Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis
Cutaneous spindle cell malignancy is associated with a broad differential diagnosis, particularly in the absence of a known primary melanocytic lesion. We present an unusually challenging patient who presented with clinical symptoms involving cranial nerves VII and VIII and a parotid-region mass, wh...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2018/9410465 |
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| author | Katie Fox Hanson Paul Birinyi Ronald Walker Constantine Raptis Rebecca Chernock Jeroen Coppens Katherine E. Schwetye |
| author_facet | Katie Fox Hanson Paul Birinyi Ronald Walker Constantine Raptis Rebecca Chernock Jeroen Coppens Katherine E. Schwetye |
| author_sort | Katie Fox Hanson |
| collection | DOAJ |
| description | Cutaneous spindle cell malignancy is associated with a broad differential diagnosis, particularly in the absence of a known primary melanocytic lesion. We present an unusually challenging patient who presented with clinical symptoms involving cranial nerves VII and VIII and a parotid-region mass, which was S100-positive while lacking in melanocytic pigment and markers. Over a year after resection of the parotid mass, both a cutaneous primary lentigo maligna melanoma and a metastatic CP angle melanoma were diagnosed in the same patient, prompting reconsideration of the diagnosis in the original parotid-region mass. Next-generation sequencing of a panel of cancer-associated genes demonstrated 19 identical, clinically significant mutations as well as a high tumor mutation burden in both the parotid-region and CP angle tumors, indicating a metastatic relationship between the two and a melanocytic identity of the parotid-region tumor. |
| format | Article |
| id | doaj-art-8171c80436f649b7b7fe12b0f2585b3f |
| institution | Kabale University |
| issn | 2090-6781 2090-679X |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-8171c80436f649b7b7fe12b0f2585b3f2025-02-03T01:02:31ZengWileyCase Reports in Pathology2090-67812090-679X2018-01-01201810.1155/2018/94104659410465Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in DiagnosisKatie Fox Hanson0Paul Birinyi1Ronald Walker2Constantine Raptis3Rebecca Chernock4Jeroen Coppens5Katherine E. Schwetye6Department of Pathology, Saint Louis University School of Medicine, 1402 S. Grand Blvd., St. Louis, MO 63104, USAUniversity of Tennessee Health Science Center, Department of Neurosurgery/Semmes-Murphey Clinic, USADepartment of Otolaryngology, Saint Louis University School of Medicine, 1402 S. Grand Blvd., St. Louis, MO 63104, USAMallinckrodt Institute of Radiology, Washington University School of Medicine, 660 S. Euclid Ave., St. Louis, MO 63110, USADepartment of Pathology and Immunology, Washington University School of Medicine, 660 S. Euclid Ave., St. Louis, MO 63110, USADepartment of Neurosurgery, Saint Louis University School of Medicine, 1402 S. Grand Blvd., St. Louis, MO 63104, USADepartment of Pathology, Saint Louis University School of Medicine, 1402 S. Grand Blvd., St. Louis, MO 63104, USACutaneous spindle cell malignancy is associated with a broad differential diagnosis, particularly in the absence of a known primary melanocytic lesion. We present an unusually challenging patient who presented with clinical symptoms involving cranial nerves VII and VIII and a parotid-region mass, which was S100-positive while lacking in melanocytic pigment and markers. Over a year after resection of the parotid mass, both a cutaneous primary lentigo maligna melanoma and a metastatic CP angle melanoma were diagnosed in the same patient, prompting reconsideration of the diagnosis in the original parotid-region mass. Next-generation sequencing of a panel of cancer-associated genes demonstrated 19 identical, clinically significant mutations as well as a high tumor mutation burden in both the parotid-region and CP angle tumors, indicating a metastatic relationship between the two and a melanocytic identity of the parotid-region tumor.http://dx.doi.org/10.1155/2018/9410465 |
| spellingShingle | Katie Fox Hanson Paul Birinyi Ronald Walker Constantine Raptis Rebecca Chernock Jeroen Coppens Katherine E. Schwetye Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis Case Reports in Pathology |
| title | Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis |
| title_full | Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis |
| title_fullStr | Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis |
| title_full_unstemmed | Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis |
| title_short | Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis |
| title_sort | melanoma mimicking malignant peripheral nerve sheath tumor with spread to the cerebellopontine angle utility of next generation sequencing in diagnosis |
| url | http://dx.doi.org/10.1155/2018/9410465 |
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