Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.
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.
*Department of Pediatric Hemato-Oncology †The Gilbert Israeli Neurofibromatosis Center (GINFC) ‡Department of Pathology, Diagnostic and Research Cancer Center, Tel Aviv Sourasky Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel §Division of Hematology/Oncology, Institute of Medical Sciences ¶Department of Laboratory Medicine and Pathobiology, Division of Pathology, The Hospital for Sick Children, The University of Toronto ∥Zane Cohen Centre, Mount Sinai Hospital, Toronto, ON, Canada.
Ronit
R
Elhasid
Rina
R
Dvir
Hila
H
Rosenfeld Keidar
Shay
S
Ben Shachar
Menachem
M
Bitan
Irit
I
Solar
Carol
C
Durno
Melyssa
M
Aronson
David
D
Malkin
Cynthia
C
Hawkins
Eric
E
Bouffet
Uri
U
Tabori
D064591:Allografts / Q000821:virology; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics*; D019080:Cafe-au-Lait Spots / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D003131:Combined Modality Therapy; D036101:Cord Blood Stem Cell Transplantation / Q000009:adverse effects; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics / Q000628:therapy*; D016403:Lymphoma, Large B-Cell, Diffuse / Q000188:drug therapy / Q000209:etiology / Q000821:virology; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D012008:Recurrence
D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; D009687:Nuclear Proteins; D000090243:Nucleophosmin