Donor Selection and Human Leukocyte Antigen Loss Leukemia Relapse After Hematopoietic Cell Transplantation

K Katharina Fleischhauer (9Institute for Experimental Cellular Therapy, University Hospital Essen, Essen, Germany) C Cristina Toffalori (IRCCS San Raffaele Scientific Institute, Milano, Italy) F Federica Cugnata J Jan A. Hofmann G Giorgio Orofino (1IRCCS San Raffaele Hospital Scientific Institute, Hematology and Bone Marrow Transplantation Unir, Milan, Italy) F Francesca Lorentino (Hematology and Bone Marrow Transplantation Unit, I.R.C.C.S. San Raffaele Scientific Institute, Milano, Italy) M Müberra Ahci-Hanci (Experimental Cellular Therapy, University Hospital Essen, Essen, Germany) V Vinzenz Lange (DKMS Life Science Lab, Dresden, Germany) C Carlheinz R. Müller (Zentrales Knochenmarkspender-Register Deutschland (ZKRD), Ulm, Germany) D Desiree Kunadt (27Medizinische Klinik und Poliklinik I, University Hospital Carl Gustav Carus Dresden, Technical University of Dresden, Dresden, Germany) M Martin Bornhäuser G Guillermo Sanz (26Hospital Universitario y Politécnico La Fe, Hematology Department, Valencia, Spain) R Robert Soiffer (1Dana Farber Cancer Institute, Boston, United States) M Miguel Waterhouse (Department of Internal Medicine I, Hematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany) L Luisa Giaccone H Haris Ali K Kathrin Nachtkamp A Andrea Bacigalupo (10Rome, Rome, Italy) F Francesca Bonifazi L Leo Luznik (2Baylor College of Medicine, Medicine, Houston, United States) L Luca Facchini (Hematology Department, Azienda U.S.L., I.R.C.C.S. di Reggio Emilia, Reggio Emilia, Italy) S Stefania Bramanti (7Bone Marrow Transplant Unit, Humanitas Clinical and Research Center - IRCCS, Humanitas Cancer Center, Rozzano, Italy) A Arnon Nagler (3Division of Hematology and Bone Marrow Transplantation, Chaim Sheba Medical Center, Tel HaShomer, Ramat Gan, Israel) R Riccardo Saccardi (Cellular Therapies and Transfusion Medicine Unit, Careggi University Hospital, Firenze, Italy) F Filippo Milano F Francesco Zallio (Unità trapianti midollo, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, Alessandria, Italy) A Antonio Pierini (21Institute of Hematology, Centro Ricerche Emato-Oncologiche, Ospedale S. Maria della Misericordia, University of Perugia, Perugia, Italy) M Mohamad Mohty N Neal Flomenberg (Sidney Kimmel Cancer Center at Thomas Jefferson University, Philadelphia, PA) A Akifumi Takaori-Kondo N Norbert Vey (7Department of Hematology, Institut Paoli-Calmettes, Marseille, France) T Takanori Teshima N Nicolaus Kröger (From the Department of Stem Cell Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.) C Carolina Martinez Laperche (Department of Hematology, Gregorio Marañón General University Hospital (H.G.U.G.M.), Madrid, Spain) M Marco Andreani (Laboratory of Immunogenetics and Transplant, Department of Oncohematology and Cell and Gene Therapy, I.R.C.C.S. Bambino Gesù Pediatric Hospital, Roma, Italy) M Maria Teresa Lupo Stanghellini (IRCCS San Raffaele Scientific Institute, Italy) J Jacopo Peccatori (1San Raffaele Scientific Institute, Lymphoma Unit, Milan, Italy) C Clelia Di Serio G Guido Kobbe M Monzr M. Al Malki (1City of Hope, Duarte, United States) B Benedetto Bruno R Robert Zeiser R Robert Coleman Lindsley (Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA) J Jaime Sanz (2Hospital Universitari i Politècnic La Fe, Valencia Departament de Medicina Universitat de Valencia, CIBERONC, Instituto Carlos III, Madrid, Spain, Hematology Department, Valencia, Spain) D Dietrich Beelen (2University Hospital Essen, Essen, Germany) F Friedrich Stölzel (8Department of Internal Medicine II, Hematology and Oncology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) J Jürgen Sauter A Alexander H. Schmidt F Fabio Ciceri (Vita-Salute San Raffaele University, Milan) L Luca Vago (Vita-Salute San Raffaele University, Italy) J Juan Montoro M Max Jan (Broad Institute of Harvard and MIT) C Claudia Wehr (1University of Freiburg, Hematology, Oncology and Stem Cell Transplantation, Department of Medicine I, Faculty of Medicine, Freiburg, Germany) A Alessandro Busca K Ketevan Gendzekhadze (1City of Hope, Duarte, United States) E Esther Schuler K Kathrin Putke M Monica Zanussi B Benedetta Mazzi P Pietro Crivello L Luisa Betke E Esteban Arrieta-Bolanos (3University Hospital Essen, Institute for Experimental Cellular Therapy, Essen, Germany) A Amin T. Turki A Alessandra Picardi M Mi Kwon F Francis Ayuk (From the Department of Stem Cell Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.) M Masahiro Onozawa (20Hokkaido University Hospital, Sapporo, Japan) R Raynier Devillier (10Institut Paoli-Calmettes, Service d’hématologie, Marseille, France) J Junya Kanda D Dolores Grosso F Florent Malard (1Sorbonne Université, AP-HP, Centre de Recherche Saint-Antoine INSERM UMRs938, Paris, France) L Loredana Ruggeri H Heidi Altmann E Esperanza Such (Laboratory of Cytogenetics and Molecular Biology. Hospital Universitari i Politècnic La Fe, Valencia, Spain) J Jerome Ritz (Dana–Farber Cancer Institute, Boston) R Ralph Wäsch (18Department of Medicine I, Hematology, Oncology and Stem Cell Transplantation, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany) L Lucia Brunello S Shukaib Arslan (1City of Hope, Duarte, United States) R Ron Patrick Cadeddu M Massimo Pini B Brandon Hadland (1Fred Hutchinson Cancer Center, Seattle, United States) G Giovanni Rombolà I Ivetta Danylesko (1Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel) D Daniele Mannina (1IRCCS Humanitas Research Hospital, Department of Biomedical Sciences, Humanitas University, Rozzano, Italy) A Annalisa Imovilli I Ivana Gojo (Johns Hopkins University, Baltimore, Maryland, United States) M Margherita Ursi P Patrizia Chiusolo (6Section of Hematology, Department of Radiological and Hematological Sciences, Catholic University, Fondazione Policlinico Gemelli IRCCS, Rome, Italy) R Raffaella Cerretti (8Fondazione Policlinico Tor Vergata, Rome, Italy) I Ismael Buño (24Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón, Hematology Department, Madrid, Spain) A Anita Badbaran (From the Department of Stem Cell Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.) H Hideki Goto D Didier Blaise (19Programme de Transplantation & Therapie Cellulaire, Marseille, France) M Mizuki Watanabe (2Kyoto University Hospital, Department of Hematology, Kyoto, Japan) Z Zixuan Wang E Eolia Brissot A Alessandra Carotti (16Sezione di Ematologia, Perugia, Italy) G Giulio Caravagna

Abstract

PURPOSE For patients with hematologic malignancies, relapse is the leading cause of death after allogeneic hematopoietic cell transplantation (allo-HCT). Frequently, relapses are explained by immune evasion through alterations of human leukocyte antigens (HLAs), but determinants and clinical consequences remain poorly defined. METHODS We analyzed 533 relapses of hematologic cancers after allo-HCT from different donor types, conducted at 27 centers worldwide. Genomic loss of mismatched HLA (HLA loss) was assessed using a newly developed next-generation sequencing pipeline. Clinical and immunogenetic factors associated with HLA loss were evaluated. Using HLA data from approximately 5 million individuals, a web-based tool to infer HLA incompatibility phasing was developed. RESULTS HLA loss occurred in 15.6% of relapses, with significant variation according to donor type (28.7% haploidentical family, 7.2% unrelated adult, 2.7% cord blood, P < .0001). The distribution of HLA mismatches across the patient's haplotypes, predicted through the phasing tool, was strongly associated with HLA loss, with an incidence of 27.6% when HLA mismatches were in the same haplotype, compared with 5.4% if present on different haplotypes ( P < .0001). HLA loss affected postrelapse outcomes, abrogating the efficacy of original donor lymphocyte infusions, with significant survival advantage by second allo-HCT from a different donor. CONCLUSION The likelihood of HLA loss varies significantly according to the number and positioning of HLA mismatches between patient and donor. A newly developed phasing tool enables reliable prediction of its risk, supporting informed donor selection. Routine assessment of HLA loss at relapse is warranted, as it critically affects the success of immunologic salvage therapies.

Article Details

Volume / Issue Vol. 44, Issue 23
Published August 10, 2026
Pages 2221-2232
ISSN 0732-183X
Publisher Lippincott Williams & Wilkins

Journal Info

Journal of Clinical Oncology

Lippincott Williams & Wilkins

ISSN: 0732-183X Health Sciences

Authors (98)

K

Katharina Fleischhauer

9Institute for Experimental Cellular Therapy, University Hospital Essen, Essen, Germany

C

Cristina Toffalori

IRCCS San Raffaele Scientific Institute, Milano, Italy

F

Federica Cugnata

J

Jan A. Hofmann

G

Giorgio Orofino

1IRCCS San Raffaele Hospital Scientific Institute, Hematology and Bone Marrow Transplantation Unir, Milan, Italy

F

Francesca Lorentino

Hematology and Bone Marrow Transplantation Unit, I.R.C.C.S. San Raffaele Scientific Institute, Milano, Italy

M

Müberra Ahci-Hanci

Experimental Cellular Therapy, University Hospital Essen, Essen, Germany

V

Vinzenz Lange

DKMS Life Science Lab, Dresden, Germany

C

Carlheinz R. Müller

Zentrales Knochenmarkspender-Register Deutschland (ZKRD), Ulm, Germany

D

Desiree Kunadt

27Medizinische Klinik und Poliklinik I, University Hospital Carl Gustav Carus Dresden, Technical University of Dresden, Dresden, Germany

M

Martin Bornhäuser

G

Guillermo Sanz

26Hospital Universitario y Politécnico La Fe, Hematology Department, Valencia, Spain

R

Robert Soiffer

1Dana Farber Cancer Institute, Boston, United States

M

Miguel Waterhouse

Department of Internal Medicine I, Hematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany

L

Luisa Giaccone

H

Haris Ali

K

Kathrin Nachtkamp

A

Andrea Bacigalupo

10Rome, Rome, Italy

F

Francesca Bonifazi

L

Leo Luznik

2Baylor College of Medicine, Medicine, Houston, United States

L

Luca Facchini

Hematology Department, Azienda U.S.L., I.R.C.C.S. di Reggio Emilia, Reggio Emilia, Italy

S

Stefania Bramanti

7Bone Marrow Transplant Unit, Humanitas Clinical and Research Center - IRCCS, Humanitas Cancer Center, Rozzano, Italy

A

Arnon Nagler

3Division of Hematology and Bone Marrow Transplantation, Chaim Sheba Medical Center, Tel HaShomer, Ramat Gan, Israel

R

Riccardo Saccardi

Cellular Therapies and Transfusion Medicine Unit, Careggi University Hospital, Firenze, Italy

F

Filippo Milano

F

Francesco Zallio

Unità trapianti midollo, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, Alessandria, Italy

A

Antonio Pierini

21Institute of Hematology, Centro Ricerche Emato-Oncologiche, Ospedale S. Maria della Misericordia, University of Perugia, Perugia, Italy

M

Mohamad Mohty

N

Neal Flomenberg

Sidney Kimmel Cancer Center at Thomas Jefferson University, Philadelphia, PA

A

Akifumi Takaori-Kondo

N

Norbert Vey

7Department of Hematology, Institut Paoli-Calmettes, Marseille, France

T

Takanori Teshima

N

Nicolaus Kröger

From the Department of Stem Cell Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

C

Carolina Martinez Laperche

Department of Hematology, Gregorio Marañón General University Hospital (H.G.U.G.M.), Madrid, Spain

M

Marco Andreani

Laboratory of Immunogenetics and Transplant, Department of Oncohematology and Cell and Gene Therapy, I.R.C.C.S. Bambino Gesù Pediatric Hospital, Roma, Italy

M

Maria Teresa Lupo Stanghellini

IRCCS San Raffaele Scientific Institute, Italy

J

Jacopo Peccatori

1San Raffaele Scientific Institute, Lymphoma Unit, Milan, Italy

C

Clelia Di Serio

G

Guido Kobbe

M

Monzr M. Al Malki

1City of Hope, Duarte, United States

B

Benedetto Bruno

R

Robert Zeiser

R

Robert Coleman Lindsley

Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA

J

Jaime Sanz

2Hospital Universitari i Politècnic La Fe, Valencia Departament de Medicina Universitat de Valencia, CIBERONC, Instituto Carlos III, Madrid, Spain, Hematology Department, Valencia, Spain

D

Dietrich Beelen

2University Hospital Essen, Essen, Germany

F

Friedrich Stölzel

8Department of Internal Medicine II, Hematology and Oncology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany

J

Jürgen Sauter

A

Alexander H. Schmidt

F

Fabio Ciceri

Vita-Salute San Raffaele University, Milan

L

Luca Vago

Vita-Salute San Raffaele University, Italy

J

Juan Montoro

M

Max Jan

Broad Institute of Harvard and MIT

C

Claudia Wehr

1University of Freiburg, Hematology, Oncology and Stem Cell Transplantation, Department of Medicine I, Faculty of Medicine, Freiburg, Germany

A

Alessandro Busca

K

Ketevan Gendzekhadze

1City of Hope, Duarte, United States

E

Esther Schuler

K

Kathrin Putke

M

Monica Zanussi

B

Benedetta Mazzi

P

Pietro Crivello

L

Luisa Betke

E

Esteban Arrieta-Bolanos

3University Hospital Essen, Institute for Experimental Cellular Therapy, Essen, Germany

A

Amin T. Turki

A

Alessandra Picardi

M

Mi Kwon

F

Francis Ayuk

From the Department of Stem Cell Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

M

Masahiro Onozawa

20Hokkaido University Hospital, Sapporo, Japan

R

Raynier Devillier

10Institut Paoli-Calmettes, Service d’hématologie, Marseille, France

J

Junya Kanda

D

Dolores Grosso

F

Florent Malard

1Sorbonne Université, AP-HP, Centre de Recherche Saint-Antoine INSERM UMRs938, Paris, France

L

Loredana Ruggeri

H

Heidi Altmann

E

Esperanza Such

Laboratory of Cytogenetics and Molecular Biology. Hospital Universitari i Politècnic La Fe, Valencia, Spain

J

Jerome Ritz

Dana–Farber Cancer Institute, Boston

R

Ralph Wäsch

18Department of Medicine I, Hematology, Oncology and Stem Cell Transplantation, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany

L

Lucia Brunello

S

Shukaib Arslan

1City of Hope, Duarte, United States

R

Ron Patrick Cadeddu

M

Massimo Pini

B

Brandon Hadland

1Fred Hutchinson Cancer Center, Seattle, United States

G

Giovanni Rombolà

I

Ivetta Danylesko

1Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel

D

Daniele Mannina

1IRCCS Humanitas Research Hospital, Department of Biomedical Sciences, Humanitas University, Rozzano, Italy

A

Annalisa Imovilli

I

Ivana Gojo

Johns Hopkins University, Baltimore, Maryland, United States

M

Margherita Ursi

P

Patrizia Chiusolo

6Section of Hematology, Department of Radiological and Hematological Sciences, Catholic University, Fondazione Policlinico Gemelli IRCCS, Rome, Italy

R

Raffaella Cerretti

8Fondazione Policlinico Tor Vergata, Rome, Italy

I

Ismael Buño

24Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón, Hematology Department, Madrid, Spain

A

Anita Badbaran

From the Department of Stem Cell Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

H

Hideki Goto

D

Didier Blaise

19Programme de Transplantation & Therapie Cellulaire, Marseille, France

M

Mizuki Watanabe

2Kyoto University Hospital, Department of Hematology, Kyoto, Japan

Z

Zixuan Wang

E

Eolia Brissot

A

Alessandra Carotti

16Sezione di Ematologia, Perugia, Italy

G

Giulio Caravagna