A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicry

Abstract Acute lymphoblastic leukemia (ALL) with granular blasts was historically referred to as “granular ALL”, but this is not recognized as a distinct entity in the current WHO classification. This rare morphological feature is predominantly associated with a B-cell immunophenotype, while T-ALL w...

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Main Authors: Wenpeng Ni, Ji Liu, Kunyi Deng, Zhouyu Zeng, Qingzhu Kong, Xiaoling Weng
Format: Article
Language:English
Published: Springer 2024-11-01
Series:Discover Oncology
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Online Access:https://doi.org/10.1007/s12672-024-01600-1
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author Wenpeng Ni
Ji Liu
Kunyi Deng
Zhouyu Zeng
Qingzhu Kong
Xiaoling Weng
author_facet Wenpeng Ni
Ji Liu
Kunyi Deng
Zhouyu Zeng
Qingzhu Kong
Xiaoling Weng
author_sort Wenpeng Ni
collection DOAJ
description Abstract Acute lymphoblastic leukemia (ALL) with granular blasts was historically referred to as “granular ALL”, but this is not recognized as a distinct entity in the current WHO classification. This rare morphological feature is predominantly associated with a B-cell immunophenotype, while T-ALL with prominent cytoplasmic granules is extremely rare, with limited available genetic, molecular, and prognostic data. Here, we report a unique case of ALL in a 9-year-old girl. Initial blood tests revealed leukocytosis, and both peripheral blood and bone marrow morphology showed a high number of blasts with granular cytoplasm and bilobed nuclei. Immunophenotyping confirmed T-cell origin. The patient tested positive for KMT2A::AFDN, with WT1 overexpression, and NRAS and EZH2 mutations were detected by next-generation sequencing (NGS). Remarkably, the patient achieved complete remission after treatment and has shown no signs of relapse for nearly four years. Her favorable response to conventional therapy underscores the importance of molecular phenotyping in the treatment of this disease. The continued use of NGS to gather relevant molecular data is crucial for further understanding the molecular phenotype and prognosis of such atypical ALL cases.
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publishDate 2024-11-01
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series Discover Oncology
spelling doaj-art-4e62a3b7490d4351b57a54cd26908ddc2024-11-24T12:31:49ZengSpringerDiscover Oncology2730-60112024-11-011511910.1007/s12672-024-01600-1A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicryWenpeng Ni0Ji Liu1Kunyi Deng2Zhouyu Zeng3Qingzhu Kong4Xiaoling Weng5Clinical Laboratory, Boai Hospital of ZhongshanClinical Laboratory, Boai Hospital of ZhongshanClinical Laboratory, Boai Hospital of ZhongshanClinical Laboratory, Boai Hospital of ZhongshanClinical Laboratory, Boai Hospital of ZhongshanClinical Laboratory, Boai Hospital of ZhongshanAbstract Acute lymphoblastic leukemia (ALL) with granular blasts was historically referred to as “granular ALL”, but this is not recognized as a distinct entity in the current WHO classification. This rare morphological feature is predominantly associated with a B-cell immunophenotype, while T-ALL with prominent cytoplasmic granules is extremely rare, with limited available genetic, molecular, and prognostic data. Here, we report a unique case of ALL in a 9-year-old girl. Initial blood tests revealed leukocytosis, and both peripheral blood and bone marrow morphology showed a high number of blasts with granular cytoplasm and bilobed nuclei. Immunophenotyping confirmed T-cell origin. The patient tested positive for KMT2A::AFDN, with WT1 overexpression, and NRAS and EZH2 mutations were detected by next-generation sequencing (NGS). Remarkably, the patient achieved complete remission after treatment and has shown no signs of relapse for nearly four years. Her favorable response to conventional therapy underscores the importance of molecular phenotyping in the treatment of this disease. The continued use of NGS to gather relevant molecular data is crucial for further understanding the molecular phenotype and prognosis of such atypical ALL cases.https://doi.org/10.1007/s12672-024-01600-1Acute lymphoblastic leukemiaGranular blastsKMT2A::AFDNNGSNRAS mutationEZH2 mutation
spellingShingle Wenpeng Ni
Ji Liu
Kunyi Deng
Zhouyu Zeng
Qingzhu Kong
Xiaoling Weng
A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicry
Discover Oncology
Acute lymphoblastic leukemia
Granular blasts
KMT2A::AFDN
NGS
NRAS mutation
EZH2 mutation
title A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicry
title_full A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicry
title_fullStr A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicry
title_full_unstemmed A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicry
title_short A rare case of pediatric T-cell acute lymphoblastic leukemia with myeloid mimicry
title_sort rare case of pediatric t cell acute lymphoblastic leukemia with myeloid mimicry
topic Acute lymphoblastic leukemia
Granular blasts
KMT2A::AFDN
NGS
NRAS mutation
EZH2 mutation
url https://doi.org/10.1007/s12672-024-01600-1
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