Genomic Profiling Reveals Medullary Thyroid Cancer Misdiagnosed as Lung Cancer
Mutations or other alterations in the RET gene have been implicated in a variety of malignancies – most commonly thyroid, but also chronic myelomonocytic leukemia, acute myeloid leukemia, and lung, breast, pancreatic, and colon cancers. Here we present a case of a gentlemen initially diagnosed with...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2018-06-01
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| Series: | Case Reports in Oncology |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/490238 |
| _version_ | 1818348987842822144 |
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| author | Eva J. Gordon David Parker Kelly Barth Jennifer Pena Julia A. Elvin Thomas DeLeon Nina J. Karlin |
| author_facet | Eva J. Gordon David Parker Kelly Barth Jennifer Pena Julia A. Elvin Thomas DeLeon Nina J. Karlin |
| author_sort | Eva J. Gordon |
| collection | DOAJ |
| description | Mutations or other alterations in the RET gene have been implicated in a variety of malignancies – most commonly thyroid, but also chronic myelomonocytic leukemia, acute myeloid leukemia, and lung, breast, pancreatic, and colon cancers. Here we present a case of a gentlemen initially diagnosed with and treated for non-small cell lung adenocarcinoma. Genomic profiling of his tumor specimen revealed a RET point mutation with a known association with medullary thyroid cancer (MTC). Further pathological and molecular diagnostic evaluation confirmed a diagnosis of MTC, leading to a change in treatment from standard chemotherapy for non-small cell lung cancer to targeted therapy against RET and potential implications regarding inherited cancer risk for his offspring. The patient experienced a clinical response to treatment and several months of improved quality of life. This case illustrates the capacity of genomic profiling to uncover molecular drivers of disease and help ensure proper diagnosis and management of cancer. |
| first_indexed | 2024-12-13T17:58:47Z |
| format | Article |
| id | doaj.art-e8f337965fe64b108d7a07d234358547 |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-12-13T17:58:47Z |
| publishDate | 2018-06-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-e8f337965fe64b108d7a07d2343585472022-12-21T23:36:18ZengKarger PublishersCase Reports in Oncology1662-65752018-06-0111239940310.1159/000490238490238Genomic Profiling Reveals Medullary Thyroid Cancer Misdiagnosed as Lung CancerEva J. GordonDavid ParkerKelly BarthJennifer PenaJulia A. ElvinThomas DeLeonNina J. KarlinMutations or other alterations in the RET gene have been implicated in a variety of malignancies – most commonly thyroid, but also chronic myelomonocytic leukemia, acute myeloid leukemia, and lung, breast, pancreatic, and colon cancers. Here we present a case of a gentlemen initially diagnosed with and treated for non-small cell lung adenocarcinoma. Genomic profiling of his tumor specimen revealed a RET point mutation with a known association with medullary thyroid cancer (MTC). Further pathological and molecular diagnostic evaluation confirmed a diagnosis of MTC, leading to a change in treatment from standard chemotherapy for non-small cell lung cancer to targeted therapy against RET and potential implications regarding inherited cancer risk for his offspring. The patient experienced a clinical response to treatment and several months of improved quality of life. This case illustrates the capacity of genomic profiling to uncover molecular drivers of disease and help ensure proper diagnosis and management of cancer.https://www.karger.com/Article/FullText/490238Genomic profilingMedullary thyroid cancerNon-small cell lung cancerRET mutationMisdiagnosis |
| spellingShingle | Eva J. Gordon David Parker Kelly Barth Jennifer Pena Julia A. Elvin Thomas DeLeon Nina J. Karlin Genomic Profiling Reveals Medullary Thyroid Cancer Misdiagnosed as Lung Cancer Case Reports in Oncology Genomic profiling Medullary thyroid cancer Non-small cell lung cancer RET mutation Misdiagnosis |
| title | Genomic Profiling Reveals Medullary Thyroid Cancer Misdiagnosed as Lung Cancer |
| title_full | Genomic Profiling Reveals Medullary Thyroid Cancer Misdiagnosed as Lung Cancer |
| title_fullStr | Genomic Profiling Reveals Medullary Thyroid Cancer Misdiagnosed as Lung Cancer |
| title_full_unstemmed | Genomic Profiling Reveals Medullary Thyroid Cancer Misdiagnosed as Lung Cancer |
| title_short | Genomic Profiling Reveals Medullary Thyroid Cancer Misdiagnosed as Lung Cancer |
| title_sort | genomic profiling reveals medullary thyroid cancer misdiagnosed as lung cancer |
| topic | Genomic profiling Medullary thyroid cancer Non-small cell lung cancer RET mutation Misdiagnosis |
| url | https://www.karger.com/Article/FullText/490238 |
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