Analysis of T-cell receptor and immunoglobulin gene rearrangements in the diagnosis of Hodgkin's and non-Hodgkin's lymphoma

1990 ◽  
Vol 161 (3) ◽  
pp. 245-254 ◽  
Author(s):  
Sarah Gledhill ◽  
Andrew S. Krajewski ◽  
A. Edna Dewar ◽  
David E. Onions ◽  
Ruth F. Jarrett
Blood ◽  
2000 ◽  
Vol 96 (1) ◽  
pp. 203-209 ◽  
Author(s):  
Jeroen G. Noordzij ◽  
Nicole S. Verkaik ◽  
Nico G. Hartwig ◽  
Ronald de Groot ◽  
Dik C. van Gent ◽  
...  

The proteins encoded by RAG1 and RAG2 can initiate gene recombination by site-specific cleavage of DNA in immunoglobulin and T-cell receptor (TCR) loci. We identified a new homozygous RAG1 gene mutation (631delT) that leads to a premature stop codon in the 5′ part of the RAG1 gene. The patient carrying this 631delT RAG1 gene mutation died at the age of 5 weeks from an Omenn syndrome-like T+/B−severe combined immunodeficiency disease. The high number of blood T-lymphocytes (55 × 106/mL) showed an almost polyclonal TCR gene rearrangement repertoire not of maternal origin. In contrast, B-lymphocytes and immunoglobulin gene rearrangements were hardly detectable. We showed that the 631delT RAG1 gene can give rise to an N-terminal truncated RAG1 protein, using an internal AUG codon as the translation start site. Consistent with the V(D)J recombination in T cells, this N-terminal truncated RAG1 protein was active in a plasmid V(D)J recombination assay. Apparently, the N-terminal truncated RAG1 protein can recombine TCR genes but not immunoglobulin genes. We conclude that the N-terminus of the RAG1 protein is specifically involved in immunoglobulin gene rearrangements.


Blood ◽  
1987 ◽  
Vol 70 (1) ◽  
pp. 186-191 ◽  
Author(s):  
MG Brinker ◽  
S Poppema ◽  
CH Buys ◽  
W Timens ◽  
J Osinga ◽  
...  

Abstract The nature of Reed-Sternberg cells, the abnormal cells of Hodgkin's disease, is controversial. Morphological and immunologic marker studies suggested different cells of origin. To investigate a possible B or T cell origin, immunoglobulin and T cell receptor gene analyses were performed on tissues from 11 patients in early and late stages of Hodgkin's disease. In addition, the immunologic marker patterns of the Reed-Sternberg cells were determined. Rearrangements of immunoglobulin heavy- and light-chain genes were detected in tissues from five patients, particularly in late stages of the disease when lymphocyte depletion had occurred. No rearrangements of T cell receptor genes were found. The results indicate that clonal immunoglobulin gene rearrangements can be detected in tissues involved by Hodgkin's disease.


Blood ◽  
1987 ◽  
Vol 70 (1) ◽  
pp. 287-292 ◽  
Author(s):  
E Hu ◽  
LM Weiss ◽  
R Warnke ◽  
J Sklar

Abstract We describe a patient in whom two lymph node biopsies removed 18 months apart disclosed histologic and immunophenotypic evidence of a non- Hodgkin's lymphoma containing neoplastic lymphocytes of both B and T type. Analyses of immunoglobulin and T cell receptor genes confirmed the presence of separate B and T cell clones. In addition, immunogenotyping revealed the possibility of a second B cell clone within the patient's tumor. Development of a multiclonal lymphoma in this patient may relate to the carcinogenic effects of chemotherapy or to a predisposition for neoplastic transformation of lymphocytes due to a previously diagnosed autoimmune condition. Another possible explanation is that the lymphoma implies the existence in this patient of a transformed lymphocyte-committed stem cell that is capable of generating both B and T lineage clones.


1987 ◽  
Vol 77 (3) ◽  
pp. 172-176 ◽  
Author(s):  
Masao Matsuoka ◽  
Norio Asou ◽  
Toshio Hattori ◽  
Takashi Matsuo ◽  
Hiromichí Nishimura ◽  
...  

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