AB028. Germ line mutation associated acute leukemia in childhood: different genetic landscape and therapeutic strategies

2018 ◽  
Vol 1 ◽  
pp. AB028-AB028
Author(s):  
Zhan He Wu
Keyword(s):  
Acute Leukemia ◽  
Germ Line ◽  
Therapeutic Strategies ◽  
Genetic Landscape ◽  
Germ Line Mutation

scholarly journals Germ-line Mutation Analysis in Patients with von Hippel-Lindau Disease in Japan: An Extended Study of 77 Families

2000 ◽  
Vol 91 (2) ◽  
pp. 204-212 ◽  
Author(s):  
Minoru Yoshida ◽  
Shingo Ashida ◽  
Keiichi Kondo ◽  
Kazuki Kobayashi ◽  
Hiroshi Kanno ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Germ Line ◽  
Extended Study ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Germ Line Mutation

scholarly journals Stage specificity, dose response, and doubling dose for mouse minisatellite germ-line mutation induced by acute radiation

1998 ◽  
Vol 95 (11) ◽  
pp. 6251-6255 ◽  
Author(s):  
Y. E. Dubrova ◽  
M. Plumb ◽  
J. Brown ◽  
J. Fennelly ◽  
P. Bois ◽  
...  
Keyword(s):  
Dose Response ◽  
Germ Line ◽  
Acute Radiation ◽  
Doubling Dose ◽  
Stage Specificity ◽  
Germ Line Mutation

The genetics of inherited cancers

2010 ◽  
pp. 358-371
Author(s):  
Rosalind A. Eeles
Keyword(s):  
Somatic Cell ◽  
Cancer Cell ◽  
Germ Line ◽  
Cancer Predisposition ◽  
Cellular Growth ◽  
Germ Line Mutation ◽  
Cancer Predisposition Gene

All cancer can be termed ‘genetic’ as cancer is caused by somatic cell mutations (alterations in the DNA code), which result in abnormal cellular growth and/or proliferation. Most of these mutations are sporadic (only occurring in the cancer cell), but some are due to the inheritance of a germ-line mutation in a cancer predisposition gene....

scholarly journals Prethymic Cytoplasmic CD3 Negative Acute Lymphoblastic Leukemia or Acute Undifferentiated Leukemia: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-4
Author(s):  
Elisa Cannizzo ◽  
Giovanni Carulli ◽  
Luigi Del Vecchio ◽  
Antonio Azzarà ◽  
Sara Galimberti ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Acute Leukemia ◽  
Gene Rearrangement ◽  
Germ Line ◽  
Lymphoblastic Leukemia ◽  
Terminal Deoxynucleotidyl Transferase ◽  
Line Configuration ◽  
Hla Dr ◽  
Molecular Studies

Acute undiffentiated leukemia (AUL) is an acute leukemia with no more than one membrane marker of any given lineage. Blasts often express HLA-DR, CD34, and/or CD38 and may be positive for terminal deoxynucleotidyl transferase (TdT). The expression of CD34, HLA-DR, and CD38 has been shown in pro-T-ALL, although in this case, blasts should also express CD7 and cyCD3. However, some cases of T-ALL without CD3 in the cytoplasm and all TCR chain genes in germ line configuration are reported, features that fit well with a very early hematopoietic cell. We report a case of acute leukemia CD34+/−HLADR+CD7+CD38+cyCD3− in which a diagnosis of AUL was considered. However the blasts were also positive for CD99 and TCR delta gene rearrangement which was found on molecular studies. Therefore a differential diagnosis between AUL and an early cyCD3 negative T-ALL was debated.

scholarly journals Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa

2001 ◽  
Vol 85 (8) ◽  
pp. 1201-1205 ◽  
Author(s):  
S Staff ◽  
J J Isola ◽  
O Johannsson ◽  
Å Borg ◽  
M M Tanner
Keyword(s):  
Germ Line ◽  
Breast Tumours ◽  
Mutation Carriers ◽  
Germ Line Mutation

Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion

2008 ◽  
Vol 50 (2) ◽  
pp. 167-171 ◽  
Author(s):  
Ahmad H. Sadewa ◽  
Teguh H. Sasongko ◽  
Myeong J. Lee ◽  
Kazunari Daikoku ◽  
Akiyo Yamamoto ◽  
...  
Keyword(s):  
Germ Line ◽  
Japanese Family ◽  
Germ Line Mutation
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