Cargando…
Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report
RATIONALE: Follicular dendritic cell (FDC) sarcoma is a rare tumor with FDC differentiation that typically arises within lymph nodes but can also occur extranodally. To date, the primary esophageal FDC sarcoma has not been reported in the English literature. PATIENT CONCERNS: We described a 67-year-...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283200/ https://www.ncbi.nlm.nih.gov/pubmed/30508944 http://dx.doi.org/10.1097/MD.0000000000013413 |
_version_ | 1783379138412806144 |
---|---|
author | Ren, Wei Sun, Qi Wu, Pu-Yuan Huang, Bin Yang, Ju Yan, Jing Liu, Bao-Rui |
author_facet | Ren, Wei Sun, Qi Wu, Pu-Yuan Huang, Bin Yang, Ju Yan, Jing Liu, Bao-Rui |
author_sort | Ren, Wei |
collection | PubMed |
description | RATIONALE: Follicular dendritic cell (FDC) sarcoma is a rare tumor with FDC differentiation that typically arises within lymph nodes but can also occur extranodally. To date, the primary esophageal FDC sarcoma has not been reported in the English literature. PATIENT CONCERNS: We described a 67-year-old female who foremostly presented with dysphagia, and the patient was readmitted due to a dry cough and pain of his right shoulder 2 years after initial treatment. DIAGNOSES: Primary esophageal FDC sarcoma with the right superior mediastinal lymph node metastasis. INTERVENTIONS: The esophageal tumor was removed by endoscopic submucosal dissection at the first hospitalization. At the second hospitalization 2 years after the initial visit, the tracheal stent loaded with (125) iodine radioactive seeds was placed. The profiles of genetic variations and immunotherapeutic biomarkers were also explored by next-generation sequencing protocol from the patient's blood, esophageal primary, and mediastinal metastatic tumor samples. OUTCOMES: The patient's symptom transitorily relieved, but she gave up further treatment and died 2 months after the tracheal stent was placed. As for the genomic alterations, we found 9 gene mutations in all the samples, including checkpoint kinase 2(CHEK2), FAT atypical cadherin 1 (FAT1), tumor protein 53 (TP53), DPYD, ERBB2 interacting protein (ERBB2IP), FBXW7, KMT2D, PPP2R1A, TSC2, whereas amplification of MYC was only in the metastatic example. The analysis of clonal evolution and phylogenetic tree showed the propagation and replay of polyclonal esophageal FDC sarcoma. At the same time, the detection of biomarkers for immunotherapy revealed microsatellite stable and mismatch repair-proficient (pMMR), which predicted a relatively poor anti-programmed death (PD-1)/programmed death ligand (PD-L1) immunotherapy outcome. On the contrary, the tumor mutational burdens were 10 mutations per 1 million bases in both the primary and metastatic tumor sample, which ranked the top 23.3% in solid tumors mutational burdens database of Geneseeq and might be a good predictor of the efficacy of anti-PD-1/PD-L1 immunotherapy. LESSONS: To the best of our knowledge, this case report announced the first case of extranodal primary esophageal FDC sarcoma in the world, and firstly revealed its unique genetic alterations profiles, which might contribute to further in-depth study of this rare disease. |
format | Online Article Text |
id | pubmed-6283200 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-62832002018-12-26 Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report Ren, Wei Sun, Qi Wu, Pu-Yuan Huang, Bin Yang, Ju Yan, Jing Liu, Bao-Rui Medicine (Baltimore) Research Article RATIONALE: Follicular dendritic cell (FDC) sarcoma is a rare tumor with FDC differentiation that typically arises within lymph nodes but can also occur extranodally. To date, the primary esophageal FDC sarcoma has not been reported in the English literature. PATIENT CONCERNS: We described a 67-year-old female who foremostly presented with dysphagia, and the patient was readmitted due to a dry cough and pain of his right shoulder 2 years after initial treatment. DIAGNOSES: Primary esophageal FDC sarcoma with the right superior mediastinal lymph node metastasis. INTERVENTIONS: The esophageal tumor was removed by endoscopic submucosal dissection at the first hospitalization. At the second hospitalization 2 years after the initial visit, the tracheal stent loaded with (125) iodine radioactive seeds was placed. The profiles of genetic variations and immunotherapeutic biomarkers were also explored by next-generation sequencing protocol from the patient's blood, esophageal primary, and mediastinal metastatic tumor samples. OUTCOMES: The patient's symptom transitorily relieved, but she gave up further treatment and died 2 months after the tracheal stent was placed. As for the genomic alterations, we found 9 gene mutations in all the samples, including checkpoint kinase 2(CHEK2), FAT atypical cadherin 1 (FAT1), tumor protein 53 (TP53), DPYD, ERBB2 interacting protein (ERBB2IP), FBXW7, KMT2D, PPP2R1A, TSC2, whereas amplification of MYC was only in the metastatic example. The analysis of clonal evolution and phylogenetic tree showed the propagation and replay of polyclonal esophageal FDC sarcoma. At the same time, the detection of biomarkers for immunotherapy revealed microsatellite stable and mismatch repair-proficient (pMMR), which predicted a relatively poor anti-programmed death (PD-1)/programmed death ligand (PD-L1) immunotherapy outcome. On the contrary, the tumor mutational burdens were 10 mutations per 1 million bases in both the primary and metastatic tumor sample, which ranked the top 23.3% in solid tumors mutational burdens database of Geneseeq and might be a good predictor of the efficacy of anti-PD-1/PD-L1 immunotherapy. LESSONS: To the best of our knowledge, this case report announced the first case of extranodal primary esophageal FDC sarcoma in the world, and firstly revealed its unique genetic alterations profiles, which might contribute to further in-depth study of this rare disease. Wolters Kluwer Health 2018-11-30 /pmc/articles/PMC6283200/ /pubmed/30508944 http://dx.doi.org/10.1097/MD.0000000000013413 Text en Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 |
spellingShingle | Research Article Ren, Wei Sun, Qi Wu, Pu-Yuan Huang, Bin Yang, Ju Yan, Jing Liu, Bao-Rui Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report |
title | Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report |
title_full | Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report |
title_fullStr | Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report |
title_full_unstemmed | Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report |
title_short | Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report |
title_sort | profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: a case report |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283200/ https://www.ncbi.nlm.nih.gov/pubmed/30508944 http://dx.doi.org/10.1097/MD.0000000000013413 |
work_keys_str_mv | AT renwei profilesofgenomicalterationsinprimaryesophagealfolliculardendriticcellsarcomaacasereport AT sunqi profilesofgenomicalterationsinprimaryesophagealfolliculardendriticcellsarcomaacasereport AT wupuyuan profilesofgenomicalterationsinprimaryesophagealfolliculardendriticcellsarcomaacasereport AT huangbin profilesofgenomicalterationsinprimaryesophagealfolliculardendriticcellsarcomaacasereport AT yangju profilesofgenomicalterationsinprimaryesophagealfolliculardendriticcellsarcomaacasereport AT yanjing profilesofgenomicalterationsinprimaryesophagealfolliculardendriticcellsarcomaacasereport AT liubaorui profilesofgenomicalterationsinprimaryesophagealfolliculardendriticcellsarcomaacasereport |