PMID- 30383631
OWN - NLM
STAT- MEDLINE
DCOM- 20181114
LR  - 20221005
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 44
DP  - 2018 Nov
TI  - Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic 
      lymphohistiocytosis: A case report.
PG  - e12762
LID - 10.1097/MD.0000000000012762 [doi]
LID - e12762
AB  - RATIONALE: The balanced translocation t(8;21;22)(q22;q22;q11.2) is not reported 
      previously, although t(8;21)(q22;q22) is seen in approximately 7% of adults and 
      most frequent abnormality in children with newly diagnosed acute myeloid leukemia 
      (AML). AML-associated hemophagocytic lymphohistiocytosis (HLH) is a rare event, 
      reported only of limited numbers. The present study reports a very rare case of 
      t(8;21;22)(q22;q22;q11.2) with AML, not reported previously, and developed HLH at 
      the same time. PATIENT CONCERNS AND DIAGNOSIS: A 15-year-old girl presented with 
      a history of bleeding gums and high fever, leukocytosis, anemia, and 
      thrombocytopenia. While waiting the result of bone marrow aspirate, the 
      HLH-associated examinations were abnormal. Bone marrow aspirate showed a 
      hypercellular marrow with 1% myeloblasts. The cytogenetic and molecular studies 
      revealed the presence of abnormal karyotype-46, XX, t(8;21;22)(q22;q22;q11.2) and 
      RUNX1-RUNX1T1 fusion gene. Genetic detections of HLH showed heterozygous genetic 
      variants in lysosomal trafficking regulator (LYST). Hence, she was diagnosed with 
      AML with t(8;21;22)(q22;q22;q11.2) and HLH. INTERVENTIONS AND OUTCOMES: All HLH 
      clinical symptoms disappeared after the 4 weeks treatment of HLH. Then the 
      patient received standard AML induction chemotherapy and the leukemia relapsed 
      after 2 cycles of high-dosed consolidation therapy. Eventually, the patient 
      received emergent paternal haploidentical hematopoietic stem cell transplantation 
      based on the complex variant translocation, leukemia replased state and HLH with 
      compound heterozygotes mutation, and achieved sustained remission with 
      RUNX1-RUNX1T1 negative for more than 1 year. LESSONS: Patients with some specific 
      recurrent cytogenetic abnormalities should be diagnosed with AML regardless of 
      the blast count, for example t(8;21). We should improve the understanding of 
      complex variant translocations. HLH-related genetic mutations were not only found 
      in primary HLH, but also in second HLH.
FAU - Wu, Yuling
AU  - Wu Y
AD  - Department of Hematology, Hematology Research Laboratory, West China Hospital of 
      Sichuan University, Chengdu, Sichuan, People's Republic of China.
FAU - Xu, Juan
AU  - Xu J
FAU - Shen, Kai
AU  - Shen K
FAU - Ji, Jie
AU  - Ji J
FAU - Yang, Chenlu
AU  - Yang C
FAU - Liu, Ting
AU  - Liu T
FAU - Xiang, Bing
AU  - Xiang B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (Antineoplastic Agents)
SB  - IM
MH  - Adolescent
MH  - Antineoplastic Agents/therapeutic use
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Female
MH  - Hematopoietic Stem Cell Transplantation/methods
MH  - Humans
MH  - Leukemia, Myeloid, Acute/complications/*genetics/therapy
MH  - Lymphohistiocytosis, Hemophagocytic/complications/*genetics/therapy
MH  - Translocation, Genetic/*genetics
PMC - PMC6221639
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2018/11/02 06:00
MHDA- 2018/11/15 06:00
PMCR- 2018/11/02
CRDT- 2018/11/02 06:00
PHST- 2018/11/02 06:00 [entrez]
PHST- 2018/11/02 06:00 [pubmed]
PHST- 2018/11/15 06:00 [medline]
PHST- 2018/11/02 00:00 [pmc-release]
AID - 00005792-201811020-00009 [pii]
AID - MD-D-18-04009 [pii]
AID - 10.1097/MD.0000000000012762 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Nov;97(44):e12762. doi: 10.1097/MD.0000000000012762.