The spectrum of oncogene mutations differs among melanoma subtypes

Мазуренко, Н. Н.; Цыганова, И В; Лушникова, А. А.; Понкратова, Д. А.; Анурова, О. А.; Ea, Cheremushkin; Михайлова, И. Н.; Демидов, Лев В.

doi:10.1134/s0026893315060163

Cited by 5 publications

(3 citation statements)

References 23 publications

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“…NGS performed in mucosal melanoma has revealed genetic alterations, affecting cell adhesion and focal adhesion along with enhanced signalling activity by MAPK and PI3K pathways . Studies suggest that the KIT gene, encoding a receptor tyrosine kinase signalling through RAS, PI3K, and MAPK, is altered in 7–50% of mucosal melanomas . Surprisingly, we found no KIT mutations in the present study.…”

Section: Discussioncontrasting

confidence: 70%

Primary and secondary mucosal melanoma of the small intestine – a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014

Tingsgaard

Henriksen

Mikkelsen

et al. 2018

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The aim of this study was to describe the epidemiology, symptomatology, pathology, genetics, and treatment of primary and metastatic small intestine melanoma in a national Danish cohort. All Danish patients diagnosed with small intestinal melanoma during the period 1980-2014 were included. For each patient, clinical data along with available pathology report and tissue was registered. Targeted next-generation sequencing (NGS) of known hotspots in 50 oncogenic genes was performed. Twenty patients with small intestinal melanoma were retrieved. Eight of these were primary melanomas. The median age was 66 years for primary melanoma patients and 58 years for secondary melanoma patients. The male/female ratio (M/F) was 3:1 for primary melanoma and 1:1 for secondary melanoma. The median time of survival was 3.5 months and 9 months for primary and secondary melanoma patients, respectively. NGS of primary tumours showed polymorphisms in the HRAS, PI3KCA, and JAK3 genes. Primary mucosal melanoma of the small intestines is a very rare disease, with an incidence of 0.04 cases/million/year in Denmark. Patients aged 59-70 years with abdominal symptoms should make the clinician consider a small bowel melanoma as a differential diagnosis. The prognosis ranged from less than a month to 183.6 months.

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Section: Discussioncontrasting

confidence: 70%

Primary and secondary mucosal melanoma of the small intestine – a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014

Tingsgaard

Henriksen

Mikkelsen

et al. 2018

APMIS

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“…Az acralis melanoma kialakulásának esetén, Liu és mtsai vizsgálatai alapján az UV sugárzás kóroki szerepe megkérdőjelezhetőnek bizonyult, valószínűleg nyálkahártya-eredetű melanoma esetén sem játszik szerepet a kialakulásban [5]. A mucosalis melanoma molekuláris genetikai hátteréről viszonylag kevés információval rendelkezünk, azonban Spencer és mtsai, valamint más szerzők is megfigyelték a BRAF onkogén mutáció alacsonyabb és a KIT protoonkogén magasabb előfordulását [6,7]. Sem örökletes, sem jellegzetes környezeti tényezőket nem észleltek a húgycsőeredetű melanoma esetében [8].…”

Section: Eredeti Közleményunclassified

Urogenitalis lokalizációjú mucosamelanoma primer és áttétes esetei klinikánkon

et al. 2019

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Introduction: Both primary and metastatic cases of mucosal melanoma in urogenital localization are rare tumors. Only 4–5% of all primary melanomas do not arise from the skin. Extracutaneous melanomas have a complex clinical presentation, but these aggressive tumors have a poor prognosis. Materials and method: In our department, we found 7 patients with malignant melanoma of the genitourinary tract in the past few years. The 7 cases were: primary amelanotic melanoma of the female urethra, a primary melanoma of the bladder, two primary melanomas of the penis, a metastatic melanoma of the urethra and another to the testis and a metastatic melanoma of the bladder with melanuria. We retrospectively analyzed the available data to describe the presentation, management, and clinical outcome of the patients. Results: In the three inoperative cases, palliative, urologic surgical procedures and systemic antitumor therapy were performed. Two of the four primary urogenital tumors were localized to the penis. In one case, local recurrence developed after surgical treatment, but with a radical, repeated surgery, the patient has been asymptomatic for a year and a half. In the other, neglected case, the penis melanoma spread through the urethra and the inguinal lymph nodes two years after radical surgery and inguinal block dissection. In the female primary urethral melanoma case, the first histological study reported a primary mesenchymal tumor, and the recurrent tumor that occurred one and a half years later showed melanoma diagnosis. Radical surgery performed because of urethral involvement resulted in a 5-year asymptomatic state, followed by local recurrence and distant metastasis. In the fourth case of a primary bladder melanoma, the rapid progression of the disease and the BRAF positivity of the tumor suggested that not the firstly diagnosed bladder melanoma was the primary tumor. Conclusion: The occurrence of urinary tract melanoma is very rare and its discovery happens often in a disseminated state, so the expected prognosis of the cases is also poor. The most important factors for increasing therapeutic efficacy are early diagnosis and radical surgical intervention. Tumors appearing in different localizations require different urological surgical approaches. The literature recommendations for treatment are not uniform. Their prognosis is worse compared to the cutaneous melanoma, which may be due to clinical and pathological diagnostic difficulties. The latest targeted and immunotherapeutic agents can significantly improve the survival of metastatic patients. Orv Hetil. 2019; 160(10): 378–385.

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“…Препараты ДНК получали с помощью протеиназы К (Novagen, США) из опухолевых клеток, собранных в результате макродиссекции депарафинизированных срезов опухолевых биопсий. Анализ мутаций выполняли с помощью полимеразной цепной реакции (ПЦР) с праймерами к «горячим точкам» генов GNAQ и GNA11 (экзоны 5 и 4), KIT (экзоны 11, 13 и 17), BRAF (экзон 15) и NRAS (экзоны 2 и 3)[18,19]. После разделения в агарозном геле ПЦР-продукты выделяли с использованием набора Wizard ® PCR Preps DNA Purification System (Promega, США) и секвенировали по Cэнгеру на ABI PRISM 3100-Avant с помощью реактивов ABI PRISM ® BigDye™ Terminator Vol.…”

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Molecular and genetic diversity in melanoma of eye

et al. 2018

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Background. Ocular melanoma is the most common cancer of adult eye and is represented by two main subtypes of uveal (UM) and conjunctival (CM) melanoma with distinct clinical (frequency, localization, histology) and genomic features. The objective is to compare molecular and genetic characteristics of tumors in patients with melanoma of the eye. Materials and methods. In this study molecular profiling of 78 tumors including 73 UM (choroidea, ciliar body and iris) and 5 СM, was evaluated. DNA was isolated from tumor cells collected by macrodissection of FEPE sections of tumor biopsies using proteinase K. The following genes were studied by Sanger sequencing: GNAQ, GNA11, KIT, BRAF, NRAS. Results. Mutations in GNAQ and GNA11 were found in 81 % (59/73) of UM, in 42 % (31/73) and 38 % (28/73) of cases correspondently. GNAQ mutations were more frequent in primary UM (63 %), while GNA11 mutations dominated in metastatic UM (42 %). There was а correlation between frequency of GNAQ/GNA11 mutations and histologic type of UM. GNAQ mutations were identified in 55 % of spindle cell UM, while GNA11 mutations were more frequent in epithelioid cell UM (42 %). There were no differences in frequency of GNAQ/GNA11 mutations in UM of patients of different age (younger and elder 50 years). There was no statistically difference in UM patient outcome with GNAQ or GNA11 mutations. We also detected 3 UM with KIT mutations and 2 UM with BRAF mutations. There was no big difference in frequency of «driver mutations» in UM of choroidea, ciliar body and iris. Molecular profiling of conjunctival melanoma (CM) resembles that of cutaneous melanoma of skin: in 3 (60 %) CM BRAF V600E was identified and in 1 (20 %) – NRAS Q61K. Conclusion. Genetic analysis reveals wide diversity of melanoma of eye and is important for it characterization and treatment.

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The spectrum of oncogene mutations differs among melanoma subtypes

Cited by 5 publications

References 23 publications

Primary and secondary mucosal melanoma of the small intestine – a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014

Primary and secondary mucosal melanoma of the small intestine – a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014

Urogenitalis lokalizációjú mucosamelanoma primer és áttétes esetei klinikánkon

Molecular and genetic diversity in melanoma of eye

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