A Retrospective Review of Referral Rates for Genetic Screening of AYA Patients Diagnosed with Myeloid Malignancies and Aplastic Anemia

Genetic abnormalities can predispose patients to develop acute myeloid leukemia (AML), aplastic anemia (AA) and myelodysplastic syndrome (MDS). These mutations are more often seen in pediatric patients so genetic screening is more routinely performed in that population. Recent algorithms propose screening in adolescent and young adults (AYAs) with AML/AA/MDS. However, this is not routine practice in community hospitals where most AYAs are treated. Discovery of familial genetic abnormalities can impact donor choice in patients undergoing allogeneic stem cell transplant and treatment/screening in family members.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Tags: 145 Source Type: research

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Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by bone marrow failure (BMF; cytopenia or aplastic anemia), exocrine pancreatic insufficiency, and skeletal abnormalities, with a predisposition to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) [1]. Although most individuals with SDS have some hematologic manifestations of their disease, the majority do not require transplantation. However, hematopoietic stem cell transplantation (HSCT) remains the sole curative therapy for 19% to 36% of patients with SDS who develop BMF or transformation to myeloid malignancy.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by bone marrow failure (BMF; cytopenia or aplastic anemia), exocrine pancreatic insufficiency, and skeletal abnormalities, with a predisposition to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) [1]. Although most individuals with SDS have some hematologic manifestations of their disease, the majority do not require transplantation. However, hematopoietic stem cell transplantation (HSCT) remains the sole curative therapy for 19% to 36% of patients with SDS who develop BMF or transformation to myeloid malignancy.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Tags: Pediatric Source Type: research
Allogeneic HLA-matched unrelated donor (MUD) hematopoietic stem cell transplantation (HSCT) for adults with acquired severe aplastic anemia (SAA) is currently recommended after failure to respond to a course of immunosuppressive therapy (IST) 1,2. This guidance reflects the historical developments in HSCT and IST, and the improving outcomes of MUD HSCT over time. Although SAA patients are surviving long term after both HSCT and IST, the long-term complications of clonal transformation to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) and hemolytic PNH after IST in up to 15-26% of patients at 10 years are notable 3-7.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Allogeneic HLA-matched unrelated donor (MUD) hematopoietic stem cell transplantation (HSCT) for adults with acquired severe aplastic anemia (SAA) is currently recommended after failure to respond to a course of immunosuppressive therapy (IST) [1,2]. This guidance reflects the historical developments in HSCT and IST, as well as the improving outcomes of MUD HSCT over time. Although patients with SAA are surviving long term after both HSCT and IST, the long-term complications of clonal transformation to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) and hemolytic paroxysmal nocturnal hemoglobinuria (PNH)...
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
This study may open up new potential therapeutic avenues for the treatment of patients with chronic infection, inflammatory diseases, and cancer.DisclosuresNo relevant conflicts of interest to declare.
Source: Blood - Category: Hematology Authors: Tags: 506. Hematopoiesis and Stem Cells: Microenvironment, Cell Adhesion, and Stromal Stem Cells Source Type: research
Conclusions. ISV is widely used in hematological pts with IFI also in diseases other than acute myeloid leukemia and it is overall well tolerated. ORR to ISV is at least comparable with other antifungal agents. A rec/ref underlying hematological disease impacts both on OS and response to ISV, while having an IFI refractory to other antifungal agents including azoles does not seem to compromise the response to ISV, although this promising result should be confirmed in prospective studies and larger groups of patients.DisclosuresBusca: Gilead: Honoraria, Membership on an entity's Board of Directors or advisory committees, Sp...
Source: Blood - Category: Hematology Authors: Tags: 203. Lymphocytes, Lymphocyte Activation, and Immunodeficiency, including HIV and Other Infections: Poster III Source Type: research
Post-transplant lymphoproliferative disorder (PTLD) following hematopoietic stem cell transplantation (HSCT) is a rare, but life-threatening complication. PTLD typically develops within 6-12 months of HSCT, which is before the reconstitution of EBV-specific cytotoxic T-cell immunity. Several risk factors for developing PTLD have been reported in the literature, including the use of antithymocyte globulin (ATG) and ex vivo T-cell depletion (TCD). However, only a few large-scale retrospective studies have been conducted and risk scores have not yet been well defined. Therefore, to further evaluate the probability of and risk...
Source: Blood - Category: Hematology Authors: Tags: 723. Clinical Allogeneic and Autologous Transplantation: Late Complications and Approaches to Disease Recurrence: HSCT Late Effects and Disease Monitoring Source Type: research
Pediatric myelodysplastic syndromes (MDSs) are a heterogeneous group of clonal disorders with an annual incidence of 1 to 4 cases per million, accounting for less than 5% of childhood hematologic malignancies. MDSs in children often occur in the context of inherited bone marrow failure syndromes, which represent a peculiarity of myelodysplasia diagnosed in pediatric patients. Moreover, germ line syndromes predisposing individuals to develop MDS or acute myeloid leukemia have recently been identified, such as those caused by mutations in GATA2, ETV6, SRP72, and SAMD9/SAMD9-L. Refractory cytopenia of childhood (RCC) is the m...
Source: Blood - Category: Hematology Authors: Tags: Pediatric Hematology, Transplantation, How I Treat, Free Research Articles, Myeloid Neoplasia Source Type: research
Conclusion SDF-1/CXCR4 axis plays a crucial role in engraftment; however, more studies are warranted to assess their expression post-transplant. Evaluating the ligand (chemokine, SDF-1) or its receptor (CXCR4) may serve as potential surrogate markers for assessment of engraftment.
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
Authors: Shimamura A Abstract Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germ line and somatic mutations for diagnosing and monitoring patients with BMF. Most ...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
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