Fanconi anemia (FA)–associated 3q gains in leukemic transformation consistently target EVI1, but do not affect low TERC expression in FA

S Meyer, C Bristow, M Wappett… - Blood, The Journal …, 2011 - ashpublications.org
S Meyer, C Bristow, M Wappett, S Pepper, AD Whetton, H Hanenberg, H Neitzel…
Blood, The Journal of the American Society of Hematology, 2011ashpublications.org
Although HLA loss in the tumor tissue is one of the escape mechanisms for evading the
immune surveillance system, tumor cells losing HLA-C antigens are recognized and
removed by NK cells. Recently, Villalobos et al demonstrated that the uniparental disomy of
the HLA-C locus as well as the loss of mismatched HLA-A and-B alleles were associated
with leukemic relapse after HLA-haploidentical transplantation. 7 We could not precisely
determine whether the tumor tissue lost noninherited maternal HLA alleles in the present …
Although HLA loss in the tumor tissue is one of the escape mechanisms for evading the immune surveillance system, tumor cells losing HLA-C antigens are recognized and removed by NK cells. Recently, Villalobos et al demonstrated that the uniparental disomy of the HLA-C locus as well as the loss of mismatched HLA-A and-B alleles were associated with leukemic relapse after HLA-haploidentical transplantation. 7 We could not precisely determine whether the tumor tissue lost noninherited maternal HLA alleles in the present study (supplemental Table 1). However, it was crucial that the maternal leukemic cells transmigrated into the paratesticular area, a sanctuary from the immuno-surveillance system, where they were engrafted and proliferated.
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