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Amplification of multiple regions of chromosome 12, including 12q13–15, in chronic lymphocytic leukaemia
Author(s) -
Merup Mats,
Juliusson Gunnar,
Wu Xiushan,
Jansson Monika,
Stellan Birgitta,
Rasool Omid,
Röijer Eva,
Stenman Göran,
Gahrton Gösta,
Einhorn Stefan
Publication year - 1997
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1997.tb00944.x
Subject(s) - biology , amplicon , trisomy , chronic lymphocytic leukemia , gene duplication , cosmid , gene , chromosome , somatic evolution in cancer , breakpoint cluster region , genetics , chromosome abnormality , chromosome 12 , cancer research , karyotype , leukemia , polymerase chain reaction
Trisomy 12 is a frequent abnormality in chronic lymphocytic leukaemia (CLL). The biological importance of trisomy 12 is still poorly understood but it has been suggested that one or several genes are duplicated leading to malignant transformation. We present a case with amplification of 12q13–22 found in a clinically aggressive relapse of CLL. A smaller region, 12q13–15, was amplified most frequently and a YAC containing the MDM2 gene gave the highest number of signals. Additionally, in a subclone an amplicon containing at least 5 copies of a cosmid from 12q23–24 was detected. The case shows that small duplications of chromosome 12, not revealed by cytogenetic analysis, may occur in CLL. Also, it shows that cytogenetic clonal evolution can occur in CLL without morphological evidence of blast transformation. Our results indicate that the 12q13–15 region carries an important gene for CLL progression.