Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury

A 36-year-old man who underwent hematopoietic stem cell transplantation (HSCT) at the age of 2 years for severe combined immunodeficiency, presented with jaundice, skin rash, and elevated liver function tests 34 years after HSCT. Liver biopsy showed bile duct injury and cholestasis. Viral studies, a...

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Main Authors: Ejas Palathingal Bava, Sharon Skorupski, Edward Peres, Pegah Dejban, Qing Chang, Brian Theisen, Sanam Husain
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Human Pathology Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2772736X25000064
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author Ejas Palathingal Bava
Sharon Skorupski
Edward Peres
Pegah Dejban
Qing Chang
Brian Theisen
Sanam Husain
author_facet Ejas Palathingal Bava
Sharon Skorupski
Edward Peres
Pegah Dejban
Qing Chang
Brian Theisen
Sanam Husain
author_sort Ejas Palathingal Bava
collection DOAJ
description A 36-year-old man who underwent hematopoietic stem cell transplantation (HSCT) at the age of 2 years for severe combined immunodeficiency, presented with jaundice, skin rash, and elevated liver function tests 34 years after HSCT. Liver biopsy showed bile duct injury and cholestasis. Viral studies, autoimmune panel, review of medications, and imaging did not establish a cause of liver injury. However, graft-versus-host disease (GVHD) was unlikely because of the remote history of HSCT. Short tandem repeat-polymerase chain reaction (STR-PCR) chimerism analysis showed that the percentage of donor DNA in the liver biopsy specimen was very low (11 %); hence, host-versus-graft disease (HVGD) was implicated. Because STR analysis of patient’s blood showed a mixed chimera with 11 % donor DNA, graft failure was suspected; however, fractionated STR analysis ruled out complete graft failure. Overall, this case outlines liver injury caused by HVGD in the absence of complete graft failure 34 years after HSCT, which has never been reported in the literature. STR-PCR analysis was essential for mitigating the diagnostic dilemma.
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spelling doaj-art-bb7df96de5bd4855b4c4aeed18b462132025-08-20T03:26:39ZengElsevierHuman Pathology Reports2772-736X2025-06-014030077410.1016/j.hpr.2025.300774Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injuryEjas Palathingal Bava0Sharon Skorupski1Edward Peres2Pegah Dejban3Qing Chang4Brian Theisen5Sanam Husain6Department of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, MI, USADepartment of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, MI, USADepartment of Hematology and Oncology, Henry Ford Hospital, Detroit, MI, USADepartment of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, MI, USADepartment of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, MI, USADepartment of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, MI, USADepartment of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, MI, USA; Corresponding author at: Department of Pathology, Henry Ford Hospital, Senior Staff Pathologist, Henry Ford Health System, Clinical Associate Professor, Department of Medicine, Michigan State University, 2799 W. Grand Blvd., Pathology - K-6, Detroit, MI 48202 USA.A 36-year-old man who underwent hematopoietic stem cell transplantation (HSCT) at the age of 2 years for severe combined immunodeficiency, presented with jaundice, skin rash, and elevated liver function tests 34 years after HSCT. Liver biopsy showed bile duct injury and cholestasis. Viral studies, autoimmune panel, review of medications, and imaging did not establish a cause of liver injury. However, graft-versus-host disease (GVHD) was unlikely because of the remote history of HSCT. Short tandem repeat-polymerase chain reaction (STR-PCR) chimerism analysis showed that the percentage of donor DNA in the liver biopsy specimen was very low (11 %); hence, host-versus-graft disease (HVGD) was implicated. Because STR analysis of patient’s blood showed a mixed chimera with 11 % donor DNA, graft failure was suspected; however, fractionated STR analysis ruled out complete graft failure. Overall, this case outlines liver injury caused by HVGD in the absence of complete graft failure 34 years after HSCT, which has never been reported in the literature. STR-PCR analysis was essential for mitigating the diagnostic dilemma.http://www.sciencedirect.com/science/article/pii/S2772736X25000064Graft-versus-host disease (GVHD)Hematopoietic stem cell transplantation (HSCT)Short tandem repeat-polymerase chain reaction (STR-PCR) chimerism analysisHost-versus-graft disease (HVGD)Liver injury
spellingShingle Ejas Palathingal Bava
Sharon Skorupski
Edward Peres
Pegah Dejban
Qing Chang
Brian Theisen
Sanam Husain
Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury
Human Pathology Reports
Graft-versus-host disease (GVHD)
Hematopoietic stem cell transplantation (HSCT)
Short tandem repeat-polymerase chain reaction (STR-PCR) chimerism analysis
Host-versus-graft disease (HVGD)
Liver injury
title Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury
title_full Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury
title_fullStr Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury
title_full_unstemmed Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury
title_short Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury
title_sort suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury
topic Graft-versus-host disease (GVHD)
Hematopoietic stem cell transplantation (HSCT)
Short tandem repeat-polymerase chain reaction (STR-PCR) chimerism analysis
Host-versus-graft disease (HVGD)
Liver injury
url http://www.sciencedirect.com/science/article/pii/S2772736X25000064
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