TY - JOUR
T1 - Posttransplant lymphoproliferative disorder complicating hematopoietic stem cell transplantation in a patient with dyskeratosis congenita
AU - Bohn, Olga L.
AU - Whitten, Joseph
AU - Spitzer, Barbara
AU - Kobos, Rachel
AU - Prockop, Susan
AU - Boulad, Farid
AU - Arcila, Maria
AU - Wang, Lu
AU - Teruya-Feldstein, Julie
PY - 2013/10
Y1 - 2013/10
N2 - Dyskeratosis congenita (DC) is a rare inherited disorder characterized by bone marrow failure and cancer predisposition. We present a case of a 28-year-old woman with DC who was admitted for hematopoietic stem cell transplantation (HSCT) for aplastic anemia and who developed acute myeloid leukemia with complex genetic karyotype abnormalities including the MLL (11q23) gene, 1q25, and chromosome 8. After transplantation, a monomorphic Epstein-Barr virus (EBV) negative posttransplant-associated lymphoproliferative disorder (PTLD) diffuse large B-cell lymphoma was discovered involving the liver, omental tissue, and peritoneal fluid samples showing additional MLL (11q23) gene abnormalities by fluorescence in situ hybridization. Despite treatment, the patient died of complications associated with transplantation and invasive fungal infection. This case represents the first bona fide documented case of EBV-negative monomorphic PTLD host derived, with MLL gene abnormalities in a patient with DC, and shows another possible mechanism for the development of a therapy-related lymphoid neoplasm after transplantation.
AB - Dyskeratosis congenita (DC) is a rare inherited disorder characterized by bone marrow failure and cancer predisposition. We present a case of a 28-year-old woman with DC who was admitted for hematopoietic stem cell transplantation (HSCT) for aplastic anemia and who developed acute myeloid leukemia with complex genetic karyotype abnormalities including the MLL (11q23) gene, 1q25, and chromosome 8. After transplantation, a monomorphic Epstein-Barr virus (EBV) negative posttransplant-associated lymphoproliferative disorder (PTLD) diffuse large B-cell lymphoma was discovered involving the liver, omental tissue, and peritoneal fluid samples showing additional MLL (11q23) gene abnormalities by fluorescence in situ hybridization. Despite treatment, the patient died of complications associated with transplantation and invasive fungal infection. This case represents the first bona fide documented case of EBV-negative monomorphic PTLD host derived, with MLL gene abnormalities in a patient with DC, and shows another possible mechanism for the development of a therapy-related lymphoid neoplasm after transplantation.
KW - acute myeloid leukemia
KW - aplastic anemia
KW - dyskeratosis congenita
KW - posttransplant lymphoproliferative disorder
UR - http://www.scopus.com/inward/record.url?scp=84884696785&partnerID=8YFLogxK
U2 - 10.1177/1066896912468214
DO - 10.1177/1066896912468214
M3 - Article
C2 - 23222806
AN - SCOPUS:84884696785
SN - 1066-8969
VL - 21
SP - 520
EP - 525
JO - International Journal of Surgical Pathology
JF - International Journal of Surgical Pathology
IS - 5
ER -