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Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases
Mast cell leukemia with associated hematologic neoplasm (MCL-AHN) is a rare and highly aggressive entity that remains understudied due to the paucity of cases. We present a case of a 45-year-old man who was concurrently diagnosed with mast cell leukemia and acute myeloid leukemia. We identified four...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8474637/ https://www.ncbi.nlm.nih.gov/pubmed/34589432 http://dx.doi.org/10.3389/fonc.2021.730503 |
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author | Li, Philippa Biancon, Giulia Patel, Timil Pan, Zenggang Kothari, Shalin Halene, Stephanie Prebet, Thomas Xu, Mina L. |
author_facet | Li, Philippa Biancon, Giulia Patel, Timil Pan, Zenggang Kothari, Shalin Halene, Stephanie Prebet, Thomas Xu, Mina L. |
author_sort | Li, Philippa |
collection | PubMed |
description | Mast cell leukemia with associated hematologic neoplasm (MCL-AHN) is a rare and highly aggressive entity that remains understudied due to the paucity of cases. We present a case of a 45-year-old man who was concurrently diagnosed with mast cell leukemia and acute myeloid leukemia. We identified four additional patients who had MCL-AHN in our institution and performed whole-exome sequencing of all available tumors. Our series revealed a novel and identical NR2F6 variant shared among two of the patients. This case series and sequencing results demonstrate the importance of fully characterizing rare tumors that are resistant to treatment. |
format | Online Article Text |
id | pubmed-8474637 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-84746372021-09-28 Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases Li, Philippa Biancon, Giulia Patel, Timil Pan, Zenggang Kothari, Shalin Halene, Stephanie Prebet, Thomas Xu, Mina L. Front Oncol Oncology Mast cell leukemia with associated hematologic neoplasm (MCL-AHN) is a rare and highly aggressive entity that remains understudied due to the paucity of cases. We present a case of a 45-year-old man who was concurrently diagnosed with mast cell leukemia and acute myeloid leukemia. We identified four additional patients who had MCL-AHN in our institution and performed whole-exome sequencing of all available tumors. Our series revealed a novel and identical NR2F6 variant shared among two of the patients. This case series and sequencing results demonstrate the importance of fully characterizing rare tumors that are resistant to treatment. Frontiers Media S.A. 2021-09-13 /pmc/articles/PMC8474637/ /pubmed/34589432 http://dx.doi.org/10.3389/fonc.2021.730503 Text en Copyright © 2021 Li, Biancon, Patel, Pan, Kothari, Halene, Prebet and Xu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Li, Philippa Biancon, Giulia Patel, Timil Pan, Zenggang Kothari, Shalin Halene, Stephanie Prebet, Thomas Xu, Mina L. Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases |
title | Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases |
title_full | Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases |
title_fullStr | Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases |
title_full_unstemmed | Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases |
title_short | Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases |
title_sort | comprehensive clinicopathologic and molecular analysis of mast cell leukemia with associated hematologic neoplasm: a report and in-depth study of 5 cases |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8474637/ https://www.ncbi.nlm.nih.gov/pubmed/34589432 http://dx.doi.org/10.3389/fonc.2021.730503 |
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