A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease That Transformed to Acute Leukemia With IDH2 Mutation

An elderly 72-year-old man presented with anemia, thrombocytopenia, monocytosis, splenomegaly and lymphadenopathy. Bone marrow biopsy was consistent with mast cell neoplasm with positive CD117, CD25, CD34 myeloblasts and polymerase chain reaction (PCR) revealed mutation of D816V. He developed bilate...

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Autores principales: Liman, Andrew D., Shields, Jenna, Liman, Agnes K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383603/
https://www.ncbi.nlm.nih.gov/pubmed/34434337
http://dx.doi.org/10.14740/jmc3552
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author Liman, Andrew D.
Shields, Jenna
Liman, Agnes K.
author_facet Liman, Andrew D.
Shields, Jenna
Liman, Agnes K.
author_sort Liman, Andrew D.
collection PubMed
description An elderly 72-year-old man presented with anemia, thrombocytopenia, monocytosis, splenomegaly and lymphadenopathy. Bone marrow biopsy was consistent with mast cell neoplasm with positive CD117, CD25, CD34 myeloblasts and polymerase chain reaction (PCR) revealed mutation of D816V. He developed bilateral femoral neck fractures and biopsy confirmed that he has systemic mastocytosis (SM). He received cladribine and midostaurin with stable disease for 21 months. His SM with associated clonal hematological non-mast cell lineage disease (SM-AHNMD) transformed to acute myelogenous leukemia with isocitrate dehydrogenase 2 (IDH2) mutation. A trial of enasidenib was given for 5 months but without any response. Patient decided to go with home hospice and died afterwards.
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spelling pubmed-83836032021-08-24 A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease That Transformed to Acute Leukemia With IDH2 Mutation Liman, Andrew D. Shields, Jenna Liman, Agnes K. J Med Cases Case Report An elderly 72-year-old man presented with anemia, thrombocytopenia, monocytosis, splenomegaly and lymphadenopathy. Bone marrow biopsy was consistent with mast cell neoplasm with positive CD117, CD25, CD34 myeloblasts and polymerase chain reaction (PCR) revealed mutation of D816V. He developed bilateral femoral neck fractures and biopsy confirmed that he has systemic mastocytosis (SM). He received cladribine and midostaurin with stable disease for 21 months. His SM with associated clonal hematological non-mast cell lineage disease (SM-AHNMD) transformed to acute myelogenous leukemia with isocitrate dehydrogenase 2 (IDH2) mutation. A trial of enasidenib was given for 5 months but without any response. Patient decided to go with home hospice and died afterwards. Elmer Press 2020-10 2020-08-28 /pmc/articles/PMC8383603/ /pubmed/34434337 http://dx.doi.org/10.14740/jmc3552 Text en Copyright 2020, Liman et al. https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Liman, Andrew D.
Shields, Jenna
Liman, Agnes K.
A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease That Transformed to Acute Leukemia With IDH2 Mutation
title A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease That Transformed to Acute Leukemia With IDH2 Mutation
title_full A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease That Transformed to Acute Leukemia With IDH2 Mutation
title_fullStr A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease That Transformed to Acute Leukemia With IDH2 Mutation
title_full_unstemmed A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease That Transformed to Acute Leukemia With IDH2 Mutation
title_short A Rare Case of Systemic Mastocytosis With Associated Clonal Hematological Non-Mast Cell Lineage Disease That Transformed to Acute Leukemia With IDH2 Mutation
title_sort rare case of systemic mastocytosis with associated clonal hematological non-mast cell lineage disease that transformed to acute leukemia with idh2 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383603/
https://www.ncbi.nlm.nih.gov/pubmed/34434337
http://dx.doi.org/10.14740/jmc3552
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