A Filipino infant with severe neutropenia owing to SRP54 mutations was successfully treated with ethnically mismatched cord blood transplantation from a Japanese cord blood bank

Tamura, Takeaki; Yagasaki, Hiroshi; Nakahara, Erina; Ito, Masataka; Ueno, Masaru; Kono, Koji; Hirai, Maiko; Morioka, Ichiro

doi:10.1007/s00277-021-04518-8

Cited by 6 publications

(8 citation statements)

References 6 publications

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“…Therefore, we adopted the 2-step regimen in this patient, which was successful in obtaining durable engraftment in an infant with other inherited granulocytopenia. 17 A recent retrospective study suggests that patients with SAMD9L mutations can develop cerebellar ataxia later in life; thus, the incidence of ataxia in patients with SAMD9L disease is currently unknown and may be considerably higher than anticipated. 18 In this patient, long-term follow-up will be necessary to observe any neurological signs that may arise.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, we need to avoid total body irradiation and BU, which could affect the central nervous system. Therefore, we adopted the 2-step regimen in this patient, which was successful in obtaining durable engraftment in an infant with other inherited granulocytopenia 17. A recent retrospective study suggests that patients with SAMD9L mutations can develop cerebellar ataxia later in life; thus, the incidence of ataxia in patients with SAMD9L disease is currently unknown and may be considerably higher than anticipated 18.…”

Section: Discussionmentioning

confidence: 99%

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Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9/SAMD9L Germline Mutation

Hirai

Yagasaki

Kono

et al. 2022

Journal of Pediatric Hematology/Oncology

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Recently, germline mutations in SAMD9 and SAMD9L were increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9L variant, who presented with anemia and thrombocytopenia (patient 1), and neutropenia and nonsymptomatic white-matter-encephalopathy (patient 2). Both patients received cord blood transplantation and experienced critical post–cord blood transplantation adverse events; patients 1 and 2 developed fulminant engraftment syndrome and life-threatening graft-versus-host disease, respectively. Of note, selective loss of chromosome 7 in bone marrow–derived CD34+ cells was inferred.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9/SAMD9L Germline Mutation

Hirai

Yagasaki

Kono

et al. 2022

Journal of Pediatric Hematology/Oncology

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“…Recently, SRP54 pathogenic variants have been associated with SCN and SDS‐like disease, with phenotypes including exocrine pancreatic insufficiency, neurodevelopmental delay, and skeletal dysplasia (Bellanne‐Chantelot et al, 2018; Carapito et al, 2017; Carden et al, 2018; Erdos et al, 2022; Goldberg et al, 2020; Manabe et al, 2022; McCarthy et al, 2022; Saettini et al, 2020; Tamura et al, 2021). SRP54 is a 54‐kDa signal recognition particle GTPase protein.…”

Section: Introductionmentioning

confidence: 99%

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance

Fan

Vagher

Meznarich

et al. 2023

American J of Med Genetics Pt A

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Severe congenital neutropenia (SCN) is a rare disorder, often due to pathogenic variants in genes such as ELANE, HAX1, and SBDS. SRP54 pathogenic variants are associated with SCN and Shwachman‐Diamond‐like syndrome. Thirty‐eight patients with SRP54‐related SCN are reported in the literature. We present an infant with SCN, without classic Shwachman‐Diamond syndrome features, who presented with recurrent bacterial infections and an SRP54 (c.349_351del) pathogenic variant. Despite ongoing granulocyte colony‐stimulating factor therapy, this patient has no evidence of malignant transformation. Here we establish a framework for the future development of universal guidelines to care for this patient population.

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“…SRP54‐ mutated CN can result in lethal infections and patients rely on exogenous granulocyte colony stimulating factor (G‐CSF) to limit infections. At least six patients with SRP54 mutations have undergone hematopoietic cell transplant (HCT) [ 1 , 3 , 4 , 5 ]. None of these patients was transplanted for a hematologic malignancy and there have been no published reports of hematologic malignancies in patients with SRP54 mutations.…”

Section: Introductionmentioning

confidence: 99%

Acute myeloid leukemia in SRP54‐mutated congenital neutropenia

Sabulski

Grier

Myers

et al. 2022

eJHaem

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SRP54 mutations have recently been implicated in congenital neutropenia (CN) and the in‐frame deletion, p.Thr117del, is the most common pathogenic mutation reported. The largest study of SRP54‐mutated CN to‐date followed 23 patients for a median of 15 years. No patients developed a hematologic malignancy in that study. Given the known risk of leukemia in other CNs it is crucial to know whether patients with SRP54‐mutated CN have an increased risk of leukemia. We report the first case of leukemia in a patient with SRP54‐mutated CN. A 15‐year‐old male with SRP54‐mutated CN (p.Thr117del) was diagnosed with acute myeloid leukemia with myelodysplasia‐related changes on a screening bone marrow evaluation. Next generation sequencing of the leukemia cells identified CSF3R and RUNX1 mutations. These mutations commonly co‐exist in CN‐associated malignancies and suggest leukemogenesis in SRP54‐mutated CN may occur in a similar manner to other CNs. He was successfully treated with CPX‐351 followed by hematopoietic cell transplant (HCT) and remains in remission at a follow‐up time of 9 months. Although conclusions from this single report must be limited, this has potentially significant implications for both screening and treatment practices for these patients, including the role and timing of HCT.

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A Filipino infant with severe neutropenia owing to SRP54 mutations was successfully treated with ethnically mismatched cord blood transplantation from a Japanese cord blood bank

Cited by 6 publications

References 6 publications

Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9/SAMD9L Germline Mutation

Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9/SAMD9L Germline Mutation

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance

Acute myeloid leukemia in SRP54‐mutated congenital neutropenia

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