Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer
Melanoma metastasis from an unknown primary cancer has an incidence of 3.2% among melanoma patients. Furthermore, paraneoplastic neurological syndromes (PNS) are rare, occurring in 1–3% of patients with malignancies. Paraneoplastic cerebellar degeneration (PCD) is one of the classic PNS and is chara...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2020-06-01
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| Series: | Case Reports in Oncology |
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| Online Access: | https://www.karger.com/Article/FullText/507729 |
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| author | Omar Jiménez-Zarazúa Lourdes Noemí Vélez-Ramírez María Alcocer-León Diego Armando Hernández-Domínguez Juana Elizabeth Tadeo-González María Andrea Martínez-Rivera Martín Daniel Alejandro López-González Sandra Xaviera Lizeth Tafoya-Rojas Jaime Daniel Mondragón |
| author_facet | Omar Jiménez-Zarazúa Lourdes Noemí Vélez-Ramírez María Alcocer-León Diego Armando Hernández-Domínguez Juana Elizabeth Tadeo-González María Andrea Martínez-Rivera Martín Daniel Alejandro López-González Sandra Xaviera Lizeth Tafoya-Rojas Jaime Daniel Mondragón |
| author_sort | Omar Jiménez-Zarazúa |
| collection | DOAJ |
| description | Melanoma metastasis from an unknown primary cancer has an incidence of 3.2% among melanoma patients. Furthermore, paraneoplastic neurological syndromes (PNS) are rare, occurring in 1–3% of patients with malignancies. Paraneoplastic cerebellar degeneration (PCD) is one of the classic PNS and is characterized by acute or subacute onset of ataxia and/or presence of onconeural antibodies. A 61-year-old male with ataxia, vertigo, and headache later developed dysarthria, multidirectional nystagmus, hyperactive delirium, auditory hallucinations, psychomotor agitation, and myoclonus. Toxicological, metabolic, infectious, and autoimmune etiologies were assessed and reported negative. An osteolytic lesion was observed in the right iliac crest via computed tomography (CT). A positron emission tomography-CT reported increased fluorodeoxyglucose uptake of a right iliac and right inguinal ganglion. After biopsy of the right inguinal ganglion, a BRAF mutation-positive melanoma metastasis from an occult primary cancer was diagnosed. Dermatologic, ophthalmologic, and endoscopic gastrointestinal assessment did not reveal a primary malignant melanoma. The patient’s movement disorders and neuropsychiatric symptoms improved with quetiapine, prednisone, azathioprine, and cyclophosphamide. Oncological management was conducted with MAPK pathway inhibitors (i.e., dabrafenib and trametinib). Movement disorders associated with neuropsychiatric symptoms are complex to diagnose. PNS are rare and often associated with antibodies against neural antigens expressed by the tumor. The case presented above describes a patient with a BRAF-positive malignant melanoma metastasis from an occult primary associated with PCD – to the best of our knowledge, the first reported in the literature. |
| first_indexed | 2024-04-13T04:49:11Z |
| format | Article |
| id | doaj.art-cf3f3ea7b04c42e6bb8ba31430c3ead9 |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-04-13T04:49:11Z |
| publishDate | 2020-06-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-cf3f3ea7b04c42e6bb8ba31430c3ead92022-12-22T03:01:45ZengKarger PublishersCase Reports in Oncology1662-65752020-06-0113263364210.1159/000507729507729Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary CancerOmar Jiménez-ZarazúaLourdes Noemí Vélez-RamírezMaría Alcocer-LeónDiego Armando Hernández-DomínguezJuana Elizabeth Tadeo-GonzálezMaría Andrea Martínez-RiveraMartín Daniel Alejandro López-GonzálezSandra Xaviera Lizeth Tafoya-RojasJaime Daniel MondragónMelanoma metastasis from an unknown primary cancer has an incidence of 3.2% among melanoma patients. Furthermore, paraneoplastic neurological syndromes (PNS) are rare, occurring in 1–3% of patients with malignancies. Paraneoplastic cerebellar degeneration (PCD) is one of the classic PNS and is characterized by acute or subacute onset of ataxia and/or presence of onconeural antibodies. A 61-year-old male with ataxia, vertigo, and headache later developed dysarthria, multidirectional nystagmus, hyperactive delirium, auditory hallucinations, psychomotor agitation, and myoclonus. Toxicological, metabolic, infectious, and autoimmune etiologies were assessed and reported negative. An osteolytic lesion was observed in the right iliac crest via computed tomography (CT). A positron emission tomography-CT reported increased fluorodeoxyglucose uptake of a right iliac and right inguinal ganglion. After biopsy of the right inguinal ganglion, a BRAF mutation-positive melanoma metastasis from an occult primary cancer was diagnosed. Dermatologic, ophthalmologic, and endoscopic gastrointestinal assessment did not reveal a primary malignant melanoma. The patient’s movement disorders and neuropsychiatric symptoms improved with quetiapine, prednisone, azathioprine, and cyclophosphamide. Oncological management was conducted with MAPK pathway inhibitors (i.e., dabrafenib and trametinib). Movement disorders associated with neuropsychiatric symptoms are complex to diagnose. PNS are rare and often associated with antibodies against neural antigens expressed by the tumor. The case presented above describes a patient with a BRAF-positive malignant melanoma metastasis from an occult primary associated with PCD – to the best of our knowledge, the first reported in the literature.https://www.karger.com/Article/FullText/507729melanomanervous system paraneoplastic syndromeoccult primary neoplasmparaneoplastic cerebellar degenerationproto-oncogene protein b-raf |
| spellingShingle | Omar Jiménez-Zarazúa Lourdes Noemí Vélez-Ramírez María Alcocer-León Diego Armando Hernández-Domínguez Juana Elizabeth Tadeo-González María Andrea Martínez-Rivera Martín Daniel Alejandro López-González Sandra Xaviera Lizeth Tafoya-Rojas Jaime Daniel Mondragón Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer Case Reports in Oncology melanoma nervous system paraneoplastic syndrome occult primary neoplasm paraneoplastic cerebellar degeneration proto-oncogene protein b-raf |
| title | Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer |
| title_full | Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer |
| title_fullStr | Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer |
| title_full_unstemmed | Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer |
| title_short | Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer |
| title_sort | paraneoplastic cerebellar degeneration secondary to braf mutant melanoma metastasis from an occult primary cancer |
| topic | melanoma nervous system paraneoplastic syndrome occult primary neoplasm paraneoplastic cerebellar degeneration proto-oncogene protein b-raf |
| url | https://www.karger.com/Article/FullText/507729 |
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