✦ LIBER ✦

Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations

✍ Scribed by Debes H. Christiansen; Frehiwet Desta; Mette K. Andersen; Jens Pedersen-Bjergaard

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 352 KB
Volume: 46
Category: Article
ISSN: 1045-2257
DOI: 10.1002/gcc.20426

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Activating mutations of the PTPN11 gene encoding the SHP2 tyrosine phosphatase is the most common genetic abnormality in juvenile myelomonocytic leukemia and is sporadically observed in myelodysplasia (MDS) and acute myeloid leukemia (AML). An unselected series of 140 patients with therapy‐related MDS or AML were investigated for mutations of PTPN11 in Exons 3, 4, 8, and 13. Four cases had mutations of the gene; three of these had deletions or loss of chromosome arm 7q. Two cases had rare balanced translocations to chromosome band 21q22 with rearrangement of the RUNX1 gene and the other two patients had rare balanced translocations to chromosome band 3q26 with rearrangement of the EVI1 gene. The findings support cooperation between so called Class I and Class II mutations in leukemogenesis. © 2007 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Absence of point mutations within theAML

Absence of point mutations within theAML-1 gene in patients with MDS/AML and loss of chromosome 5q or 7

✍ T. Ferrari; B. Weber; S. Pils; J. Harbott; A. Borkhardt 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 43 KB

Duplication or amplification of chromoso

Duplication or amplification of chromosome band 11q23, including the unrearranged MLL gene, is a recurrent abnormality in therapy-related MDS and AML, and is closely related to mutation of the TP53 gene and to previous therapy with alkylating agents

✍ Mette K. Andersen; Debes H. Christiansen; Maria Kirchhoff; Jens Pedersen-Bjergaa 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB 👁 1 views

## Abstract Gene amplification is a rare phenomenon in acute leukemia, but recently amplification of specific chromosome bands containing genes rearranged in leukemia‐specific balanced chromosome translocations has been reported in a few cases. We detected duplication or amplification of chromosome

Centromeric breakage and highly rearrang

Centromeric breakage and highly rearranged chromosome derivatives associated with mutations of TP53 are common in therapy-related MDS and AML after therapy with alkylating agents: An M-FISH study

✍ Mette K. Andersen; Debes H. Christiansen; Jens Pedersen-Bjergaard 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 339 KB

## Abstract Multicolor fluorescence in situ hybridization (M‐FISH) was performed on bone marrow cells of 116 unselected cases of therapy‐related myelodysplasia (t‐MDS) or acute myeloid leukemia (t‐AML), and the results were compared with those of previously performed with G‐banding. Among 18 patien

Rearrangement of the MOZ gene in pediatr

Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11)

✍ Toshihiko Imamura; Naoki Kakazu; Shigeyoshi Hibi; Akira Morimoto; Yoko Fukushima 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 910 KB

## Abstract In this study, we examined a pediatric case of therapy‐related myelodysplastic syndrome (tMDS). The symptoms developed 17 months after treatment for acute myeloblastic leukemia (AML, M2 subtype according to the French–American–British [FAB] classification) involving a chromosome abnorma