Long-term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis

Yabe, Miharu; Morio, Tomohiro; Tabuchi, Ken; Tomizawa, Daisuke; Hasegawa, Daiichiro; Ishida, Hiroyuki; Yoshida, Nao; Kitahara, Takashi; Takahashi, Yoshiyuki; Koh, Katsuyoshi; Okamoto, Yasuhiro; Sano, Hideki; Kato, Keisuke; Kanda, Yoshinobu; Goto, Hiroaki; Takita, Junko; Miyamura, Takako; Noguchi, Maiko; Kato, Koji; Hashii, Yoshiko; Astuta, Yoshiko; Yabe, Hiromasa

doi:10.1007/s12185-020-02991-x

Cited by 18 publications

(22 citation statements)

References 28 publications

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“…However, although HSCT aids in restoring hematopoiesis in patients, the HSCT itself are accompanied by many risks especially in FA. The defective ability of DNA repair in FA may make the patients more susceptible to chemotherapeutic agent or irradiation, and increase the risk of acute or chronic Graft-Versus-Host Disease (GVHD) and following tumors such as oral squamous cell carcinoma [11][12][13].…”

Section: Discussionmentioning

confidence: 99%

Allogeneic Hematopoietic Stem Cell Transplantation in Fanconi Anemia

Dumache¹,

Timisoara²,

Lascu³

et al. 2021

annhematoloncol

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Objective: Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) is the treatment of choice in patients with Fanconi Anemia (FA). The aim of our study is to evaluate the impact and benefits of allogenic matched donor HSCT in a case of a 12 year-old girl with FA, who displayed good clinical evolution following 2 months post-transplantation. Patients and Methods: In the pre-transplant phase, reference blood samples from the donor and recipient were collected on EDTA. The DNA from blood samples was extracted using an automated Maxwell® 48 RSC instrument (Promega, USA) with the Maxwell® RSC Whole blood DNA kit (Promega, USA). For DNA quantification, the PowerQuant System kit (Promega, USA) was used with the ABI 7500 Real-time PCR system (Applied Biosystems, USA). The amplification of the short tandem repeat markers was performed using the 24plex Investigator QS kit (Qiagen, Germany) on a ProFlex PCR System. Furthermore, the PCR products were separated and detected on an ABI 3500 Genetic Analyzer (Applied Biosytems, USA). Results: After 30 days of the transplantation, a Complete Chimerism (CC) was achieved with a full replacement by donor derived hematopoietic cells. After 60 days of the transplantation, the CC status was maintained with improvement of hematological findings. Conclusion: In FA, chimerism monitoring after HSCT provides useful informations of engraftment or possibility of post-transplantation complications such as graft versus host disease.

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Section: Discussionmentioning

confidence: 99%

Allogeneic Hematopoietic Stem Cell Transplantation in Fanconi Anemia

Dumache¹,

Timisoara²,

Lascu³

et al. 2021

annhematoloncol

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“…Genetic tests using target and whole exome sequencing have recently become available for the definitive diagnosis of IBMFS. In parallel, evaluation for the indications for hematopoietic cell transplantation (HCT) and preparation for HCT, including human leukocyte antigen (HLA) testing and donor search, are necessary and/or antithymocyte globulin (ATG) [12][13][14][15][16]. In a study including 795 patients with FA, the European Society for Blood and Marrow Transplantation (EBMT) demonstrated that age < 10 years at the time HCT, transplantation before clonal evolution, transplantation from a matched related donor (MRD), and fludarabine-based RIC were associated with favorable outcomes [13].…”

Section: Current Status and Future Perspectives Of Allogeneic Hematop...mentioning

confidence: 99%

“…In a study including 795 patients with FA, the European Society for Blood and Marrow Transplantation (EBMT) demonstrated that age < 10 years at the time HCT, transplantation before clonal evolution, transplantation from a matched related donor (MRD), and fludarabine-based RIC were associated with favorable outcomes [13]. Although unaffected MRDs are preferred, bone marrow transplantation (BMT) from a matched unrelated donor (MUD) following fludarabinebased RIC is a good alternative with an overall survival (OS) rate of 60-80% (Table 1) [14][15][16]. MacMillan et al reported that patients without a history of opportunistic infections or frequent transfusions who underwent HCT from an MUD following fludarabine-based RIC with ATG had an excellent 5-year OS of 94% [14].…”

Section: Current Status and Future Perspectives Of Allogeneic Hematop...mentioning

confidence: 99%

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

Sakaguchi

Yoshida²

2022

Int J Hematol

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Inherited bone marrow failure syndromes (IBMFSs) are a group of rare genetic disorders characterized by bone marrow failure with unique phenotypes and predisposition to cancer. Classical IBMFSs primarily include Fanconi anemia with impaired DNA damage repair, dyskeratosis congenita with telomere maintenance dysfunction, and Diamond-Blackfan anemia with aberrant ribosomal protein biosynthesis. Recently, comprehensive genetic analyses have been implemented for the definitive diagnosis of classic IBMFSs, and advances in molecular genetics have led to the identification of novel disorders such as AMeD and MIRAGE syndromes. Allogeneic hematopoietic cell transplantation (HCT), a promising option to overcome impaired hematopoiesis in patients with IBMFSs, does not correct nonhematological defects and may enhance the risk of secondary malignancies. Disease-specific management is necessary because IBMFSs differ in underlying defects and are associated with varying degrees of risk for clonal evolution and early or late complications after HCT. In addition, long-term follow-up is essential to detect complications related to the IBMFS or HCT. This review provides a summary of current clinical practices along with the latest data on HCT in IBMFSs.

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“…Not all FA patients present all clinical alterations, and malformations may not be present, so that diagnosis is reached at a later age when bone marrow failure or solid cancer in young subjects usually develops,[ 14 ] based on the search for chromosomal breakages induced by diepoxybutane (DEB) or mitomycin C.[ 15 16 ] Allogeneic hematopoietic stem cell transplantation (HSCT) is curative for bone marrow failure in patients with FA, but the cancer development, including oral cancer, is associated with a poor prognosis and the management of these patients is still challenging. [ 17 18 19 ]…”

Section: Introductionmentioning

confidence: 99%

Management of oral leukoplakia in patients with Fanconi anemia

Pippi

Gioia

Rocca

et al. 2022

J Oral Maxillofac Pathol

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Fanconi anemia (FA) is a rare genetic disease involving an increased risk of developing acute myeloid leukemia and solid tumors, especially head-and-neck squamous cell carcinomas, for which the oral cavity is the most frequent site of occurrence. The patient presented in this study underwent allogeneic hematopoietic stem cell transplantation (HSCT) and developed nonhomogeneous oral leukoplakia after 7 years, which was promptly removed and diagnosed with high-grade epithelial dysplasia. Many risk conditions for oral squamous cell carcinoma were featured in the present case including FA, allogeneic HSCT, graft-versus-host disease, immunosuppressive therapy, female gender, nonsmoker, tongue location and nonhomogeneous type of leukoplakia. Close follow-up of the entire upper aerodigestive tract mucosa and early removal of all suspected lesions are highly recommended in the management of such patients.

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Long-term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis

Cited by 18 publications

References 28 publications

Allogeneic Hematopoietic Stem Cell Transplantation in Fanconi Anemia

Allogeneic Hematopoietic Stem Cell Transplantation in Fanconi Anemia

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

Management of oral leukoplakia in patients with Fanconi anemia

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