Research & Literature

Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).

Barone A, Lucarelli A, Onofrillo D, et al.

Blood cells, molecules & diseases 2015; (55(1)):40-7.

Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.

Peffault de Latour R, Peters C, Gibson B, et al.

Bone marrow transplantation 2015; (50(9)):1168-72 doi:10.1038/bmt.2015.117.

Endogenous Formaldehyde Is a Hematopoietic Stem Cell Genotoxin and Metabolic Carcinogen.

Pontel LB, Rosado IV, Burgos-Barragan G, et al.

Molecular cell 2015; (60(1)):177-88.

Neonatal manifestations of inherited bone marrow failure syndromes.

Khincha PP, Savage SA

Seminars in fetal & neonatal medicine 2016; (21(1)):57-65.

How I treat MDS and AML in Fanconi anemia.

Peffault de Latour R, Soulier J

Blood 2016; (127(24)):2971-9 doi:10.1182/blood-2016-01-583625.

How I treat acquired aplastic anemia.

Bacigalupo A

Blood 2017; (129(11)):1428-1436 doi:10.1182/blood-2016-08-693481.

Multiple and Recurrent Squamous Cell Carcinoma of the Oral Cavity After Graft-Versus-Host Disease.

Weng X, Xing Y, Cheng B

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 2017; (75(9)):1899-1905 doi:10.1016/j.joms.2017.02.012.

Bone mineral density in patients with inherited bone marrow failure syndromes.

Shankar RK, Giri N, Lodish MB, et al.

Pediatric research 2017; (82(3)):458-464 doi:10.1038/pr.2017.117.

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.

Dietz AC, Savage SA, Vlachos A, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017; (23(9)):1422-1428 doi:10.1016/j.bbmt.2017.05.022.

Bone marrow failure in childhood: central pathology review of a nationwide registry.

Ito M

[Rinsho ketsueki] The Japanese journal of clinical hematology 2017; (58(6)):661-668 doi:10.11406/rinketsu.58.661.

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Alter BP, Giri N, Savage SA, Rosenberg PS

Haematologica 2018; (103(1)):30-39 doi:10.3324/haematol.2017.178111.

Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.

West AH, Churpek JE

Hematology. American Society of Hematology. Education Program 2017; (2017(1)):79-87 doi:10.1182/asheducation-2017.1.79.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Alter BP

Hematology. American Society of Hematology. Education Program 2017; (2017(1)):88-95 doi:10.1182/asheducation-2017.1.88.

[Inherited bone marrow failure syndrome: management and diagnostic advances utilizing next-generation sequencing].

Muramatsu H

[Rinsho ketsueki] The Japanese journal of clinical hematology 2018; (59(6)):716-722 doi:10.11406/rinketsu.59.716.

Hematopoietic stem cell transplantation for non-malignant hematological disorders.

Formánková R, Starý J

Vnitrni lekarstvi 2018; (64(5)):530-536.

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.

Khurana M, Edwards D, Rescorla F, et al.

Cold Spring Harbor molecular case studies 2018; (4(5)) doi:10.1101/mcs.a003152.

Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia.

Galera P, Dulau-Florea A, Calvo KR

International journal of laboratory hematology 2019; (41 Suppl 1()):131-141 doi:10.1111/ijlh.12999.

Monitoring and treatment of MDS in genetically susceptible persons.

Davies SM

Hematology. American Society of Hematology. Education Program 2019; (2019(1)):105-109 doi:10.1182/hematology.2019000020.

Idiopathic aplastic anemia vs hypocellular myelodysplastic syndrome.

Durrani J, Maciejewski JP

Hematology. American Society of Hematology. Education Program 2019; (2019(1)):97-104 doi:10.1182/hematology.2019000019.

Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review.

Liu M, Ren Y, Wang X, et al.

Molecular cytogenetics 2020; (13()):37 doi:10.1186/s13039-020-00507-0.

Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.

Oka Y, Hamada M, Nakazawa Y, et al.

Science advances 2020; (6(51)) doi:10.1126/sciadv.abd7197.

Hypoplastic Myelodysplastic Syndromes: Just an Overlap Syndrome?

Fattizzo B, Serpenti F, Barcellini W, Caprioli C

Cancers 2021; (13(1)) doi:10.3390/cancers13010132.

Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.

Mu A, Hira A, Niwa A, et al.

Blood 2021; (137(15)):2021-2032 doi:10.1182/blood.2020009111.

Selective T-cell depletion targeting CD45RA as a novel approach for HLA-mismatched hematopoietic stem cell transplantation in pediatric nonmalignant hematological diseases.

Gasior Kabat M, Bueno D, Sisinni L, et al.

International journal of hematology 2021; (114(1)):116-123 doi:10.1007/s12185-021-03138-2.

Perspectives on formaldehyde dysregulation: Mitochondrial DNA damage and repair in mammalian cells.

Nadalutti CA, Prasad R, Wilson SH

DNA repair 2021; (105()):103134 doi:10.1016/j.dnarep.2021.103134.

Hematopoietic stem cell transplantation for classical inherited bone marrow failure syndromes: an update.

Pierri F, Faraci M, Giardino S, Dufour C

Expert review of hematology 2021; (14(10)):911-925 doi:10.1080/17474086.2021.1977119.

[New insights into inherited bone marrow failure syndrome].

Ito E, Toki T, Kamio T, Terui K

[Rinsho ketsueki] The Japanese journal of clinical hematology 2021; (62(10)):1455-1464 doi:10.11406/rinketsu.62.1455.

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E, Liu S, Galvin A, et al.

Blood advances 2022; (6(1)):297-306 doi:10.1182/bloodadvances.2021005539.

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

Thompson AS, Giri N, Gianferante DM, et al.

Pediatric research 2022; (92(6)):1671-1680 doi:10.1038/s41390-022-02009-8.

Immunosuppressive therapy in severe aplastic anemia.

Patel BA, Townsley DM, Scheinberg P

Seminars in hematology 2022; (59(1)):21-29 doi:10.1053/j.seminhematol.2022.01.002.

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.

Atmar K, Ruivenkamp CAL, Hooimeijer L, et al.

Frontiers in immunology 2022; (13()):883826 doi:10.3389/fimmu.2022.883826.

Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.

Sakaguchi H, Yoshida N

International journal of hematology 2022; (116(1)):16-27 doi:10.1007/s12185-022-03362-4.

Cytogenetics in Fanconi Anemia: The Importance of Follow-Up and the Search for New Biomarkers of Genomic Instability.

Merfort LW, Lisboa MO, Cavalli LR, Bonfim CMS

International journal of molecular sciences 2022; (23(22)) doi:10.3390/ijms232214119.

Dyskeratosis congenita and telomere biology disorders.

Savage SA

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):637-648 doi:10.1182/hematology.2022000394.

Modern management of Fanconi anemia.

Dufour C, Pierri F

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):649-657 doi:10.1182/hematology.2022000393.

Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia.

Sebert M, Gachet S, Leblanc T, et al.

Cell stem cell 2023; (30(2)):153-170.e9 doi:10.1016/j.stem.2023.01.006.

Optimizing diagnostic methods and stem cell transplantation outcomes in pediatric bone marrow failure: a 50-year single center experience.

Vissers L, van der Burg M, Lankester A, et al.

European journal of pediatrics 2023; (182(9)):4195-4203 doi:10.1007/s00431-023-05093-y.

Human leucocyte antigen-matched related haematopoietic stem cell transplantation using low-dose cyclophosphamide, fludarabine and thymoglobulin in children with severe aplastic anaemia.

Alsultan A, Abujoub R, Alsudairy R, et al.

British journal of haematology 2023; (203(2)):255-263 doi:10.1111/bjh.19004.

[A new Fanconi anemia-like disorder, aldehyde degradation deficiency syndrome: two defense mechanisms working together for the genome and hematopoiesis].

Takata M

[Rinsho ketsueki] The Japanese journal of clinical hematology 2023; (64(7)):639-645 doi:10.11406/rinketsu.64.639.

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).

Cuccuini W, Collonge-Rame MA, Auger N, et al.

Current research in translational medicine 2023; (71(4)):103423 doi:10.1016/j.retram.2023.103423.

Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair.

Oka Y, Nakazawa Y, Shimada M, Ogi T

Nature cell biology 2024; (26(5)):784-796 doi:10.1038/s41556-024-01401-2.

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.

Matsumoto M, Oyake M, Itonaga T, et al.

European journal of medical genetics 2024; (69()):104939 doi:10.1016/j.ejmg.2024.104939.

The state of the art in the treatment of severe aplastic anemia: immunotherapy and hematopoietic cell transplantation in children and adults.

Piekarska A, Pawelec K, Szmigielska-Kapłon A, Ussowicz M

Frontiers in immunology 2024; (15()):1378432 doi:10.3389/fimmu.2024.1378432.

Genomic insights into inherited bone marrow failure syndromes in a Korean population.

Lee JM, Kim HS, Yoo J, et al.

British journal of haematology 2024; (205(4)):1581-1589 doi:10.1111/bjh.19509.

ALDH2 mutations and defense against genotoxic aldehydes in cancer and inherited bone marrow failure syndromes.

Woo AY, Jia L

Mutation research 2024; (829()):111870 doi:10.1016/j.mrfmmm.2024.111870.

Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation.

Kagajo M, Moritani K, Iwamoto M, et al.

Leukemia research reports 2024; (22()):100476 doi:10.1016/j.lrr.2024.100476.

Aldehyde-induced DNA-protein crosslinks- DNA damage, repair and mutagenesis.

Blouin T, Saini N

Frontiers in oncology 2024; (14()):1478373 doi:10.3389/fonc.2024.1478373.

Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant.

Morishita Y, Hamada M, Uemura S, et al.

Pediatric blood & cancer 2025; (72(2)):e31465 doi:10.1002/pbc.31465.

Strategies for early detection and detailed characterization of oral lesions and head and neck squamous cell carcinoma in Fanconi anemia patients.

Beddok A, Velleuer E, Sicre de Fontbrune F, et al.

Cancer letters 2025; (617()):217529 doi:10.1016/j.canlet.2025.217529.

European guidelines on treatment and supportive measures in chronic neutropenias: A consensus between the European Hematology Association and the EuNet-INNOCHRON COST Action based on a systematic evidence review.

Fioredda F, Spanoudakis M, Skokowa J, et al.

HemaSphere 2025; (9(4)):e70113 doi:10.1002/hem3.70113.

Design, implementation and evaluation of a model of care for patients with germline predisposition to haematological malignancy and bone marrow failure syndromes.

Fox LC, Goode E, Den Elzen N, et al.

Internal medicine journal 2025; (55(8)):1350-1359 doi:10.1111/imj.70125.

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.

Chenzhuo S, Lingling F, Ang W, et al.

BMC pediatrics 2025; (25(1)):717 doi:10.1186/s12887-025-05948-3.

Extracorporeal Membrane Oxygenation in Pediatric Severe Aplastic Anemia: A Case Report Highlighting Risk-Benefit and Ethical Considerations.

Abraham AS, Mathew MM, Thomas L, et al.

Cureus 2026; (18(3)):e105764 doi:10.7759/cureus.105764.

Enhanced formaldehyde clearance ameliorates differentiation-induced genotoxicity in Fanconi anemia mutant cells.

Wu J, Yang F, Du X, et al.

Cell reports 2026; (45(6)):117449 doi:10.1016/j.celrep.2026.117449.