Document Detail

Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion.
MedLine Citation:
PMID:  22217494     Owner:  NLM     Status:  Publisher    
Chromosome 1 is the largest of all human chromosomes, containing 3141 genes. It is linked to 890 known genetic diseases including congenital hypothyroidism, hemochromatosis, and prostate cancer. Recognized deletion and duplication syndromes have been described. Deletions in the short arm (p) of the chromosome have been identified in tumors of the brain and kidneys. Duplications in the long (q) arm of the chromosome are reported in myelodysplastic syndromes. Solitary 1p36 deletion or 1q42 duplication are rarely reported entities and their associations with malignancy have not been characterized. We report a case of a child with constitutional 1pter-p36.31 duplication and 1q43-qter deletion who developed acute lymphoblastic leukemia (ALL). The patient's oncologic presentation and subsequent clinical course raise the question of the association of the underlying genetic abnormality and its malignant potential, specifically in relation to ALL. Acquired chromosome 1 deletions and duplications have been well described in other malignant diseases. Constitutional chromosome 1p duplication and 1q deletions have not been described with ALL.
Sarah Khan; Heather Toews; Jia-Chi Wang; Jorge Arredondo; John Provias; Gudrun Göhring; Ronald D Barr
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-12-31
Journal Detail:
Title:  Journal of pediatric hematology/oncology     Volume:  -     ISSN:  1536-3678     ISO Abbreviation:  -     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2012-1-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9505928     Medline TA:  J Pediatr Hematol Oncol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
*Health Sciences Centre, McMaster University, Hamilton, ON, Canada †Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany.
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