ABSTRACT
Myeloid malignancies can be either primary or secondary, whether or not a specific cause can be determined. Fanconi anemia (FA), a rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution of FA may include aplastic anemia by the progressive failure of the bone marrow and myelod neoplasias, such as acute myeloid leukemia and myelodysplastic syndrome. Chromosome abnormalities, particularly of chromosomes, 1, 3, and 7, during the aplastic phase of the disease are predictive of evolution to acute myeloid leukemia/myelodysplastic syndrome. Cytogenetic studies are indispensable to characterize chromosome abnormalities, and thus an important part of the clinical management, and for planning of therapeutic interventions. Here, clinical data and outcomes of 4 FA, 3 of them with myeloid malignances and 1 asymptomatic, and detailed characterization of their chromosome abnormalities using cytogenetics techniques are described.
Subject(s)
Abnormal Karyotype , Fanconi Anemia/genetics , Leukemia, Myeloid, Acute/genetics , Myelodysplastic Syndromes/genetics , Adolescent , Asymptomatic Diseases , Cell Transformation, Neoplastic , Child , Child, Preschool , Chromosomal Instability/genetics , Chromosomes, Human/ultrastructure , Clone Cells/pathology , Dengue/complications , Fanconi Anemia/complications , Fatal Outcome , Female , Genetic Predisposition to Disease , Humans , Karyotyping , Leukemia, Myeloid, Acute/etiology , Male , Myelodysplastic Syndromes/etiology , Neoplastic Stem Cells/pathologySubject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 8 , Leukemia, Myeloid, Acute/chemically induced , Leukemia, Myeloid, Acute/genetics , Translocation, Genetic , Adolescent , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Bone Neoplasms/drug therapy , Bone Neoplasms/genetics , Bone Neoplasms/pathology , Bone Neoplasms/surgery , Chromosome Aberrations , Chromosomes, Human, Pair 13/genetics , Chromosomes, Human, Pair 8/genetics , Cytogenetic Analysis , Humans , Karyotyping/methods , Lung Neoplasms/drug therapy , Lung Neoplasms/secondary , Lung Neoplasms/surgery , Male , Neoplasms, Second Primary/chemically induced , Neoplasms, Second Primary/genetics , Osteosarcoma/drug therapy , Osteosarcoma/genetics , Osteosarcoma/pathology , Osteosarcoma/surgeryABSTRACT
We report the case of a five-month-old black male infant who had recurrent episodes of respiratory infections and also presented anemia and enlargements of the spleen, liver and lymphnodes. Hematological analysis revealed morphological abnormalities with megaloblastic dyserythropoiesis, while fetal hemoglobin assaying showed normal levels. Conventional and molecular cytogenetic analysis revealed monosomy of chromosome 7. Despite all therapeutic efforts during allogenic bone marrow transplantation, the child died due to generalized infection. The clinical and genetic distinctions between monosomy 7 syndrome and myelodysplastic disorders in childhood are discussed.