1.Phenotypic and genetic analysis of acute megakaryoblastic leukemia in young children with WT1, MLL-PTD and EVI1 genes.
Liping ZHAO ; Xing CHEN ; Manjiang LI ; Huanliang DENG
Chinese Journal of Medical Genetics 2021;38(7):690-693
OBJECTIVE:
To explore the phenotypic and genetic characteristics of acute megakaryoblastic leukemia (AMKL) in young children accompany by WT1, MLL-PTD and EVI1, in order to improve the diagnosis level of AMKL.
METHODS:
EDTA-K
RESULTS:
White blood cell count was 12.3× 10
CONCLUSION
Acute megakaryocytic leukemia has unique and complex phenotypic and genetics characteristics.
Bone Marrow
;
Child
;
Child, Preschool
;
Chromosome Aberrations
;
Humans
;
Karyotyping
;
Leukemia, Megakaryoblastic, Acute/genetics*
;
MDS1 and EVI1 Complex Locus Protein
;
Megakaryocytes
;
Oncogene Proteins, Fusion
;
WT1 Proteins
2.Analysis of Clinical Characteristics and Prognosis in Children with Acute Megakaryoblastic Leukemia without Down Syndrome.
Shao-Fen LIN ; Shu-Yi GUO ; Su LIU ; Jian WANG ; Ke HUANG ; Yang LI ; Jian-Pei FANG ; Dun-Hua ZHOU
Journal of Experimental Hematology 2021;29(2):374-380
OBJECTIVE:
To analyze the clinical characteristics and treatment effects of children with acute megakaryoblastic leukemia without down syndrome (non-DS-AMKL).
METHODS:
The clinical data of 19 children with non-DS-AMKL treated in the Pediatric Hematology Ward in Sun Yat-sen Memorial Hospital of Sun Yat-sen University from May 2008 to April 2018 were analyzed retrospectively. The clinical characteristics, laboratory test and treatment methods of the children were concluded. All patients were followed up to evaluate the effect of treatment.
RESULTS:
The 19 cases of children included nine male and ten female, the median age of onset was 2 years old. The clinical manifestations showed nonspecific. The median white blood cell of peripheral blood was 15.88×10
CONCLUSION
Non-DS-AMKL was rare in children and difficult to be diagnosed. Determination of MICM classification as early as possible was helpful for diagnosis, and genetic testing played an important role for diagnosis and prognosis evaluation. Early hematopoietic stem cell transplantation in patients with CR after chemotherapy might be an effective way to cure AMKL.
Child
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Child, Preschool
;
DEAD-box RNA Helicases
;
DNA Helicases
;
Down Syndrome
;
Female
;
Humans
;
Leukemia, Megakaryoblastic, Acute/genetics*
;
Male
;
Prognosis
;
Retrospective Studies
;
Trisomy
3.A Novel Mutation in the GATA1 Gene Associated with Acute Megakaryoblastic Leukemia in a Korean Down Syndrome Patient.
In Suk KIM ; Eun Sil PARK ; Jae Young LIM ; Chang Seok KI ; Hyun Sook CHI
Journal of Korean Medical Science 2008;23(6):1105-1108
Although acquired mutations in the GATA1 gene have been reported for Down syndrome-related acute megakaryoblastic leukemia (DS-AMKL) in Caucasians, this is the first report of a Korean Down syndrome patient with AMKL carrying a novel mutation of the GATA1 gene. A 3-yr-old Korean girl with Down syndrome was admitted to our hospital complaining of pallor and fever. The findings of a peripheral blood smear and bone marrow study were compatible with the presence of AMKL. A chromosome study showed 48,XX,-7,+21c,+21,+r[3]/47,XX,+21c[17]. Following GATA1 gene mutation analysis, a novel mutation, c.145dupG (p.Ala49GlyfsX18), was identified in the N-terminal activation domain of the GATA1 gene. This mutation caused a premature termination at codon 67 and expression of an abnormal GATA-1 protein with a defective N-terminal activation domain, and the absence of full-length GATA-1 protein. This case demonstrates that a leukemogenic mechanism for DS-AMKL is contributed by a unique collaboration between overexpressed genes from trisomy 21 and an acquired GATA1 mutation previously seen in Caucasians and now in a Korean patient.
Base Sequence
;
Child, Preschool
;
Chromosomes, Human, Pair 21
;
Down Syndrome/complications/diagnosis/*genetics
;
Female
;
GATA1 Transcription Factor/*genetics
;
Humans
;
Karyotyping
;
Korea
;
Leukemia, Megakaryoblastic, Acute/diagnosis/etiology/*genetics
;
*Mutation
;
Phenotype
;
Trisomy
4.Constitutional Chromosomal Abnormality Identified in a Sibling Donor After Bone Marrow Stem Cell Transplantation in a Pediatric Patient with Acute Megakaryoblastic Leukemia.
Bo Young SEO ; Hyun Woo CHOI ; Min Gu KANG ; Duck CHO ; Seung Jung KEE ; Soo Hyun KIM ; Jong Hee SHIN ; Soon Pal SUH ; Dong Wook RYANG ; Myung Geun SHIN
Annals of Laboratory Medicine 2015;35(1):162-164
No abstract available.
Bone Marrow/pathology
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*Bone Marrow Transplantation
;
Child, Preschool
;
Chromosomes, Human, Pair 11
;
Chromosomes, Human, Pair 2
;
Humans
;
Infant
;
Karyotyping
;
Leukemia, Megakaryoblastic, Acute/genetics/*therapy
;
Male
;
Siblings
;
Tissue Donors
;
Translocation, Genetic/*genetics
;
Transplantation, Homologous
5.A Case of Pentasomy 21 With Two Isochromosome 21s in Acute Megakaryoblastic Leukemia Associated With Down Syndrome.
Yeongchun PARK ; Jinsook LIM ; Yong Hyun KO ; Jimyung KIM ; Gye Cheol KWON ; Sun Hoe KOO
Annals of Laboratory Medicine 2015;35(3):373-375
No abstract available.
*Aneuploidy
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Bone Marrow/pathology
;
Chromosomes, Human, Pair 21
;
Down Syndrome/*complications
;
Female
;
Humans
;
Hyperplasia/pathology
;
In Situ Hybridization, Fluorescence
;
Infant
;
Isochromosomes/*genetics
;
Karyotype
;
Leukemia, Megakaryoblastic, Acute/complications/*diagnosis
;
Megakaryocytes/pathology
6.Development of Acute Megakaryoblastic Leukemia with Isochromosome (12p) after a Primary Mediastinal Germ Cell Tumor in Korea.
Nae YU ; Hye Ryoun KIM ; Young Joo CHA ; Eun Kyung PARK ; Jeong Wook KIM
Journal of Korean Medical Science 2011;26(8):1099-1102
The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently developed acute megakaryoblastic leukemia involving isochromosome (12p). A 25-yr-old man had been diagnosed with a mediastinal GCT and underwent surgical resection and adjuvant chemotherapy. At 1 week after the last cycle of chemotherapy, his peripheral blood showed leukocytosis with blasts. A bone marrow study confirmed the acute megakaryoblastic leukemia. A cytogenetic study revealed a complex karyotype with i(12p). Although additional chemotherapy was administered, the patient could not attain remission and died of septic shock. This case was definitely distinct from therapy-related secondary leukemia in terms of clinical, morphologic, and cytogenetic features. To our knowledge, this is the first case report of a patient with mediastinal GCT subsequently developing acute megakaryoblastic leukemia involving i(12p) in Korea.
Adult
;
Antineoplastic Combined Chemotherapy Protocols/therapeutic use
;
Bleomycin/administration & dosage
;
Bone Marrow/pathology
;
*Chromosomes, Human, Pair 12
;
Cisplatin/administration & dosage
;
Etoposide/administration & dosage
;
Humans
;
Isochromosomes
;
Karyotyping
;
Leukemia, Megakaryoblastic, Acute/drug therapy/etiology/*genetics
;
Male
;
Mediastinal Neoplasms/*diagnosis/drug therapy/surgery
;
Neoplasms, Germ Cell and Embryonal/*diagnosis/drug therapy/surgery
;
Neoplasms, Second Primary/drug therapy/etiology/*genetics
;
Republic of Korea
;
Shock, Septic/pathology