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Skin Health and Disease Aug 2023
PubMed: 37538320
DOI: 10.1002/ski2.233 -
Therapeutic Advances in Medical Oncology 2020Metastatic vulvar melanoma is a rare and aggressive disease and survival is usually poor. Vulvar melanomas harbor BRAF V600 mutations only infrequently; consequently,...
Metastatic vulvar melanoma is a rare and aggressive disease and survival is usually poor. Vulvar melanomas harbor BRAF V600 mutations only infrequently; consequently, target therapy is a rare therapeutic option and immunotherapy usually has only a weak effect. On the other hand, KIT mutations are rare in cutaneous melanomas, but relatively frequent in mucosal melanomas, particularly in vulvar-vaginal melanomas, and can be a therapeutic target. Herein, we report a clinical case of a patient with metastatic vulvar melanoma, harboring an exon 17 c-KIT mutation, treated with avapritinib (BLU-285) - a highly potent and selective oral kinase inhibitor designed to treat imatinib-resistant gastro-intestinal stromal tumors (GIST) by targeting KIT/PDGFRα activation loop mutants (exons 17/18). After failure of the combination of ipilimumab + nivolumab first and then nivolumab alone, the patient received avapritinib 300 mg/daily for central nervous system (CNS), lymph-nodal, right adrenal gland, lung, and subcutaneous metastases. Best response was partial remission, according to RECIST 1.1 criteria. Time to treatment progression was 11 months. Main toxicities were grade 2 cutaneous vasculitis that required avapritinib discontinuation, and grade 2 uveitis of unknown origin, treated by vitrectomy and empiric antibiotic and antiviral therapy due to negative cultural tests. Uveitis was detected at the time of progression and therapy was definitively discontinued. In conclusion, avapritinib proved to be effective even in the presence of a pretreated disease, a high tumor burden, and brain metastases. In our experience, treatment was feasible and toxicity manageable. Considering the lack of effective therapies and the poor outcome of the disease, determination of c-KIT mutations should be performed routinely in cases of metastatic mucosal melanoma.
PubMed: 32821296
DOI: 10.1177/1758835920946158 -
Medicine May 2024The human papillomavirus (HPV) belongs to the Papillomaviridae family of viruses which includes small, double-stranded DNA viral agents. Approximately 90% of HPV... (Review)
Review
The human papillomavirus (HPV) belongs to the Papillomaviridae family of viruses which includes small, double-stranded DNA viral agents. Approximately 90% of HPV infections occur asymptomatically and resolve spontaneously. However, infection with high-risk viral strains can lead to the development of preneoplastic lesions, with an increased propensity to become cancerous. The location of these malignancies includes the oral cavity, cervix, vagina, anus, and vulva, among others. The role of HPV in carcinogenesis has already been demonstrated for the aforementioned neoplasia. However, regarding skin malignancies, the mechanisms that pinpoint the role played by HPV in their initiation and progression still elude our sight. Until now, the only fully understood mechanism of viral cutaneous oncogenesis is that of human herpes virus 8 infection in Kaposi sarcoma. In the case of HPV infection, however, most data focus on the role that beta strains exhibit in the oncogenesis of cutaneous squamous cell carcinoma (cSCC), along with ultraviolet radiation (UVR) and other environmental or genetic factors. However, recent epidemiological investigations have highlighted that HPV could also trigger the onset of other non-melanocytic, for example, basal cell carcinoma (BCC), and/or melanocytic skin cancers, for example, melanoma. Herein, we provide an overview of the role played by HPV in benign and malignant skin lesions with a particular focus on the main epidemiological, pathophysiological, and molecular aspects delineating the involvement of HPV in skin cancers.
Topics: Humans; Skin Neoplasms; Papillomavirus Infections; Papillomaviridae; Carcinoma, Squamous Cell; Carcinoma, Basal Cell; Melanoma; Human Papillomavirus Viruses
PubMed: 38787972
DOI: 10.1097/MD.0000000000038202 -
Medicina (Kaunas, Lithuania) Nov 2021A 80-year-old woman underwent vulvar melanoma resection and segmental lung resection for pulmonary metastasis. Immunotherapy with Nivolumab was performed. One year...
A 80-year-old woman underwent vulvar melanoma resection and segmental lung resection for pulmonary metastasis. Immunotherapy with Nivolumab was performed. One year later, the patient was admitted for gastrointestinal (GI) recurrent bleeding and severe anemia. Esophagoastroduodenoscopy and colonoscopy did not show any abnormality, while videocapsule endoscopy (VCE) revealed an irregular and exophytic whitish area with a "coal-black" central depression. Small bowel resection was performed and histological examination revealed S100 protein strongly positive melanoma metastasis. The patient died six months later from disease progression. A "coal-black" appearance of intestinal metastatic melanoma has been described only twice before this report. In one case the patient had been treated by immunotherapy with interferon A and dendritic cell-based vaccination. In our patient, it is presumable that the picture we observed was a consequence of Nivolumab treatment inducing the disappearance of melanocytes in the area surrounding the metastasis with the onset of the central coal-black lesion encircled by whitish tissue. This picture should be emblematic of intestinal metastatic melanoma in subjects treated with immunotherapy showing occult/obscure bleeding.
Topics: Aged, 80 and over; Capsule Endoscopy; Coal; Female; Humans; Intestine, Small; Melanoma; Neoplasm Recurrence, Local
PubMed: 34946258
DOI: 10.3390/medicina57121313 -
Turkish Journal of Obstetrics and... Mar 2020Malignant melanoma of the genital tract comprises 3% of all melanomas afflicting females. They are characterized by poor prognosis with 5-year survival of 0-25% and high...
OBJECTIVE
Malignant melanoma of the genital tract comprises 3% of all melanomas afflicting females. They are characterized by poor prognosis with 5-year survival of 0-25% and high incidence for distant metastasis. This study was performed to assess various clinical features, treatment options, and thre management of genital melanomas.
MATERIALS AND METHODS
This was a retrospective analysis where records of patients with genital melanomas between 2005 to 2018 were reviewed to obtain demographic and clinical information, including age of diagnosis, presenting symptoms, performance status, pathology reports, treatment, follow-up, and survival.
RESULTS
Between 2005 and 2018, 31 women were analyzed. The median age was 53.5 (range: 28.5-85) years. Vaginal bleeding was the most common presenting symptom (80.6%), followed by discharge (29%), mass in the vagina/perineum (19.3%), pain (16.1%), and difficulty in micturition (9.6%). The most common site of origin was the vagina (67.7%), followed by that vulva (19.3%) and cervix (12.9%). Tumor diameter was more than 3 cm in 74.2% (23/31). Out of 31 patients, only 16 opted for treatment. Four patients underwent surgery, 10 received primary chemotherapy, and two needed palliative radiotherapy for heavy bleeding. The median survival in the treatment group was 5 (range: 2.5-28) months, almost similar to patients not receiving any treatment (5 months, range: 2-11).
CONCLUSION
Genital melanoma are rare but aggressive tumors. Diagnosis is usually made with biopsy. No effective treatment strategy is yet available. However, surgery is the preferred first- line treatment, radiotherapy and chemotherapy have been used in adjuvant settings.
PubMed: 32341830
DOI: 10.4274/tjod.galenos.2020.44789 -
American Journal of Obstetrics and... Apr 2023
Topics: Female; Humans; Immune Checkpoint Inhibitors; Dermatitis; Skin Diseases; Vulva; Vulvar Diseases; Vulvar Neoplasms
PubMed: 36084703
DOI: 10.1016/j.ajog.2022.08.052 -
MedComm - Oncology Jun 2024Infectious etiologies have previously been proposed as causes of both melanoma and non-melanoma skin cancer. This exploratory overview explains and presents the evidence...
Infectious etiologies have previously been proposed as causes of both melanoma and non-melanoma skin cancer. This exploratory overview explains and presents the evidence for the hypothesis that a microorganism excreted in infected ruminant animal feces, subspecies (MAP), is the cause of some cases of cutaneous melanoma (CM). Occupational, residential, and recreational contact with MAP-contaminated feces, soil, sand, and natural bodies of water may confer a higher rate of CM. Included in our hypothesis are possible reasons for the differing rates and locations of CM in persons with white versus nonwhite skin, why CM develops underneath nails and in vulvar skin, why canine melanoma is an excellent model for human melanoma, and why the Bacille Calmette-Guérin (BCG) vaccine has demonstrated efficacy in the prevention and treatment of CM. The pathogenic mechanisms and etiologic aspects of MAP, as a transmittable agent underlying CM risk, are carefully deliberated in this paper. Imbalances in gut and skin bacteria, genetic risk factors, and vaccine prevention/therapy are also discussed, while acknowledging that the evidence for a causal association between MAP exposure and CM remains circumstantial.
PubMed: 38831791
DOI: 10.1002/mog2.72 -
Current Oncology (Toronto, Ont.) Oct 2021Primary mucosal melanomas of the female genital tract account for one percent or less of all cases of melanoma with even fewer originating in the clitoris. Given the... (Review)
Review
Primary mucosal melanomas of the female genital tract account for one percent or less of all cases of melanoma with even fewer originating in the clitoris. Given the rarity of diagnosis of clitoral melanoma, there is a paucity of data guiding management. There is no supporting evidence that radical vulvectomy (with or without inguinal lymphadenopathy) is associated with improved disease-free or overall survival compared to partial vulvectomy or wide local excision. Additionally, there is no data to evaluate the role of sentinel lymph node biopsy or extensive lymphadenectomy in clitoral melanoma, however previous evidence demonstrates the utility of regional lymph node sampling in predicting survival in women with female genital tract mucosal melanoma. Adjuvant therapy considerations are often extrapolated from their use in treating cutaneous melanomas, including immune checkpoint inhibitors and other immunotherapy agents. Adjuvant radiation therapy has limited utility except in cases of bulky, unresectable disease, or when inguinal lymph nodes are positive for metastasis. The 52 year-old patient presented in this review was diagnosed with locally invasive advanced stage clitoral melanoma presenting as an exophytic clitoral mass. She underwent diagnostic primary tumor resection, which demonstrated ulcerative melanoma with spindle cell features extending to a Breslow depth of at least 28 mm. She subsequently underwent secondary wide local excision with groin sentinel lymph node biopsy, and adjuvant treatment with pembrolizumab. This article also emphasizes the importance of a multidisciplinary team involving gynecologic oncology, medical oncology, radiology, and pathology for management of this rare type of primary mucosal melanoma of the female genital tract.
Topics: Clitoris; Female; Humans; Lymphatic Metastasis; Melanoma; Middle Aged; Sentinel Lymph Node Biopsy; Skin Neoplasms
PubMed: 34898540
DOI: 10.3390/curroncol28060362 -
The Journal of International Medical... Nov 2020We herein describe the preoperative and postoperative clinical data of a patient with a rare case of vulvar malignant melanoma and discuss her clinical characteristics...
We herein describe the preoperative and postoperative clinical data of a patient with a rare case of vulvar malignant melanoma and discuss her clinical characteristics and prognosis. After surgical resection and immunotherapy, the patient's illness continued to worsen. She then received local vulvar radiotherapy. However, further treatment was discontinued because of intolerable complications of radiotherapy, and the patient died about 18 months postoperatively. Management of vulvar malignant melanoma is challenging. No unified, effective, and standardized diagnostic and treatment plan has been established for this disease. Surgery remains the primary treatment modality for locally resectable vulvar malignant melanoma. Radiation therapy and chemotherapy do not benefit survival. Encouragingly, however, immunotherapy and targeted therapy have shown clinical efficacy in metastatic vulvar malignant melanoma.
Topics: Combined Modality Therapy; Female; Humans; Immunotherapy; Melanoma; Skin Neoplasms; Vulvar Neoplasms
PubMed: 33203293
DOI: 10.1177/0300060520965398 -
International Journal of Surgery Case... Mar 2022Lipoblastoma-like tumors are rare tumors that can be confused with lipoblastomas and liposarcomas but have distinct characteristics. This tumor has previously been...
INTRODUCTION AND IMPORTANCE
Lipoblastoma-like tumors are rare tumors that can be confused with lipoblastomas and liposarcomas but have distinct characteristics. This tumor has previously been identified in the vulva of females, and recently in isolated cases of young males. Given its rarity, we present an instance of this tumor in an older man, demonstrating that this pathology is not limited to a specific age or sex, and surgeons and pathologists must be aware of it in their differential.
CASE PRESENTATION
A 58-year-old male presented for evaluation of an enlarging mass in his right gluteal cleft. Prior to referral for surgical evaluation, the patient underwent an ultrasound-guided biopsy of the mass. Histologically, the tumor was a low-grade cellular spindle cell neoplasm in a fibrous to myxoid stroma. Immunohistochemical and molecular workup ruled out several malignant mesenchymal neoplasms, including myxoid liposarcoma, dedifferentiated liposarcoma, melanoma, low-grade fibromyxoid sarcoma, and sarcomatoid carcinoma. The patient initially declined surgery, but the mass continued to grow, and excision was chosen given the uncertain pathology. The tumor was resected with negative margins and histologically characterized as a "lipoblastoma-like lesion", with features of a myxoid liposarcoma and spindle cell lipoma. Seven months post-resection, there were no signs of recurrence or metastasis.
CLINICAL DISCUSSION
Despite radiologic and pathologic similarities to malignant lipomatous tumors, lipoblastoma-like tumors are benign and have a good prognosis.
CONCLUSIONS
Clinicians should be aware of this entity despite its rarity as resection with negative margins is curative and may be needed to rule out more aggressive tumors.
PubMed: 35245849
DOI: 10.1016/j.ijscr.2022.106889