Hematopoetic stem cell transplant

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) type 2, caused by MDS1 and EVI1 complex locus (MECOM) gene mutations, is a rare inherited bone marrow failure syndrome (IBMFS) with skeletal anomalies, characterized by varying presentation of congenital thrombocytopenia (progressing to pancytopenia), bilateral proximal radioulnar synostosis, and other skeletal abnormalities. Due to limited knowledge and heterogenous manifestations, clinical diagnosis of the disease is challenging. Here we reported a novel MECOM mutation in a Chinese boy with typical clinical features for RUSAT-2...

Solid organ transplantation from the same donor is an established procedure for end-stage organ failure that developed after a previous hematopoietic stem cell transplantation (HSCT); however, it is rarely done in patients transplanted with unmanipulated haplo-HSCT. There are no pediatric reports regarding the long-term performance of organ transplantation after haplo-HSCT with post-transplant cyclophosphamide (PTCY). A juvenile myelomonocytic leukemia patient, who underwent unmanipulated haplo-HSCT with PTCY from her mother at the age of 3 years, developed chronic liver graft versus host disease (GvHD) which was refractory to specific GvHD treatment...

Although graft-versus-host disease (GVHD) is a common immunologic reaction after an allogeneic hematopoietic stem cell transplant (HSCT), progression into sclerodermatous GVHD is a rare sequela. It can present locally or generalized with various cutaneous and mucocutaneous manifestations, resulting in loss of skin elasticity and reduced functional capabilities. One of the most debilitating consequences of sclerodermatous GVHD is its effect on a range of motion due to fibrosis of the skin and subcutaneous fat...

Primary hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening hyperinflammatory syndrome that develops mainly in patients with genetic disorders of lymphocyte cytotoxicity and X-linked lymphoproliferative syndromes. Previous studies with etoposide-based treatment followed by hematopoetic stem cell transplantation (HSCT) resulted in 50-59% 5-year survival. Contemporary data are lacking. We evaluated 88 pHLH patients documented in the international HLH Registry between 2016-2021 with follow-up until 6/2023...

OBJECTIVE: Allogeneic stem cell transplantation (allo-SCT) may have a curative potential due to the graft versus lymphoma effect. In this study, we aimed to compare transplant outcomes between refractory-T-NHL (ref-NHL) and Chemosensitive-T-NHL (CS-T-NHL). MATERIALS AND METHODS: We retrospectively reviewed the records of 26 ref-NHL and 29 CS-T-NHL consecutive patients who underwent allo-SCT at our center and compared the transplant outcomes between the groups. RESULTS: All patients were heavily pretreated with 27% of patients relapsing post-auto-SCT and two patients in the ref-T-NHL post-allo-SCT...

Hematopoetic Stem Cell Transplantation is a life saving procedure which requires mobilization of stem cells for apheresis procedure. In this review we aimed to examine mobilizing agents that are in use and under investigation. Apheresis practitioners who oversee stem cell collections should be familiar with the recent advances in mobilization agents to utilize most up-to-date information for better patient outcomes.

BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodeficiency. The phenotype is profound T cell deficiency with variable B and NK cell functions and results in recurrent and persistent infections that typically begin in the first year of life. Neurologic findings occur in approximately two-thirds of patients. The mechanism of neurologic abnormalities is unclear. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for PNP deficiency...

Acute myeloid leukemia (AML) presents several oral manifestations, including gingival hyperplasia, pale mucosa, poor wound healing, petechiae, ecchymoses, candidiasis, recurrent herpes infection, and ulcerations in the oral mucosa. Chemotherapy is the first-line treatment of AML. Common dental complications of chemotherapy include mucositis, infections secondary to profound bone marrow aplasia, and gingival bleeding. When treating patients with AML, preparing a comprehensive treatment plan is essential to help minimize their risks for developing these oral complications...

Busulfan is an alkylating drug routinely used in conditioning regimens for allogeneic hematopoietic cell transplantation (allo-HCT). A myeloablative conditioning regimen, including busulfan, is commonly used in patients undergoing T-cell depletion (TCD) and allo-HCT, but data on optimal busulfan pharmacokinetic (PK) exposure in this setting are limited. Between 2012 and 2019, busulfan PK was performed to target an area under the curve exposure between 55 and 66 mg × h/L over 3 days using a noncompartmental analysis model...

BACKGROUND: Autologous Hematopoietic Stem Cell Transplantation with or without CD34+ selection is being used successfully to treat patients with severe and refractory autoimmune disease. This study describes our experience of CD34+ stem cell mobilization, harvesting and selection in autoimmune patients based on conditions in Vietnam - the developing country. METHODS: Eight autoimmune patients (four patients with Myasthenia Gravis and four patients with Systemic Lupus Erythematosus) underwent PBSC mobilization with granulocyte colony-stimulating factor (G-CSF) and cyclophosphamide...

CSF1 receptor-related leukoencephalopathy is a rare genetic disorder presenting with severe, adult-onset white matter dementia as one of the leading symptoms. Within the central nervous system, the affected CSF1-receptor is expressed exclusively in microglia cells. Growing evidence implicates that replacing the defective microglia with healthy donor cells through hematopoietic stem cell transplant might halt disease progression. Early initiation of that treatment is crucial to limit persistent disability. However, which patients are suitable for this treatment is not clear, and imaging biomarkers that specifically depict lasting structural damage are lacking...

It is important to calculate the CD34+ stem cell (SC) count at the right time in patients with hematological malignancies who will undergo Hematopoietic Stem Cell Transplantation (HSCT). The amount of SC infused into the patient affects the engraftment time and healing process of the patient. In this study, we aimed to compare which of the DMSO-not removed and DMSO-removed samples showed the CD34 + SC amount more accurately as the SC amount determination method after the SC was dissolved after cryopreservation in patients who will undergo HSCT...

Eligibility and indication for autologous hematopoietic stem cell transplantation (HSCT) in patients with lymphoma are increasing. Acute kidney injury (AKI) is a known complication of HSCT with studies including a miscellaneous of hematological diagnoses and using different definitions of AKI. We aimed to evaluate incidence, risk factors and prognostic impact of AKI post-HSCT in patients with lymphoma submitted to autologous HSCT using the KDIGO classification with both serum creatinine and urinary output criteria...

Although there are many studies on the role of vitamin D deficiency (VDD) in hematopoetic stem cell transplantation (HSCT), outcomes have often reported conflicting results because of the heterogeneity of the patients in the studies. We investigated the association between VDD prior to HSCT and outcomes after HSCT in a relatively homogenous group of patients with thalassemia major (TM) who received identical treatment for TM before transplantation, and the same conditioning regimen and GVHD prophylaxis during and after transplantation...

BACKGROUND: Desiccating-stress (DS) is known to induce dry-eye disease but has not been studied in the context of ocular graft-versus-host disease (oGVHD). Patients undergoing allogeneic hematopoietic stem cell transplantation (aHSCT) are exposed to DS on transplantation wards, which are highly climate regulated for hygienic purposes. OBJECTIVE: As oGVHD demonstrates features of dry-eye disease this retrospective study aimed to analyze DS as a risk factor for chronic oGVHD...

BACKGROUND: Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative option for children with both malignant and nonmalignant diseases. T-cell depletion techniques may result in reduced transplant-related mortality compared with unmanipulated grafts due to a lower incidence of GvHD. METHODS: Immune recovery and outcome were analyzed in a cohort of 23 patients with malignant and nonmalignant diseases who received CD3+TCRαβ+ T- and B-cell-depleted allografts from matched donors after reduced-intensity or myeloablative conditioning...

After allogeneic hematopoietic stem cell transplantation (allo-HSCT), the recurrence of recent thymic emigrants (RTE) and self-tolerant T cells indicate normalized thymic function. From 2008 to 2019, we retrospectively analyzed the RTE-reconstitution rate and the minimal time to reach normal age-specific first percentiles for CD31+ CD45RA+ CD4+ T cells in 199 pediatric patients after allo-HSCT for various malignant and non-malignant diseases. The impact of clinically significant graft-versus-host disease (GvHD), age at transplantation, underlying disease and cumulative area under the curve of busulfan on RTE-reemergence was assessed in multivariable longitudinal analysis...

Hepatic veno-occlusive disease (VOD), also termed sinusoidal obstruction syndrome (SOS), is a rare and life threatening complication of hematopoetic stem cell transplantation (HSCT). Many conditions can mimic the clinical signs of VOD/SOS. Differential diagnosis and diagnosis of the disease at an early stage is important, since the severe form of the disease has higher mortality rates and early-initiated specific treatment has better response rates. A sensitive and specific non-invasive imaging technique that can diagnose the disease at an early stage is still an unmet need today...

CLINICAL ISSUE: Multiple myeloma (MM) is a malignancy of hematopoetic system and is associated with destruction of bone, suppressed bone marrow function and renal failure. It is characterized by strong proliferation of malignant plasma cells. STANDARD TREATMENT: Classic therapies contained an alkylating agent and a glucocorticoid. In the 1990s, treatments were supplemented with transplantation of peripheral blood stem cells. TREATMENT INNOVATIONS: During the 2000s, new therapies emerged, combining an immunomodulator (thalidomide, lenalidomide or pomalidomide), a proteasome inhibitor (bortezomib, carfilzomib or ixazomib), and a monoclonal antibody against CD38...

Graft-versus-host disease is a common complication following allogeneic hematopoetic stem cell transplantation that can affect multiple organ systems, including the eyes. Ocular GVHD (oGVHD) is characterized by a T cell-mediated immune response that leads to immune cell infiltration and inflammation of ocular structures, including the lacrimal glands, eyelids, cornea and conjunctiva. oGVHD has a significant negative impact on visual function and quality of life and successful management requires a multi-disciplinary approach with frequent monitoring...