Fanconi Anemia patient with AML1 gene amplification and monosomy 7 in pre-transplant myelodysplasia (MDS) relapsing 7 years after successful allo-SCT

Ayas, Mouhab; Walter, Claudia

doi:10.1038/bmt.2008.204

Cited by 3 publications

(1 citation statement)

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“…Ayas and Walter 26 described a case of FA with a complex karyotype in which dup(21)(q22)x2,+add(21)(q22) was observed. In this duplicated region, the AML1 gene (RUNX1) is present, which is correlated with myeloid neoplasms, suggesting an important role of this gene in characterizing disease progression.…”

Section: Discussionmentioning

confidence: 99%

Clinical and cytogenetic profile of Fanconi anemia diagnosed after implementation of mitomycin C cytogenetic test in the state of Pernambuco, Brazil

Borges

Souza

Rodrigues

et al. 2024

Hematology, Transfusion and Cell Therapy

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Section: Discussionmentioning

confidence: 99%

Clinical and cytogenetic profile of Fanconi anemia diagnosed after implementation of mitomycin C cytogenetic test in the state of Pernambuco, Brazil

Borges

Souza

Rodrigues

et al. 2024

Hematology, Transfusion and Cell Therapy

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The Myelodysplastic Syndrome

Silverman

2017

Holland‐Frei Cancer Medicine

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Overview The existence of a hematopoietic disorder characterized by anemia and dyspoiesis preceding the onset of acute myelocytic leukemia (AML) has been recognized since the early part of the twentieth century. Initially designated as preleukemia, the syndrome was ill defined and could only be established with certainty retrospectively. Moreover, the terminology itself conveyed an unwarranted confidence in predicting the outcome that often belied the facts. The more accurately descriptive and appropriate designation as a myelodysplastic syndrome (MDS) was adopted in 1976 by the French–American–British (FAB) study group. The FAB classification permitted the prospective identification of patients within this heterogeneous clonal disorder. MDS, derived from a multipotent hematopoietic stem cell, is characterized clinically by a hyperproliferative bone marrow, reflective of ineffective hematopoiesis, and is accompanied by one or more peripheral blood cytopenias. Bone marrow failure results, leading to death from bleeding and infection in the majority, while transformation to acute leukemia occurs in up to 40% of patients. The evolution of the disease proceeds in accordance with the multistep pathogenesis theory of carcinogenesis and can thus serve as an important model in furthering our understanding of the processes involved in neoplastic transformation. This constellation of findings raises the question of whether MDS represents a frank neoplastic state or is merely a preneoplastic condition in transition. The syndrome appears to represent a spectrum where the initial lesion in the genome, though clinically undetectable, subsequently evolves, with the acquisition of additional genetic and epigenetic lesions, to a state of frank neoplasia. The designation of this disorder as an MDS, rather than preleukemia, permits its distinction from other abnormalities that are known to be associated with the development of acute leukemia. These latter include the classic myeloproliferative syndromes (polycythemia vera, chronic myelocytic leukemia, agnogenic myeloid metaplasia, essential thrombocythemia), aplastic anemia, paroxysmal nocturnal hemoglobinuria (PNH), as well as Fanconi, Bloom, and Down syndromes. These particular “preleukemic states” are beyond the scope of this chapter. MDS can be further divided into primary and secondary syndromes. The former arise de novo and are of indeterminate etiology, while the latter are induced by identifiable environmental, occupational, or iatrogenic causes. Estimates of the incidence of MDS range from a frequency equal to that of AML or approximately 14,000 new cases per year in the United States to almost twice that of AML. The SEER database now tracks the disease; thus more accurate data will be available in the future. An estimate based on medical insurance claims indicated a total of 107,000 cases in the observation period from 2009 through 2011. The consensus is that the incidence is increasing owing to a number of factors, including greater awareness, greater diagnostic precision, and the aging of the population.

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Myelodysplastic Syndromes

Borate¹

2022

Holland‐Frei Cancer Medicine

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Overview Primary, secondary, and familial myelodysplastic syndromes (MDS) became a reportable group of malignancies in 2001. Over the past 20 years, there have been tremendous strides in genetic and translational research, which has influenced the pathological diagnosis and classification, risk stratification scoring systems, and genomic characterization of MDS. In certain cases, this has led to more personalized therapy options such as Luspatercept in RARS patients with SF3B1 mutations. In this chapter, we discuss the history behind the various MDS prognostic risk stratification and classifications. We also examine our current understanding of MDS pathophysiology, the complexities with establishing an MDS diagnosis including the evolving diagnostic criteria, and the use of next‐generation sequencing analyses. Then, we outline both the standard of care therapeutic options including hypomethylating agents, and their impact over the past decade, as well as multiple clinical trials and treatment options being investigated for MDS patients. Finally, we discuss what personalized treatments and possible preventative strategies we may expect to see – in the next decade – for MDS development in high‐risk patient populations.

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Fanconi Anemia patient with AML1 gene amplification and monosomy 7 in pre-transplant myelodysplasia (MDS) relapsing 7 years after successful allo-SCT

Cited by 3 publications

References 10 publications

Clinical and cytogenetic profile of Fanconi anemia diagnosed after implementation of mitomycin C cytogenetic test in the state of Pernambuco, Brazil

Clinical and cytogenetic profile of Fanconi anemia diagnosed after implementation of mitomycin C cytogenetic test in the state of Pernambuco, Brazil

The Myelodysplastic Syndrome

Myelodysplastic Syndromes

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