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Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma
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| Zeitschriftentitel: | Molecular Case Studies |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , , , , |
| In: | Molecular Case Studies, 6, 2020, 4, S. a005553 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Cold Spring Harbor Laboratory
|
| Schlagwörter: |
| author_facet |
Busch, Elena Kreutzfeldt, Simon Agaimy, Abbas Mechtersheimer, Gunhild Horak, Peter Brors, Benedikt Hutter, Barbara Fröhlich, Martina Uhrig, Sebastian Mayer, Philipp Schröck, Evelin Stenzinger, Albrecht Glimm, Hanno Jäger, Dirk Springfeld, Christoph Fröhling, Stefan Zschäbitz, Stefanie Busch, Elena Kreutzfeldt, Simon Agaimy, Abbas Mechtersheimer, Gunhild Horak, Peter Brors, Benedikt Hutter, Barbara Fröhlich, Martina Uhrig, Sebastian Mayer, Philipp Schröck, Evelin Stenzinger, Albrecht Glimm, Hanno Jäger, Dirk Springfeld, Christoph Fröhling, Stefan Zschäbitz, Stefanie |
|---|---|
| author |
Busch, Elena Kreutzfeldt, Simon Agaimy, Abbas Mechtersheimer, Gunhild Horak, Peter Brors, Benedikt Hutter, Barbara Fröhlich, Martina Uhrig, Sebastian Mayer, Philipp Schröck, Evelin Stenzinger, Albrecht Glimm, Hanno Jäger, Dirk Springfeld, Christoph Fröhling, Stefan Zschäbitz, Stefanie |
| spellingShingle |
Busch, Elena Kreutzfeldt, Simon Agaimy, Abbas Mechtersheimer, Gunhild Horak, Peter Brors, Benedikt Hutter, Barbara Fröhlich, Martina Uhrig, Sebastian Mayer, Philipp Schröck, Evelin Stenzinger, Albrecht Glimm, Hanno Jäger, Dirk Springfeld, Christoph Fröhling, Stefan Zschäbitz, Stefanie Molecular Case Studies Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma General Medicine |
| author_sort |
busch, elena |
| spelling |
Busch, Elena Kreutzfeldt, Simon Agaimy, Abbas Mechtersheimer, Gunhild Horak, Peter Brors, Benedikt Hutter, Barbara Fröhlich, Martina Uhrig, Sebastian Mayer, Philipp Schröck, Evelin Stenzinger, Albrecht Glimm, Hanno Jäger, Dirk Springfeld, Christoph Fröhling, Stefan Zschäbitz, Stefanie 2373-2865 2373-2873 Cold Spring Harbor Laboratory General Medicine http://dx.doi.org/10.1101/mcs.a005553 <jats:p>Pancreatic acinar cell carcinoma (PAC) is a rare disease with a poor prognosis. Treatment options for metastatic PAC are limited and often follow chemotherapeutic regimens for pancreatic ductal adenocarcinoma. Although recurrent genomic alterations, such as <jats:italic>BRAF</jats:italic> fusions and defects in genes involved in homologous recombination DNA repair, have been described in PAC, data on the clinical efficacy of molecularly guided, targeted treatment are scarce. Here we describe the case of a 27-yr-old patient with <jats:italic>BRAF</jats:italic><jats:sup>V600E</jats:sup>-mutated PAC who was successfully treated with a combination of BRAF and MEK inhibitors. The patient presented to our clinic with abdominal pain and weight loss. Imaging showed extensive retroperitoneal disease as well as mediastinal lymphadenopathy. Because of elevated α-fetoprotein (AFP) levels and inconclusive histologic findings, a germ cell tumor was suspected; however, PEI chemotherapy was unsuccessful. A repeat biopsy yielded the diagnosis of PAC and treatment with FOLFIRINOX was initiated. Comprehensive molecular profiling within the MASTER (Molecularly Aided Stratification for Tumor Eradication Research) precision oncology program revealed a somatic <jats:italic>BRAF</jats:italic><jats:sup>V600E</jats:sup> mutation and a germline <jats:italic>PALB2</jats:italic> stop-gain mutation. Therapy was therefore switched to BRAF/MEK inhibition, resulting in almost complete remission and disease control for 12 mo and a remarkable improvement in the patient's general condition. These results indicate that <jats:italic>BRAF</jats:italic> alterations are a valid therapeutic target in PAC that should be routinely assessed in this patient population.</jats:p> Successful BRAF/MEK inhibition in a patient with <i>BRAF</i><sup>V600E</sup>-mutated extrapancreatic acinar cell carcinoma Molecular Case Studies |
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Cold Spring Harbor Laboratory, 2020 |
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| title |
Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_unstemmed |
Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_full |
Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_fullStr |
Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_full_unstemmed |
Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_short |
Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_sort |
successful braf/mek inhibition in a patient with <i>braf</i><sup>v600e</sup>-mutated extrapancreatic acinar cell carcinoma |
| topic |
General Medicine |
| url |
http://dx.doi.org/10.1101/mcs.a005553 |
| publishDate |
2020 |
| physical |
a005553 |
| description |
<jats:p>Pancreatic acinar cell carcinoma (PAC) is a rare disease with a poor prognosis. Treatment options for metastatic PAC are limited and often follow chemotherapeutic regimens for pancreatic ductal adenocarcinoma. Although recurrent genomic alterations, such as <jats:italic>BRAF</jats:italic> fusions and defects in genes involved in homologous recombination DNA repair, have been described in PAC, data on the clinical efficacy of molecularly guided, targeted treatment are scarce. Here we describe the case of a 27-yr-old patient with <jats:italic>BRAF</jats:italic><jats:sup>V600E</jats:sup>-mutated PAC who was successfully treated with a combination of BRAF and MEK inhibitors. The patient presented to our clinic with abdominal pain and weight loss. Imaging showed extensive retroperitoneal disease as well as mediastinal lymphadenopathy. Because of elevated α-fetoprotein (AFP) levels and inconclusive histologic findings, a germ cell tumor was suspected; however, PEI chemotherapy was unsuccessful. A repeat biopsy yielded the diagnosis of PAC and treatment with FOLFIRINOX was initiated. Comprehensive molecular profiling within the MASTER (Molecularly Aided Stratification for Tumor Eradication Research) precision oncology program revealed a somatic <jats:italic>BRAF</jats:italic><jats:sup>V600E</jats:sup> mutation and a germline <jats:italic>PALB2</jats:italic> stop-gain mutation. Therapy was therefore switched to BRAF/MEK inhibition, resulting in almost complete remission and disease control for 12 mo and a remarkable improvement in the patient's general condition. These results indicate that <jats:italic>BRAF</jats:italic> alterations are a valid therapeutic target in PAC that should be routinely assessed in this patient population.</jats:p> |
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| author | Busch, Elena, Kreutzfeldt, Simon, Agaimy, Abbas, Mechtersheimer, Gunhild, Horak, Peter, Brors, Benedikt, Hutter, Barbara, Fröhlich, Martina, Uhrig, Sebastian, Mayer, Philipp, Schröck, Evelin, Stenzinger, Albrecht, Glimm, Hanno, Jäger, Dirk, Springfeld, Christoph, Fröhling, Stefan, Zschäbitz, Stefanie |
| author_facet | Busch, Elena, Kreutzfeldt, Simon, Agaimy, Abbas, Mechtersheimer, Gunhild, Horak, Peter, Brors, Benedikt, Hutter, Barbara, Fröhlich, Martina, Uhrig, Sebastian, Mayer, Philipp, Schröck, Evelin, Stenzinger, Albrecht, Glimm, Hanno, Jäger, Dirk, Springfeld, Christoph, Fröhling, Stefan, Zschäbitz, Stefanie, Busch, Elena, Kreutzfeldt, Simon, Agaimy, Abbas, Mechtersheimer, Gunhild, Horak, Peter, Brors, Benedikt, Hutter, Barbara, Fröhlich, Martina, Uhrig, Sebastian, Mayer, Philipp, Schröck, Evelin, Stenzinger, Albrecht, Glimm, Hanno, Jäger, Dirk, Springfeld, Christoph, Fröhling, Stefan, Zschäbitz, Stefanie |
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| description | <jats:p>Pancreatic acinar cell carcinoma (PAC) is a rare disease with a poor prognosis. Treatment options for metastatic PAC are limited and often follow chemotherapeutic regimens for pancreatic ductal adenocarcinoma. Although recurrent genomic alterations, such as <jats:italic>BRAF</jats:italic> fusions and defects in genes involved in homologous recombination DNA repair, have been described in PAC, data on the clinical efficacy of molecularly guided, targeted treatment are scarce. Here we describe the case of a 27-yr-old patient with <jats:italic>BRAF</jats:italic><jats:sup>V600E</jats:sup>-mutated PAC who was successfully treated with a combination of BRAF and MEK inhibitors. The patient presented to our clinic with abdominal pain and weight loss. Imaging showed extensive retroperitoneal disease as well as mediastinal lymphadenopathy. Because of elevated α-fetoprotein (AFP) levels and inconclusive histologic findings, a germ cell tumor was suspected; however, PEI chemotherapy was unsuccessful. A repeat biopsy yielded the diagnosis of PAC and treatment with FOLFIRINOX was initiated. Comprehensive molecular profiling within the MASTER (Molecularly Aided Stratification for Tumor Eradication Research) precision oncology program revealed a somatic <jats:italic>BRAF</jats:italic><jats:sup>V600E</jats:sup> mutation and a germline <jats:italic>PALB2</jats:italic> stop-gain mutation. Therapy was therefore switched to BRAF/MEK inhibition, resulting in almost complete remission and disease control for 12 mo and a remarkable improvement in the patient's general condition. These results indicate that <jats:italic>BRAF</jats:italic> alterations are a valid therapeutic target in PAC that should be routinely assessed in this patient population.</jats:p> |
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| spelling | Busch, Elena Kreutzfeldt, Simon Agaimy, Abbas Mechtersheimer, Gunhild Horak, Peter Brors, Benedikt Hutter, Barbara Fröhlich, Martina Uhrig, Sebastian Mayer, Philipp Schröck, Evelin Stenzinger, Albrecht Glimm, Hanno Jäger, Dirk Springfeld, Christoph Fröhling, Stefan Zschäbitz, Stefanie 2373-2865 2373-2873 Cold Spring Harbor Laboratory General Medicine http://dx.doi.org/10.1101/mcs.a005553 <jats:p>Pancreatic acinar cell carcinoma (PAC) is a rare disease with a poor prognosis. Treatment options for metastatic PAC are limited and often follow chemotherapeutic regimens for pancreatic ductal adenocarcinoma. Although recurrent genomic alterations, such as <jats:italic>BRAF</jats:italic> fusions and defects in genes involved in homologous recombination DNA repair, have been described in PAC, data on the clinical efficacy of molecularly guided, targeted treatment are scarce. Here we describe the case of a 27-yr-old patient with <jats:italic>BRAF</jats:italic><jats:sup>V600E</jats:sup>-mutated PAC who was successfully treated with a combination of BRAF and MEK inhibitors. The patient presented to our clinic with abdominal pain and weight loss. Imaging showed extensive retroperitoneal disease as well as mediastinal lymphadenopathy. Because of elevated α-fetoprotein (AFP) levels and inconclusive histologic findings, a germ cell tumor was suspected; however, PEI chemotherapy was unsuccessful. A repeat biopsy yielded the diagnosis of PAC and treatment with FOLFIRINOX was initiated. Comprehensive molecular profiling within the MASTER (Molecularly Aided Stratification for Tumor Eradication Research) precision oncology program revealed a somatic <jats:italic>BRAF</jats:italic><jats:sup>V600E</jats:sup> mutation and a germline <jats:italic>PALB2</jats:italic> stop-gain mutation. Therapy was therefore switched to BRAF/MEK inhibition, resulting in almost complete remission and disease control for 12 mo and a remarkable improvement in the patient's general condition. These results indicate that <jats:italic>BRAF</jats:italic> alterations are a valid therapeutic target in PAC that should be routinely assessed in this patient population.</jats:p> Successful BRAF/MEK inhibition in a patient with <i>BRAF</i><sup>V600E</sup>-mutated extrapancreatic acinar cell carcinoma Molecular Case Studies |
| spellingShingle | Busch, Elena, Kreutzfeldt, Simon, Agaimy, Abbas, Mechtersheimer, Gunhild, Horak, Peter, Brors, Benedikt, Hutter, Barbara, Fröhlich, Martina, Uhrig, Sebastian, Mayer, Philipp, Schröck, Evelin, Stenzinger, Albrecht, Glimm, Hanno, Jäger, Dirk, Springfeld, Christoph, Fröhling, Stefan, Zschäbitz, Stefanie, Molecular Case Studies, Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma, General Medicine |
| title | Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_full | Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_fullStr | Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_full_unstemmed | Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_short | Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| title_sort | successful braf/mek inhibition in a patient with <i>braf</i><sup>v600e</sup>-mutated extrapancreatic acinar cell carcinoma |
| title_unstemmed | Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma |
| topic | General Medicine |
| url | http://dx.doi.org/10.1101/mcs.a005553 |