20.04.2023 | IMAGES
Germline CSF3R, RUNX1 and ETV6 Pathogenic Variants in a Case of Atypical Chronic Myeloid Leukemia: Individual to Familial Unravelling by Next Generation Sequencing
verfasst von:
Aastha Gupta, Aditi Aggarwal, Sanjeev Sharma, Varun Bafana, Shivani Sharma
Erschienen in:
Indian Journal of Hematology and Blood Transfusion
|
Ausgabe 1/2024
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Excerpt
A 27-year male with complaint of persistent fatigue showed mild pallor with no other relevant clinical finding including no hepatosplenomegaly. Complete blood count (CBC) showed leucocytosis (41.16 × 10
9/L), thrombocytopenia (95 × 10
9/L) and mild anaemia (10.6 g/dl). Peripheral smear revealed differential abnormalities (Neutrophils: 43%, Lymphocytes: 12%, Monocytes: 01%, Eosinophils: 0.5%, Basophils: 0.5%, Metamyelocytes: 10.5%, Myelocytes: 27.0%, Blasts: 5.5%) and dysgranulopoiesis with hypo-segmented neutrophils, ring forms and abnormal chromatin clumping [Fig.
1-Panel A, B]. Bone marrow aspiration and biopsy examination demonstrated hypercellular marrow with 100% marrow cellularity, myeloid hyperplasia (Myeloid: erythroid ratio of 9:1), dysmyelopoiesis, adequate megakaryocytes with dysmegakaryopoiesis in form of monolobated and hypolobated megakaryocytes [Fig.
1-Panel C, D]. …