Severe vitamin B deficiency is well known to cause morphological alterations in bone marrow. In rare instances, these myelodysplastic and megaloblastic changes can coexist with cytogenetic abnormalities. Here, we report a case of a 38-year-old African-American woman with pernicious anaemia, who was found to have an isolated 20q deletion and which resolved after vitamin B replacement. We also discuss various mechanisms in which vitamin B deficiency can lead to chromosomal abnormalities. A literature review is also performed to evaluate various other chromosomal aberrations associated with B deficiency.
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http://dx.doi.org/10.1136/bcr-2016-218689 | DOI Listing |
Case Rep Hematol
March 2024
Department of Pathology, Anatomy and Laboratory Medicine, West Virginia University, Morgantown, WV 26506, USA.
Evidence suggests that the earliest genetic events in the evolution of a cancer can predate diagnosis by several years or decades. In chronic myeloid leukemia (CML), the BCR::ABL1 fusion driver mutation can be present for an extended period before clinical disease manifests. The time between the BCR::ABL1 occurrence and symptom onset is referred to as the latency period.
View Article and Find Full Text PDFCurr Res Transl Med
December 2023
Drug Resistance in Hematological Malignancies, Centre de Recherche des Cordeliers, UMRS 1138, INSERM, Sorbonne Université, Université Paris Cité, Paris, France; Service d'Hématologie Biologique, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.
Acquired clonal chromosomal abnormalities (CAs) are usually considered to be disease-related. However, when a CA of this type is the only abnormality present (and especially in small clones), the clinical significance is unclear. Here, we review the literature on recurrent CAs whose significance is regularly subject to debate.
View Article and Find Full Text PDFLeuk Res Rep
August 2023
Clinical Cytogenomics Lab, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA.
We describe genomic findings in an AML case with isochromosome 7p, i(7)(p10), in which SNP array analysis uncovered an additional 7.07-Mb 20q deletion not detected by karyotyping. Several AML cases with i(7)(p10) as an isolated cytogenetic finding have been previously reported.
View Article and Find Full Text PDFCancer Med
August 2023
Servicio de Hematología, Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA, Valencia, Spain.
Background: In myelodysplastic neoplasms (MDS), the 20q deletion [del(20q)] is a recurrent chromosomal abnormality that it has a high co-occurrence with U2AF1 mutations. Nevertheless, the prognostic impact of U2AF1 in these MDS patients is uncertain and the possible clinical and/or prognostic differences between the mutation type and the mutational burden are also unknown.
Methods: Our study analyzes different molecular variables in 100 MDS patients with isolated del(20q).
Am J Hematol
May 2023
Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
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