Progression of a myelodysplastic syndrome with trisomy 8 to acute lymphoblastic leukemia

Mishima, Aki; Aoba, Mami; Yamaji, Satoshi; Taguchi, Jun; Kanamori, Heiwa; Motomura, Shigeki; Mohri, Hiroshi; Ōkubo, Takao

doi:10.1002/(sici)1096-8652(199808)58:4<342::aid-ajh20>3.0.co;2-8

Cited by 6 publications

(2 citation statements)

References 4 publications

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“…This case along with the previous reported ones strengthens the hypothesis that leukemic transformation occurs at the level of pleuripotential-lymphopoietic-hemopoitic stem cell and that there is common precursor to myeloid and lymphoid lineages. 20,21 Alternatively, the rarity of transformation of MDS into ALL as compared with AML may be due to a relatively reduced capacity of the MDS stem cell to undergo lymphoid transformation due to intrinsic or extrinsic factors related to MDS stroma, and/or that MDS-related ALL and AML arise from biologically distinct target cells. 7 The case raises further questions about the biology of MDS and the potential role of cyclosporine in leukemic transformation.…”

Section: Discussionmentioning

confidence: 99%

Transformation of Childhood MDS-refractory Anemia to Acute Lymphoblastic Leukemia

Goel

Kumar²,

Bakhshi³

2007

Journal of Pediatric Hematology/Oncology

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Myelodysplastic syndromes (MDS) are clonal disorders of hematopoietic stem cell. Patients have a deteriorating course with about 30% evolving into acute leukemias usually of the myeloid phenotype. Evolution into acute lymphoblastic leukemia is a rare and intriguing phenomenon seen in far less than 1% of adult cases, and extremely rare in pediatric population. We report a case of childhood MDS-refractory anemia transforming into acute lymphoblastic leukemia after an interval of 21 months since presentation and being on cyclosporine therapy for 9.5 months. The case raises further questions about the biology of MDS and the potential role of cyclosporine in leukemic transformation.

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Section: Discussionmentioning

confidence: 99%

Transformation of Childhood MDS-refractory Anemia to Acute Lymphoblastic Leukemia

Goel

Kumar²,

Bakhshi³

2007

Journal of Pediatric Hematology/Oncology

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“…In fact, +8 has been identified in a low frequency of lymphoid cells in MDS, and a few trisomy 8-harboring MDS cases have been reported to transform to ALL with +8 [116][117][118] …”

Section: Cell Of Originmentioning

confidence: 99%

Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes

Paulsson

Johansson

2007

Pathologie Biologie

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Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report

Cai

et al. 2022

Clinical Laboratory Analysis

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Background Congenital coagulation factor VII (FVII) deficiency is a rare, autosomal‐recessive haemorrhagic disorder with an estimated incidence of 1:500,000. This disorder is caused by mutations in the F7 gene. Case description Here, we report a pedigree of congenital FVII deficiency. The proband was a 30‐year‐old female with severely low FVII activity and a history of menorrhagia and epistaxis since her childhood who was subsequently diagnosed with congenital compound heterozygous FVII deficiency. A genetic study revealed a novel combination of compound heterozygous mutations (c.64G 〉 A, p.Gly22Ser and c.1027G 〉 A, p.Gly343Ser). Her father and older son had the c.64G 〉 A, p.Gly22Ser (heterozygous) mutation. Her mother and younger son had the c.1027G 〉 A, p.Gly343Ser (heterozygous) mutation. The predicted results of PolyPhen‐2 and MutationTaster indicated that these mutations were probably damaging and disease‐causing, respectively. Conclusion In this study, we identified a novel combination of genetic mutations that could expand the mutant library and help in elucidating the pathogenesis of hereditary human coagulation FVII deficiency. A novel combination of compound heterozygous mutations was reported for the first time in Chinese individuals.

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Progression of a myelodysplastic syndrome with trisomy 8 to acute lymphoblastic leukemia

Cited by 6 publications

References 4 publications

Transformation of Childhood MDS-refractory Anemia to Acute Lymphoblastic Leukemia

Transformation of Childhood MDS-refractory Anemia to Acute Lymphoblastic Leukemia

Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report

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