P-031 Isochromosome 17q10 in MDS/MPN are frequently associated with TET2 mutations and transformation termination of acute megakaryoblastic leukemia
Hongjing ZhouL B LiaoL.L. ZhouH. LiRan CaoMeifang DaiQingjia Edward WangNing XuYiliang WeiX.L. LiuYali DengBiao XuRuTing FengJiao SunRenxi LinXinyuan XuDaphne Ang Guang FanFan‐Yi Meng
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Acute megakaryoblastic leukemia
Isochromosome
Megakaryoblastic leukemia and transient leukemia in Down's syndrome have been reviewed using case reports from the literature and our own experience at the Hospital for Sick Children. The following conclusions have been reached: (1) approximately 20% of leukemia (excluding transient leukemia) in Down's syndrome is acute megakaryoblastic leukemia; (2) approximately 20% of all leukemia in Down's syndrome is transient leukemia; (3) transient leukemia in Down's syndrome is acute megakaryoblastic leukemia; (4) recurrence of acute megakaryoblastic leukemia occurs in 20% of the cases of transient leukemia; and (5) the incidence of acute megakaryoblastic leukemia in Down's syndrome is estimated to be 400 times that in normal children. These observations suggest that a specific form of leukemia, namely acute megakaryoblastic leukemia, has a remarkable association with Down's syndrome.
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Young males have a unique but rare predilection to develop mediastinal nonseminomatous germ cell tumors (NSGCTs) and concomitant acute megakaryoblastic leukemia (AMKL). Common cytogenetic and molecular abnormalities such as isochromosome 12p and somatic Tumor Protein P53(TP53) and Phosphatase And Tensin Homolog (PTEN) mutations have been reported in the presumed mutual neoplastic clones of origin. We report the case of a 17-year-old male who presented with a mediastinal NSGCT with high-grade sarcomatous transformation and a diagnosis of AMKL approximately 4 months later. Next-generation sequencing revealed identical KRAS Proto-Oncogene, GTPase (KRAS) p.Ala146Thr, TP53 p.Leu257Pro, and PTEN p.Leu181Pro missense mutations at similar variant allele frequencies in both the NSGCT and AMKL samples. Cytogenetic and microarray analyses detected shared copy gains in all chromosomes except chromosomes 9, 13, and Y. Multiple additional clonal chromosomal alterations were detected in the AMKL sample when compared with the NSGCT. This case emphasizes the shared clonal origins of these malignancies and identifies KRAS and other copy number alterations as potential molecular drivers in a subset of these combined diseases.
Acute megakaryoblastic leukemia
Isochromosome
Tensin
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Acute megakaryoblastic leukemia
Isochromosome
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AbstractA case is presented of a child with mosaic Down syndrome, who presented at birth with a transient leukemia and later progressed to megakaryoblastic leukemia. Evidence is presented that both leukemias were of megakaryoblastic lineage and evolved from a trisomic hematopoietic precursor. This case is unique in the poor course of the initial transient neonatal leukemia with improvement following chemotherapy. It also highlights the form of leukemia and associated myelodysplasia that occurs in children with Down syndrome. This form of leukemia and transient leukemia are interrelated and are unique to children with Down syndrome.Key Words: Down syndrometransient leukemiamegakaryoblastic leukemiamosaicism
Acute megakaryoblastic leukemia
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Myeloproliferative Disorders
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Acute megakaryoblastic leukemia
Hematology
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Isochromosome
Acute megakaryoblastic leukemia
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There is a well-known association in male patients between mediastinal germ cell tumors (GCT) and hematologic malignancies, with a propensity towards acute megakaryoblastic leukemia. These rare malignancies have been shown to share a common clonal origin, often deduced from the finding of isochromosome 12p, i(12p), in cells from both the solid tumor and the leukemia, and thus are now known to represent different manifestations of the same clonal process. We treated a young female patient with a malignant phyllodes tumor followed by an acute megakaryoblastic leukemia and found several of the same marker chromosomes by karyotype analysis of cells from both the tumor and the leukemia implying a common clonal origin of the two. To the best of our knowledge, this has not been demonstrated in phyllodes tumors before, but indicates that the same type of leukemization may occur of this tumor as has been described in mediastinal GCT.
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clone (Java method)
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To investigate the expression levels of serum sICAM-1 and their clinical significances in patients with hyperleukocytic acute leukemia(HLAL).The serum levels of sICAM-1 in 30 hyperleukocytic acute leukemia and 20 non-hyperleukocytic acute leukemia were detected by ELISA,compared with 20 healthy persons as the control group.The expression of sICAM-1 in patients with hyperleukocytic acute leukemia and non-hyperleukocytic acute leukemia were significantly higher than those in control group,expecially in hyperleukocytic acute leukemia.Over expression of sICAM-1 may play a key role in the genesis and progression of hyperleukocytic acute leukemia.
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