Dataset Information

Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.

ABSTRACT: In order to identify the molecular pathways governing melanoma and track its progression, the next-generation sequencing (NGS) approach and targeted sequencing of cancer genes were employed. The primary tumor, as well as metastatic tissue, of an 84-year-old patient diagnosed with vulvar melanoma (VM), were investigated. The primary tumor specimen showed multiple somatic mutations in TP53 gene, suggesting its major contribution to melanoma origin. The metastatic sample showed additional alterations, including other melanoma-related genes. Clinical relevancy is postulated to juxtamembrane region instability of KIT gene (c-KIT). We did not identify BRAF or NRAS alterations, which are typical for the most common melanoma pathway-MAPK cascade. However, it should be noted that this is the first report evidencing PDGFRA in melanoma, although its role in triggering VM needs to be further elucidated.

SUBMITTER: Englert-Golon M

PROVIDER: S-EPMC9139488 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.

Englert-Golon Monika M Budny Bartłomiej B Lewandowska Małgorzata M Burchardt Bartosz B Smolarek Natalia N Ziemnicka Katarzyna K Jagodziński Paweł Piotr PP Ruchała Marek M Grabowska Marlena M Sajdak Stefan S

Current oncology (Toronto, Ont.) 20220429 5

In order to identify the molecular pathways governing melanoma and track its progression, the next-generation sequencing (NGS) approach and targeted sequencing of cancer genes were employed. The primary tumor, as well as metastatic tissue, of an 84-year-old patient diagnosed with vulvar melanoma (VM), were investigated. The primary tumor specimen showed multiple somatic mutations in <i>TP53</i> gene, suggesting its major contribution to melanoma origin. The metastatic sample showed additional al ...[more]

PMID: 35621644

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Project description:RationaleCellular angiofibroma (CA) is a rare tumor of the soft tissue classified as a benign fibroblastic/myofibroblastic tumor. Considering this, the literature regarding CA mainly, but not exclusively, comprises single case reports and case series. Here, we report a case of giant CA of the vulva with comprehensive literature review.Patient concernsWe present a case of a massive vulvar CA arising in 53-year-old woman with no notable medical or surgical history. The mass has grown considerably over time, causing pain and difficult urination, defecation, and movement. The patient had normal regular menstrual cycle with no previous contraception use. Vaginal examination exposed a right-sided large tender vulvar mass with normal-looking vagina.DiagnosesPelvic magnetic resonance imaging with contrast revealed a large right vulvar heterogeneously enhancing soft tissue mass measuring 13.1 × 10.9 × 10.7 cm expending the left vulva, with internal and peripheral voids resembling feeding vessels. The mass was surgically removed, and subsequent histopathology showed skin-covered dermal-based lesion composed of fibroblast-like bland and spindle cell proliferation with thin-walled blood vessels of various sizes. Immunohistostaining of CD34 and smooth muscle antigen were both positive, while desmin was found to be negative. A diagnosis of vulvar angiofibroma was made based on the clinical scenario, imaging, and histopathology.InterventionsMass vulvectomy was performed starting with a circumferential incision at the base of the mass and structural dissection to separate the mass from the vulvar wall. The incision was successfully closed, and subcuticular stitches were applied to the skin.OutcomesThe patient's complaints were significantly relieved with no postoperative complications and the patient is being followed regularly in an outpatient setting.LessonsDue to its extremely benign nature of CA, and the implausible ability of its recurrence, it was decided to surgically excise it. Despite its rarity, it can be readily identified at its earlier stages preventing the vexing and exasperating symptoms accompanied with increased size as mentioned.

Dataset Information

Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.

Publications

Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.

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