Woman with leukemia survives risky half-matched marrow transplant


Kyla Ubbelohde, now 27, was diagnosed with acute myeloid leukemia in 2017 and relapsed soon after. Her brother flew to Iowa to donate his marrow, but he was only a 50% match, making it risky.

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Minimal residual disease has emerged as an important prognostic factor for relapse and survival in acute myeloid leukemia. Eradication of minimal residual disease may increase the number of patients with long-term survival; however, to date, strategies that specifically target minimal residual disease are limited. Consensus guidelines on minimal residual disease detection by immunophenotypic and molecular methods are an essential initial step for clinical trials evaluating minimal residual disease. Here, we review promising targets of minimal residual disease prior to allogeneic stem cell transplantation….

Source: HaematologicaCategory: Hematology Authors: Tags: Haematologica Source Type: research

Contributors : Janus S Jakobsen ; Linea G Laursen ; Mikkel B Schuster ; Sachin Pundhir ; Nicolas Rapin ; Erwin Schoof ; Ying Ge ; Kristoffer Vitting-Seerup ; Coline Gentil ; Johan Jendholm ; Peter Hokland ; Jude Fitzgibbon ; Bo T PorseSeries Type : Expression profiling by high throughput sequencing ; Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiens ; Mus musculusCEBPA is a key hematopoietic transcription factor (TF), found mutated in 5-14% of all acute myeloid leukemia (AML) cases, but the direct molecular ramifications of this driver mutation remains elusive. To investigate CEBPA-mut…

Source: GEO: Gene Expression OmnibusCategory: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Mus musculus Source Type: research

Leukemia, Published online: 30 July 2019; doi:10.1038/s41375-019-0527-4Allogeneic haemopoietic transplantation for acute myeloid leukaemia in second complete remission: a registry report by the Acute Leukaemia Working Party of the EBMT

Source: LeukemiaCategory: Hematology Authors: Source Type: research

AbstractPurpose of ReviewAwareness of the molecular landscape of AML has improved AML care over the last 5  years. This review summarizes updates regarding the diagnostic and therapeutic relevance of key mutations in AML.Recent FindingsMolecular mutations in genes including NPM1, CEBPA, FLT3, IDH1/2, TP53, RUNX1, and ASXL1 provide important prognostic and/or therapeutic information in AML, including best treatment strategies, transplant recommendations, and significance of MRD detection. Mutational analysis has led to the recognition of new entities including hereditary leukemia syndromes and clonal hematopoiesis of i…

Systemic mastocytosis (SM) is a disorder characterized by abnormal proliferation of mast cells with KIT mutations, especially in codon 816. The prognosis of patients developing acute myeloid leukemia (AML) from SM is extremely poor, and hematopoietic cell transplantation is recommended. Herein, we describe a case of an 8-year-old female diagnosed with SM developing AML. A KIT M541L variant in SM was identified in leukemic cells, normal hematopoietic cells, and buccal mucosal cells, suggesting a germline polymorphism. The patient has remained in complete remission for 39 months after completion of chemotherapy. SM developin…

In the context of precision medicine, assessment of minimal residual disease (MRD) has been used in acute myeloid leukemia (AML) to direct individual treatment programs, including allogeneic stem cell transplantation in patients at high-risk of relapse. One of the limits of this approach has been in the past the paucity of AML markers suitable for MRD assessment. Recently, the number of biomarkers has increased, due to the identification of highly specific leukemia-associated immunophenotypes by multicolor fluocytometry, and of rare mutated gene sequences by digital droplet PCR, or next-generation sequencing (NGS). In addi…

With a median age at diagnosis of 68 years, nearly half of all acute myeloid leukemia (AML) patients are aged seventy or older [1]. Fortunately, the last few years have ushered in an array of new therapeutic options for older adults with AML. Simultaneously, recent advances in the field of allogeneic hematopoietic cell transplantation (HCT), including routine access to a variety of donor types and stem cell sources and new, exciting approaches to graft-versus-host disease (GVHD) prophylaxis and treatment offer the promise of widely available, safer and more effective transplants for this same population.

BACKGROUND: Patients with GATA2 deficiency present with nontuberculous mycobacterial infections, severe viral infections (particularly refractory human papillomavirus disease), lymphedema, myelodysplastic syndrome (MDS), and acute myeloid leukemia. Patients with GATA2 deficiency who undergo allogeneic hematopoietic stem cell transplantation prior to the development of life-threatening infections or cytogenetic abnormalities may have optimal clinical outcomes.
OBJECTIVES: The aim of this article is to determine ways in which oncology nurses can identify GATA2 deficiency in patients early and optimize …

Source: Clinical Journal of Oncology NursingCategory: Nursing Authors: Tags: Clin J Oncol Nurs Source Type: research

Epithelial growth factor-like 7 (EGFL7) is a secretory protein with a well-characterized role in angiogenesis and the oncogenesis of certain solid tumors. Overexpression of EGFL7 is associated with adverse prognosis in patients with cytogenetically normal acute myeloid leukemia (CN-AML). However, whether this association persists after allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains unclear. To further clarify the prognostic role of EGFL7, seventy-one AML patients with EGFL7 expression data who underwent allo-HSCT from The Cancer Genome Atlas database were included and divided into …

Source: Cancer Biology and TherapyCategory: Cancer & Oncology Authors: Tags: Cancer Biol Ther Source Type: research

Fanconi anemia (FA) is relatively more common in the Kingdom of Saudi Arabia, due mainly to a high rate of consanguinity and interrelated marriages. It is an autosomal recessive disorder belonging to the group of chromosomal instability syndromes [1 –3]. Clinically, FA is characterized by congenital malformations, progressive marrow failure, and predisposition to acute myelogenous leukemia (AML) and solid tumors [4–7]. Hematopoietic stem cell transplantation (HCT) still represents the only modality potentially able to restore normal hematop oiesis in these patients [8–11].

Source: Biology of Blood and Marrow TransplantationCategory: Hematology Authors: Source Type: research

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