A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to Crizotinib
Suspected metastatic site lesions that are poorly differentiated present a diagnostic challenge when morphologic and immunohistochemical profiling cannot establish the primary tumor site. Here we present a patient diagnosed with both a malignant neoplasm in the lung and a right upper extremity (RUE)...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2014-09-01
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| Series: | Case Reports in Oncology |
| Subjects: | |
| Online Access: | http://www.karger.com/Article/FullText/367780 |
| _version_ | 1819209019018969088 |
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| author | Jon H. Chung Siraj M. Ali Jenni Davis Karl Robstad Richard McNally Laurie M. Gay Rachel L. Erlich Norma A. Palma Phil J. Stephens Vincent A. Miller Alfonso Cutugno Jeffrey S. Ross |
| author_facet | Jon H. Chung Siraj M. Ali Jenni Davis Karl Robstad Richard McNally Laurie M. Gay Rachel L. Erlich Norma A. Palma Phil J. Stephens Vincent A. Miller Alfonso Cutugno Jeffrey S. Ross |
| author_sort | Jon H. Chung |
| collection | DOAJ |
| description | Suspected metastatic site lesions that are poorly differentiated present a diagnostic challenge when morphologic and immunohistochemical profiling cannot establish the primary tumor site. Here we present a patient diagnosed with both a malignant neoplasm in the lung and a right upper extremity (RUE) neoplasm of unclear histogenetic origin. Immunohistochemical staining performed on the latter specimen was inconclusive in determining the site of origin. Although the lung biopsy sample was insufficient for molecular testing, hybrid capture-based comprehensive genomic profiling (FoundationOne) identified an EML4-ALK rearrangement in the RUE lesion. Crizotinib treatment resulted in a major response in both the RUE and the lung lesions. This report illustrates the utility of comprehensive genomic profiling employed at the initial presentation of an unknown primary malignant neoplasm, which resulted in the front-line use of targeted therapy and a significant and sustained antitumor response. |
| first_indexed | 2024-12-23T05:48:37Z |
| format | Article |
| id | doaj.art-da0701258f32419591a4068c8d7137be |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-12-23T05:48:37Z |
| publishDate | 2014-09-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-da0701258f32419591a4068c8d7137be2022-12-21T17:58:02ZengKarger PublishersCase Reports in Oncology1662-65752014-09-017362863210.1159/000367780367780A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to CrizotinibJon H. ChungSiraj M. AliJenni DavisKarl RobstadRichard McNallyLaurie M. GayRachel L. ErlichNorma A. PalmaPhil J. StephensVincent A. MillerAlfonso CutugnoJeffrey S. RossSuspected metastatic site lesions that are poorly differentiated present a diagnostic challenge when morphologic and immunohistochemical profiling cannot establish the primary tumor site. Here we present a patient diagnosed with both a malignant neoplasm in the lung and a right upper extremity (RUE) neoplasm of unclear histogenetic origin. Immunohistochemical staining performed on the latter specimen was inconclusive in determining the site of origin. Although the lung biopsy sample was insufficient for molecular testing, hybrid capture-based comprehensive genomic profiling (FoundationOne) identified an EML4-ALK rearrangement in the RUE lesion. Crizotinib treatment resulted in a major response in both the RUE and the lung lesions. This report illustrates the utility of comprehensive genomic profiling employed at the initial presentation of an unknown primary malignant neoplasm, which resulted in the front-line use of targeted therapy and a significant and sustained antitumor response.http://www.karger.com/Article/FullText/367780CrizotinibALKUnknown primary tumor sitePoorly differentiated lung neoplasm |
| spellingShingle | Jon H. Chung Siraj M. Ali Jenni Davis Karl Robstad Richard McNally Laurie M. Gay Rachel L. Erlich Norma A. Palma Phil J. Stephens Vincent A. Miller Alfonso Cutugno Jeffrey S. Ross A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to Crizotinib Case Reports in Oncology Crizotinib ALK Unknown primary tumor site Poorly differentiated lung neoplasm |
| title | A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to Crizotinib |
| title_full | A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to Crizotinib |
| title_fullStr | A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to Crizotinib |
| title_full_unstemmed | A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to Crizotinib |
| title_short | A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to Crizotinib |
| title_sort | poorly differentiated malignant neoplasm lacking lung markers harbors an eml4 alk rearrangement and responds to crizotinib |
| topic | Crizotinib ALK Unknown primary tumor site Poorly differentiated lung neoplasm |
| url | http://www.karger.com/Article/FullText/367780 |
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