Cargando…

Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: A case report

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 (...

Descripción completa

Detalles Bibliográficos
Autores principales: Wu, Yuling, Xu, Juan, Shen, Kai, Ji, Jie, Yang, Chenlu, Liu, Ting, Xiang, Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221639/
https://www.ncbi.nlm.nih.gov/pubmed/30383631
http://dx.doi.org/10.1097/MD.0000000000012762
_version_ 1783369057295138816
author Wu, Yuling
Xu, Juan
Shen, Kai
Ji, Jie
Yang, Chenlu
Liu, Ting
Xiang, Bing
author_facet Wu, Yuling
Xu, Juan
Shen, Kai
Ji, Jie
Yang, Chenlu
Liu, Ting
Xiang, Bing
author_sort Wu, Yuling
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6221639
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Wolters Kluwer Health
record_format MEDLINE/PubMed
spelling pubmed-62216392018-12-04 Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: A case report Wu, Yuling Xu, Juan Shen, Kai Ji, Jie Yang, Chenlu Liu, Ting Xiang, Bing Medicine (Baltimore) Research Article 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. Wolters Kluwer Health 2018-11-02 /pmc/articles/PMC6221639/ /pubmed/30383631 http://dx.doi.org/10.1097/MD.0000000000012762 Text en Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0
spellingShingle Research Article
Wu, Yuling
Xu, Juan
Shen, Kai
Ji, Jie
Yang, Chenlu
Liu, Ting
Xiang, Bing
Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: A case report
title Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: A case report
title_full Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: A case report
title_fullStr Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: A case report
title_full_unstemmed Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: A case report
title_short Acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: A case report
title_sort acute myeloid leukemia with new complex t(8;21;22) induced hemophagocytic lymphohistiocytosis: a case report
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221639/
https://www.ncbi.nlm.nih.gov/pubmed/30383631
http://dx.doi.org/10.1097/MD.0000000000012762
work_keys_str_mv AT wuyuling acutemyeloidleukemiawithnewcomplext82122inducedhemophagocyticlymphohistiocytosisacasereport
AT xujuan acutemyeloidleukemiawithnewcomplext82122inducedhemophagocyticlymphohistiocytosisacasereport
AT shenkai acutemyeloidleukemiawithnewcomplext82122inducedhemophagocyticlymphohistiocytosisacasereport
AT jijie acutemyeloidleukemiawithnewcomplext82122inducedhemophagocyticlymphohistiocytosisacasereport
AT yangchenlu acutemyeloidleukemiawithnewcomplext82122inducedhemophagocyticlymphohistiocytosisacasereport
AT liuting acutemyeloidleukemiawithnewcomplext82122inducedhemophagocyticlymphohistiocytosisacasereport
AT xiangbing acutemyeloidleukemiawithnewcomplext82122inducedhemophagocyticlymphohistiocytosisacasereport