Ann Lab Med.  2015 Sep;35(5):551-553. 10.3343/alm.2015.35.5.551.

Loss of Mismatched HLA Detected in the Peripheral Blood of an AML Patient who Relapsed After Haploidentical Hematopoietic Stem Cell Transplantation

• Park BG
• Sohn YH
• Oh HB
• Seo EJ
• Jang S
• Hong SP

• KMID: 2369776
• DOI: http://doi.org/10.3343/alm.2015.35.5.551

Abstract

No abstract available.

MeSH Terms

Hematopoietic Stem Cell Transplantation*
Humans

Figure

• 

  Fig. 1 Copy number variation analysis of a bone marrow specimen at relapse using the HumanCytoSNP-12 bead chip demonstrates a logR ratio of 0 and a B allele frequencies (BAF) of 85%, indicating copy number-neutral loss of heterozygosity (CN-LOH) of 6p in all clones (red box). HLA genes are located in 6p, revealing that acquired uniparental disomy was responsible for the loss of the patient-specific HLA allele. Additionally, CN-LOH of 13q12.11-q34 in all clones (a logR ratio of 0 and a BAF of 85%), and CN-LOH of 21q21.3-q22.3 in subclones (a logR ratio of 0.1 and a BAF of 75%) were detected.

Reference

1. Vago L, Perna SK, Zanussi M, Mazzi B, Barlassina C, Stanghellini MT, et al. Loss of mismatched HLA in leukemia after stem-cell transplantation. N Engl J Med. 2009; 361:478–488. PMID: 19641204.

2. Villalobos IB, Takahashi Y, Akatsuka Y, Muramatsu H, Nishio N, Hama A, et al. Relapse of leukemia with loss of mismatched HLA resulting from uniparental disomy after haploidentical hematopoietic stem cell transplantation. Blood. 2010; 115:3158–3161. PMID: 20124217.

3. Tamaki H, Fujioka T, Ikegame K, Yoshihara S, Kaida K, Taniguchi K, et al. Different mechanisms causing loss of mismatched human leukocyte antigens in relapsing t(6;11)(q27;q23) acute myeloid leukemia after haploidentical transplantation. Eur J Haematol. 2012; 89:497–500. PMID: 23033942.

4. Kobayashi S, Kikuta A, Ito M, Sano H, Mochizuki K, Akaihata M, et al. Loss of mismatched HLA in myeloid/NK cell precursor acute leukemia relapse after T cell-replete haploidentical hematopoietic stem cell transplantation. Pediatr Blood Cancer. 2014; 61:1880–1882. PMID: 24464971.

5. Barrios M, Jiménez-Velasco A, Roman-Gómez J, Madrigal ME, Castillejo JA, Torres A, et al. Chimerism status is a useful predictor of relapse after allogeneic stem cell transplantation for acute leukemia. Haematologica. 2003; 88:801–810. PMID: 12857560.

6. Raghavan M, Smith LL, Lillington DM, Chaplin T, Kakkas I, Molloy G, et al. Segmental uniparental disomy is a commonly acquired genetic event in relapsed acute myeloid leukemia. Blood. 2008; 112:814–821. PMID: 18490517.

7. Barresi V, Romano A, Musso N, Capizzi C, Consoli C, Martelli MP, et al. Broad copy neutral-loss of heterozygosity regions and rare recurring copy number abnormalities in normal karyotype-acute myeloid leukemia genomes. Genes Chromosomes Cancer. 2010; 49:1014–1023. PMID: 20725993.