Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency
Autor: | Cynthia Hawkins, Eric Bouffet, Uri Tabori, Hila Rosenfeld Keidar, Rina Dvir, Melyssa Aronson, Menachem Bitan, Carol Durno, Shay Ben Shachar, David Malkin, Ronit Elhasid, Irit Solar |
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Rok vydání: | 2015 |
Předmět: |
Male
Oncology medicine.medical_specialty Myeloid Acute myeloblastic leukemia Consanguinity Germline Diagnosis Differential Fatal Outcome Germline mutation Neoplastic Syndromes Hereditary Recurrence Internal medicine Antineoplastic Combined Chemotherapy Protocols medicine Humans Germ-Line Mutation Brain Neoplasms business.industry Cafe-au-Lait Spots Nuclear Proteins Hematology Allografts medicine.disease Combined Modality Therapy Lymphoma DNA-Binding Proteins Leukemia Myeloid Acute Leukemia medicine.anatomical_structure Child Preschool Pediatrics Perinatology and Child Health Female Cord Blood Stem Cell Transplantation Lymphoma Large B-Cell Diffuse Differential diagnosis Colorectal Neoplasms business Nucleophosmin |
Zdroj: | Journal of Pediatric Hematology/Oncology. 37:e490-e493 |
ISSN: | 1077-4114 |
DOI: | 10.1097/mph.0000000000000415 |
Popis: | 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. |
Databáze: | OpenAIRE |
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