Abstract
Germline biallelic mismatch repair deficiency (bMMRD) results in a unique cancer predisposition syndrome in which the affected children are susceptible to the development of malignancies, especially brain, gastrointestinal, and lymphoid cancers. Acute myeloblastic leukemia is rarely reported in this syndrome. Here we report the decision-making challenges in a bMMRD child with acute myeloblastic leukemia. Our experience should alert physicians to include bMMRD in the differential diagnosis of a child with hyper/hypopigmented spots and leukemia. Furthermore, the presence of the above and consanguinity emphasizes the need to rule out bMMRD when an allogeneic bone marrow transplant is considered and to enable the surveillance of other family members for earlier detection of cancers in these children.
MeSH terms
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Allografts / virology
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
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Brain Neoplasms / diagnosis
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Brain Neoplasms / genetics*
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Cafe-au-Lait Spots / diagnosis
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Cafe-au-Lait Spots / genetics
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Child, Preschool
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Colorectal Neoplasms / diagnosis
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Colorectal Neoplasms / genetics*
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Combined Modality Therapy
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Cord Blood Stem Cell Transplantation* / adverse effects
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DNA-Binding Proteins / genetics*
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Diagnosis, Differential
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Fatal Outcome
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Female
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Germ-Line Mutation
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Humans
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Leukemia, Myeloid, Acute / genetics
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Leukemia, Myeloid, Acute / therapy*
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Lymphoma, Large B-Cell, Diffuse / drug therapy
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Lymphoma, Large B-Cell, Diffuse / etiology
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Lymphoma, Large B-Cell, Diffuse / virology
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Male
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Neoplastic Syndromes, Hereditary / diagnosis
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Neoplastic Syndromes, Hereditary / genetics*
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Nuclear Proteins / genetics*
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Nucleophosmin
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Recurrence
Substances
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DNA-Binding Proteins
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G-T mismatch-binding protein
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Nuclear Proteins
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Nucleophosmin