The class II tumour suppressor gene RARRES3 maps to 11q12, not 11q23.
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Chromosome Mapping↗
Biomedical subjects
R L Auer
Publications and source records attributed to R L Auer.
Role for CCG-trinucleotide repeats in the pathogenesis of chronic lymphocytic leukemia.
Chromosome 11q deletions are frequently observed in chronic lymphocytic leukemia (CLL) in association with progressive disease and a poor prognosis. A minimal region of deletion has been assigned to 11q22-q23. Trinucleotide repeats have been associated with anticipation in disease, and evidence of anticipation has been observed in various malignancies including CLL. Loss of heterozygosity at 11q22-23 is common in a wide range of cancers, suggesting this is an unstable area prone to chromosome breakage. The location of 8 CCG-trinucleotide repeats on 11q was determined by Southern blot analysis of a 40-Mb YAC and PAC contig spanning 11q22-qter. Deletion breakpoints in CLL are found to co-localize at specific sites on 11q where CCG repeats are located. In addition, a CCG repeat has been identified within the minimal region of deletion. Specific alleles of this repeat are associated with worse prognosis. Folate-sensitive fragile sites are regions of late replication and are characterized by CCG repeats. The mechanism for chromosome deletion at 11q could be explained by a delay in replication. Described here is an association between CCG repeats and chromosome loss suggesting that in vivo "fragile sites" exist on 11q and that the instability of CCG repeats may play an important role in the pathogenesis of CLL.
B-Lymphocytes↗
Philadelphia-positive T-ALL in a patient with follicular lymphoma.
Follicular lymphoma is a B cell malignancy prone to transformation into a large cell diffuse histology. This progression may be multi-clonal as determined by IgH rearrangement. Similar multi-clonal occurrences have been described in immunocompromised patients. However, the lymphoma cells remain predominantly of B cell type. Rarely, composite lymphomas with diffuse T cell histology have been reported arising from follicular lymphoma. The development of T cell leukaemia in a patient with a pre-existing B cell malignancy is an extremely rare event. The occurrence of T cell acute lymphoblastic leukaemia (T-ALL) following follicular lymphoma (FL) has not previously been reported. We report a case of Philadelphia positive (Ph+) T cell ALL developing in a patient who previously had FL which may give some insight into the cell of origin and the defects responsible for malignant transformation of the lymphocytes.
Adult↗
The sequential analysis of trisomy 12 in B-cell chronic lymphocytic leukaemia.
In this longitudinal study we evaluated the clinical significance of screening for trisomy 12 by fluorescence in situ hybridization (FISH) and correlated these findings with survival, disease progression and need for treatment. Interphase FISH was performed on 85 patients in 1993/94 and repeated on 41 patients in 1996/97. Over the 4-year period there was no significant change in the percentage of trisomic cells, even in patients with disease progression. Overall survival and requirement for treatment were similar for patients with and without FISH-defined trisomy 12.
Chromosomes, Human, Pair 12↗
Circulating CD34+ counts and apheresis planning.
The success of peripheral blood progenitor cell (PBPC) transplantation depends upon harvesting adequate numbers of cells and accurate prediction of when to commence apheresis. Although peripheral white cell count (WBC) is commonly used to identify when to initiate apheresis it does not uniformly predict the CD34+ content of the apheresis product nor the number of exchange procedures required. We investigated whether the peripheral blood CD34+ count would not only predict harvest yield but whether it would also predict the number of apheresis procedures needed to generate at least 2 x 10(6)/kg CD34+ cells. CD34+ counts were performed over an 8-month period on the peripheral blood and PBPC harvests of all patients undergoing leucopheresis. Regression analysis showed a highly significant correlation between peripheral blood CD34+ count and yield of CD34+ cells in the apheresis product. The regression plot with WBC was weaker. We have shown that a peripheral CD34+ count > or = 62 x 10(6)/l is required to confidently achieve an adequate harvest in one apheresis, two aphereses are needed if the initial count is > or = 40 x 10(6)/l. Therefore peripheral blood CD34+ counts not only are able to determine the threshold at which to commence apheresis but are useful in predicting apheresis requirements and planning demands on the apheresis service.
Adult↗