional-based cross-sectional study was conducted in Dessie town from April 2020 to June 2021. A total of 228 study participants who had abnormal hematological parameters and referred for bone marrow examination were included consecutively. About 1.5 mL of bone marrow sample and 3 mL of venous blood sample were collected for bone marrow examination, complete blood count analysis and peripheral blood morphology examination. Wright stain, Sudan black B, and Prussian blue stains were used for staining the bone marrow and peripheral blood smears. The result was expressed in mean and standard deviation and presented in texts and tables. Ratio, frequency, and percentage were used to express the magnitude of malignant and non-malignant hematological disorders. Results The overall prevalence of hematological malignancies among the study participants was 11.4% with 8.8% in male patients. The prevalence of hematological malignancies were 3.5% CML, 2.6% AML, 1.8% CLL and MM, 0.9% ALL and undifferentiated acute leukemia. On the other hand, 57.0% of the study participants had non-malignant hematological disorders. Regarding non-malignant hematological cases, 24.6% were erythroid hyperplasia, 10.5% aplastic anemia, 8.8% concomitant IDA and MBA, 7.0% MBA, 3.5% leukemoid reaction, 1.8% IDA, and 0.9% visceral leishmaniasis. In patients with HM, 66.7% of AML, 100% of CML and CLL, and 75% of MM patients had increased total WBC count, whereas 66.7% of AML, 62.5% of CML, 75% of CLL, and 50% of MM patients had decreased hemoglobin level. On the other hand, 66.7% of AML, and 50% of CML, ALL, and CLL patients had decreased platelet count. Conclusion In this study, 11.4% of the patients had hematological malignant cases, whereas 57% of the patients had non-malignant hematological cases. Therefore, in patients with hematological abnormalities and where conclusive diagnosis could not be made through clinical and other laboratory investigations, bone marrow examination should be done for definitive diagnosis, management and prognosis.

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“…Beyond the fetal life this process termed extramedullary hematopoiesis must always be judged upon as a pathological finding. It causes the organ to increase in size substantially and may become extreme in myeloproliferative disorders (chronic myeloid leukemia, polycythemia vera, essential thrombocythemia, osteomyelofibrosis) or hematologic disorders (osteopetrosis, thalassemia) occurring at a very low incidence in the pediatric population (61). As pathological mechanisms, besides proliferation of hematopoietic cells per se also the sinusoids become occluded thus causing splenomegaly by blood afflux.…”

Section: I) Infectionsmentioning

confidence: 99%

Splenomegaly in Children and Adolescents

Suttorp

Classen²

2021

Front. Pediatr.

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In contrast to other lymphoid tissues making up the immune system, the spleen as its biggest organ is directly linked into the blood circulation. Beside its main task to filter out microorganism, proteins, and overaged or pathologically altered blood cells, also humoral and cellular immune responses are initiated in this organ. The spleen is not palpable during a physical examination in most but not all healthy patients. A correct diagnosis of splenomegaly in children and adolescents must take into account age-dependent size reference values. Ultrasound examination is nowadays used to measure the spleen size and to judge on reasons for morphological alterations in associated with an increase in organ size. An enormous amount of possible causes has to be put in consideration if splenomegaly is diagnosed. Among these are infectious agents, hematologic disorders, infiltrative diseases, hyperplasia of the white pulp, congestion, and changes in the composition and structure of the white pulp by immunologically mediated diseases. This review attempts to discuss a comprehensive list of differential diagnoses to be considered clinically in children and young adolescents.

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Definition, Epidemiology, Pathophysiology, and Essential Criteria for Diagnosis of Pediatric Chronic Myeloid Leukemia

Cited by 21 publications

References 123 publications

Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

Patterns of Bone Marrow Confirmed Malignant and Non-Malignant Hematological Disorders in Patients with Abnormal Hematological Parameters in Northeast Ethiopia

Splenomegaly in Children and Adolescents

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