Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case Report
Locally advanced cholangiocarcinoma has a poor prognosis, with long-term survival only for patients where complete surgical resection is achieved. Median overall survival with chemotherapy alone is less than 1 year. Novel strategies combining conventional chemotherapy and radiotherapy followed by ta...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-04-01
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| Series: | Case Reports in Oncology |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/530164 |
| _version_ | 1797828669414047744 |
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| author | Sarah G. Mitchell Gargi D. Basu Bree Eaton Laurie J. Goodman Kelly C. Goldsmith |
| author_facet | Sarah G. Mitchell Gargi D. Basu Bree Eaton Laurie J. Goodman Kelly C. Goldsmith |
| author_sort | Sarah G. Mitchell |
| collection | DOAJ |
| description | Locally advanced cholangiocarcinoma has a poor prognosis, with long-term survival only for patients where complete surgical resection is achieved. Median overall survival with chemotherapy alone is less than 1 year. Novel strategies combining conventional chemotherapy and radiotherapy followed by targeted agents can lead to durable treatment responses and are applicable to cholangiocarcinoma management. Pediatric cholangiocarcinoma is exceedingly rare, with an estimate of 15–22 cases reported in the last 40 years. As such, no standard therapeutic regimen exists. We present a case of a 16-year-old previously healthy patient with unresectable cholangiocarcinoma whose tumor genetic sequencing revealed a novel, actionable neuregulin-1 (NRG1) gene translocation. The patient underwent standard systemic chemotherapy with gemcitabine and cisplatin followed by hypofractionated proton radiation therapy for local control. The patient then started an oral pan-ERBB (erythroblastic B receptor tyrosine kinases including ErbB1/EGFR, ErbB2/HER2, ErbB3/HER3, ErbB4/HER4) family inhibitor as a maintenance medication, remaining with stable disease and excellent quality of life for over 2 years. This case highlights a novel NRG1 fusion in a rare clinical entity that provided an opportunity to utilize a multimodal therapeutic strategy in the pediatric setting. |
| first_indexed | 2024-04-09T13:08:06Z |
| format | Article |
| id | doaj.art-7d4d20c363054d2fb1a8935b330229af |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-04-09T13:08:06Z |
| publishDate | 2023-04-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-7d4d20c363054d2fb1a8935b330229af2023-05-12T12:24:18ZengKarger PublishersCase Reports in Oncology1662-65752023-04-0116124925510.1159/000530164530164Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case ReportSarah G. Mitchell0https://orcid.org/0000-0003-1656-2799Gargi D. Basu1Bree Eaton2Laurie J. Goodman3Kelly C. Goldsmith4Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, Atlanta, GA, USAAshion Analytics, Phoenix, AZ, USAEmory University School of Medicine, Atlanta, GA, USAAshion Analytics, Phoenix, AZ, USAAflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, Atlanta, GA, USALocally advanced cholangiocarcinoma has a poor prognosis, with long-term survival only for patients where complete surgical resection is achieved. Median overall survival with chemotherapy alone is less than 1 year. Novel strategies combining conventional chemotherapy and radiotherapy followed by targeted agents can lead to durable treatment responses and are applicable to cholangiocarcinoma management. Pediatric cholangiocarcinoma is exceedingly rare, with an estimate of 15–22 cases reported in the last 40 years. As such, no standard therapeutic regimen exists. We present a case of a 16-year-old previously healthy patient with unresectable cholangiocarcinoma whose tumor genetic sequencing revealed a novel, actionable neuregulin-1 (NRG1) gene translocation. The patient underwent standard systemic chemotherapy with gemcitabine and cisplatin followed by hypofractionated proton radiation therapy for local control. The patient then started an oral pan-ERBB (erythroblastic B receptor tyrosine kinases including ErbB1/EGFR, ErbB2/HER2, ErbB3/HER3, ErbB4/HER4) family inhibitor as a maintenance medication, remaining with stable disease and excellent quality of life for over 2 years. This case highlights a novel NRG1 fusion in a rare clinical entity that provided an opportunity to utilize a multimodal therapeutic strategy in the pediatric setting.https://www.karger.com/Article/FullText/530164pediatric cholangiocarcinomanrg1 fusionprecision medicinecase report |
| spellingShingle | Sarah G. Mitchell Gargi D. Basu Bree Eaton Laurie J. Goodman Kelly C. Goldsmith Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case Report Case Reports in Oncology pediatric cholangiocarcinoma nrg1 fusion precision medicine case report |
| title | Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case Report |
| title_full | Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case Report |
| title_fullStr | Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case Report |
| title_full_unstemmed | Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case Report |
| title_short | Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case Report |
| title_sort | identification of a novel nrg1 fusion with targeted therapeutic implications in locally advanced pediatric cholangiocarcinoma a case report |
| topic | pediatric cholangiocarcinoma nrg1 fusion precision medicine case report |
| url | https://www.karger.com/Article/FullText/530164 |
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