PMID- 21463659 OWN - NLM STAT- MEDLINE DCOM- 20111003 LR - 20110516 IS - 1879-1166 (Electronic) IS - 0198-8859 (Linking) VI - 72 IP - 6 DP - 2011 Jun TI - Short tandem repeat and human leukocyte antigen mutations or losses confound engraftment and typing analysis in hematopoietic stem cell transplants. PG - 503-9 LID - 10.1016/j.humimm.2011.03.003 [doi] AB - Clonal chromosomal abnormalities are often found in the tumor cells of patients with malignancies. These abnormalities can cause downregulation of human leukocyte antigen (HLA) and instability of short tandem repeat (STR) DNA sequences, confounding HLA typing and/or engraftment analysis in hematopoietic stem cell transplants (HSCT). We describe here the abnormalities observed during testing of 600 HSCT patients. HLA molecular typing was performed by reference strand conformational analyses and/or sequence-based typing. STR testing was performed with 10 to 16 STR primer sets, following 1 to 4 informative loci in each patient. Eight patients exhibited either loss of heterozygosity (4 STR, 3 HLA) or STR length mutation (n = 1), and 5 of the 8 exhibited correlative cytogenetic abnormalities. Diagnoses were acute myelogenous leukemia (AML; n = 7) or myelofibrosis (MFIB: n = 1), yielding an 11% incidence of these chromosomal abnormalities among the subset of 72 AML/MFIB HSCT patients. These results highlight some of the problems encountered and the possibility for interpretive errors that can arise when analyzing molecular typing and engraftment data, particularly among AML/MFIB patients. CI - Copyright (c) 2011. Published by Elsevier Inc. FAU - Pereira, Shalini AU - Pereira S AD - Clinical Research Division, Department of Laboratory Medicine, University of Washington, Seattle, WA 98109, USA. spereira@seattlecca.org FAU - Vayntrub, Tamara AU - Vayntrub T FAU - Hiraki, Debra D AU - Hiraki DD FAU - Cherry, Athena M AU - Cherry AM FAU - Arai, Sally AU - Arai S FAU - Dvorak, Christopher C AU - Dvorak CC FAU - Grumet, F Carl AU - Grumet FC LA - eng PT - Case Reports PT - Journal Article DEP - 20110402 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (HLA Antigens) SB - IM MH - Adult MH - Chromosome Aberrations/statistics & numerical data MH - DNA Mutational Analysis/methods MH - Female MH - HLA Antigens/*genetics MH - *Hematopoietic Stem Cell Transplantation MH - Histocompatibility Testing/methods MH - Humans MH - Incidence MH - Leukemia, Myeloid, Acute/diagnosis/epidemiology/*genetics/immunology MH - Male MH - Microsatellite Repeats/*genetics MH - Mutation/genetics MH - Primary Myelofibrosis/diagnosis/epidemiology/*genetics/immunology MH - Transplantation Tolerance/genetics EDAT- 2011/04/06 06:00 MHDA- 2011/10/04 06:00 CRDT- 2011/04/06 06:00 PHST- 2010/08/06 00:00 [received] PHST- 2011/02/16 00:00 [revised] PHST- 2011/03/09 00:00 [accepted] PHST- 2011/04/06 06:00 [entrez] PHST- 2011/04/06 06:00 [pubmed] PHST- 2011/10/04 06:00 [medline] AID - S0198-8859(11)00056-5 [pii] AID - 10.1016/j.humimm.2011.03.003 [doi] PST - ppublish SO - Hum Immunol. 2011 Jun;72(6):503-9. doi: 10.1016/j.humimm.2011.03.003. Epub 2011 Apr 2.