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Mutational profiling of acral melanomas in Korean populations
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| Zeitschriftentitel: | Experimental Dermatology |
|---|---|
| Personen und Körperschaften: | , , , , , , , , |
| In: | Experimental Dermatology, 26, 2017, 10, S. 883-888 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Shim, Joon Ho Shin, Hyun‐Tae Park, Jiho Park, Ji‐Hye Lee, Jong‐Hee Yang, Jun‐Mo Kim, Duk‐Hwan Jang, Kee‐Taek Lee, Dong‐Youn Shim, Joon Ho Shin, Hyun‐Tae Park, Jiho Park, Ji‐Hye Lee, Jong‐Hee Yang, Jun‐Mo Kim, Duk‐Hwan Jang, Kee‐Taek Lee, Dong‐Youn |
|---|---|
| author |
Shim, Joon Ho Shin, Hyun‐Tae Park, Jiho Park, Ji‐Hye Lee, Jong‐Hee Yang, Jun‐Mo Kim, Duk‐Hwan Jang, Kee‐Taek Lee, Dong‐Youn |
| spellingShingle |
Shim, Joon Ho Shin, Hyun‐Tae Park, Jiho Park, Ji‐Hye Lee, Jong‐Hee Yang, Jun‐Mo Kim, Duk‐Hwan Jang, Kee‐Taek Lee, Dong‐Youn Experimental Dermatology Mutational profiling of acral melanomas in Korean populations Dermatology Molecular Biology Biochemistry |
| author_sort |
shim, joon ho |
| spelling |
Shim, Joon Ho Shin, Hyun‐Tae Park, Jiho Park, Ji‐Hye Lee, Jong‐Hee Yang, Jun‐Mo Kim, Duk‐Hwan Jang, Kee‐Taek Lee, Dong‐Youn 0906-6705 1600-0625 Wiley Dermatology Molecular Biology Biochemistry http://dx.doi.org/10.1111/exd.13321 <jats:title>Abstract</jats:title><jats:p>The proportion of acral melanoma (<jats:styled-content style="fixed-case">AM</jats:styled-content>) is much higher in Asian populations than in Caucasian populations. Although mutational profiles associated with <jats:styled-content style="fixed-case">AM</jats:styled-content> have been discovered in Caucasian populations, knowledge of its genetic alterations in Asian populations is limited. To describe the molecular nature of <jats:styled-content style="fixed-case">AM</jats:styled-content> in Korean patients, we performed mutational profiling of <jats:styled-content style="fixed-case">AM</jats:styled-content> and matched normal tissues in patients. Fifty‐one formalin‐fixed paraffin‐embedded <jats:styled-content style="fixed-case">AM</jats:styled-content> samples and 32 matched pairs from patients’ saliva <jats:styled-content style="fixed-case">DNA</jats:styled-content> were analysed by next‐generation sequencing. Only mutations confirmed via digital droplet <jats:styled-content style="fixed-case">PCR</jats:styled-content> or in <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> KIT</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">NRAS</jats:styled-content>,</jats:italic> the most frequently altered cancer genes in cutaneous melanoma, were considered as positive. The relationship between mutational status and clinicopathological features were examined. Of the 47 <jats:styled-content style="fixed-case">AM</jats:styled-content> patients screened, alteration of <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> genes was observed in 6.4%, 4.3% and 8.5%, respectively. We also tested matched normal tissues of patients to identify tumor‐specific mutations. Examination of the mutational profile in a cohort of 28 primary melanomas and matched normal controls found <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content></jats:italic> mutations in two cases (7.1%), <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> mutations in three cases (10.7%) and <jats:italic><jats:styled-content style="fixed-case">CTNNB</jats:styled-content>1</jats:italic> mutations in one case (3.6%). The <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> mutation status did not correlate with clinicopathological characteristics. Our results show that <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content></jats:italic> hotspot mutations occur at a low frequency in Korean populations. We also observed a case with the <jats:italic><jats:styled-content style="fixed-case">CTNNB</jats:styled-content>1</jats:italic> mutation, which raises the possibility that other pathways are associated with <jats:styled-content style="fixed-case">AM</jats:styled-content> development.</jats:p> Mutational profiling of acral melanomas in Korean populations Experimental Dermatology |
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10.1111/exd.13321 |
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Medizin Biologie Chemie und Pharmazie |
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Wiley, 2017 |
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0906-6705 1600-0625 |
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2017 |
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Wiley |
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ai |
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ai |
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Experimental Dermatology |
| source_id |
49 |
| title |
Mutational profiling of acral melanomas in Korean populations |
| title_unstemmed |
Mutational profiling of acral melanomas in Korean populations |
| title_full |
Mutational profiling of acral melanomas in Korean populations |
| title_fullStr |
Mutational profiling of acral melanomas in Korean populations |
| title_full_unstemmed |
Mutational profiling of acral melanomas in Korean populations |
| title_short |
Mutational profiling of acral melanomas in Korean populations |
| title_sort |
mutational profiling of acral melanomas in korean populations |
| topic |
Dermatology Molecular Biology Biochemistry |
| url |
http://dx.doi.org/10.1111/exd.13321 |
| publishDate |
2017 |
| physical |
883-888 |
| description |
<jats:title>Abstract</jats:title><jats:p>The proportion of acral melanoma (<jats:styled-content style="fixed-case">AM</jats:styled-content>) is much higher in Asian populations than in Caucasian populations. Although mutational profiles associated with <jats:styled-content style="fixed-case">AM</jats:styled-content> have been discovered in Caucasian populations, knowledge of its genetic alterations in Asian populations is limited. To describe the molecular nature of <jats:styled-content style="fixed-case">AM</jats:styled-content> in Korean patients, we performed mutational profiling of <jats:styled-content style="fixed-case">AM</jats:styled-content> and matched normal tissues in patients. Fifty‐one formalin‐fixed paraffin‐embedded <jats:styled-content style="fixed-case">AM</jats:styled-content> samples and 32 matched pairs from patients’ saliva <jats:styled-content style="fixed-case">DNA</jats:styled-content> were analysed by next‐generation sequencing. Only mutations confirmed via digital droplet <jats:styled-content style="fixed-case">PCR</jats:styled-content> or in <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> KIT</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">NRAS</jats:styled-content>,</jats:italic> the most frequently altered cancer genes in cutaneous melanoma, were considered as positive. The relationship between mutational status and clinicopathological features were examined. Of the 47 <jats:styled-content style="fixed-case">AM</jats:styled-content> patients screened, alteration of <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> genes was observed in 6.4%, 4.3% and 8.5%, respectively. We also tested matched normal tissues of patients to identify tumor‐specific mutations. Examination of the mutational profile in a cohort of 28 primary melanomas and matched normal controls found <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content></jats:italic> mutations in two cases (7.1%), <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> mutations in three cases (10.7%) and <jats:italic><jats:styled-content style="fixed-case">CTNNB</jats:styled-content>1</jats:italic> mutations in one case (3.6%). The <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> mutation status did not correlate with clinicopathological characteristics. Our results show that <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content></jats:italic> hotspot mutations occur at a low frequency in Korean populations. We also observed a case with the <jats:italic><jats:styled-content style="fixed-case">CTNNB</jats:styled-content>1</jats:italic> mutation, which raises the possibility that other pathways are associated with <jats:styled-content style="fixed-case">AM</jats:styled-content> development.</jats:p> |
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| author | Shim, Joon Ho, Shin, Hyun‐Tae, Park, Jiho, Park, Ji‐Hye, Lee, Jong‐Hee, Yang, Jun‐Mo, Kim, Duk‐Hwan, Jang, Kee‐Taek, Lee, Dong‐Youn |
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| description | <jats:title>Abstract</jats:title><jats:p>The proportion of acral melanoma (<jats:styled-content style="fixed-case">AM</jats:styled-content>) is much higher in Asian populations than in Caucasian populations. Although mutational profiles associated with <jats:styled-content style="fixed-case">AM</jats:styled-content> have been discovered in Caucasian populations, knowledge of its genetic alterations in Asian populations is limited. To describe the molecular nature of <jats:styled-content style="fixed-case">AM</jats:styled-content> in Korean patients, we performed mutational profiling of <jats:styled-content style="fixed-case">AM</jats:styled-content> and matched normal tissues in patients. Fifty‐one formalin‐fixed paraffin‐embedded <jats:styled-content style="fixed-case">AM</jats:styled-content> samples and 32 matched pairs from patients’ saliva <jats:styled-content style="fixed-case">DNA</jats:styled-content> were analysed by next‐generation sequencing. Only mutations confirmed via digital droplet <jats:styled-content style="fixed-case">PCR</jats:styled-content> or in <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> KIT</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">NRAS</jats:styled-content>,</jats:italic> the most frequently altered cancer genes in cutaneous melanoma, were considered as positive. The relationship between mutational status and clinicopathological features were examined. Of the 47 <jats:styled-content style="fixed-case">AM</jats:styled-content> patients screened, alteration of <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> genes was observed in 6.4%, 4.3% and 8.5%, respectively. We also tested matched normal tissues of patients to identify tumor‐specific mutations. Examination of the mutational profile in a cohort of 28 primary melanomas and matched normal controls found <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content></jats:italic> mutations in two cases (7.1%), <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> mutations in three cases (10.7%) and <jats:italic><jats:styled-content style="fixed-case">CTNNB</jats:styled-content>1</jats:italic> mutations in one case (3.6%). The <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> mutation status did not correlate with clinicopathological characteristics. Our results show that <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content></jats:italic> hotspot mutations occur at a low frequency in Korean populations. We also observed a case with the <jats:italic><jats:styled-content style="fixed-case">CTNNB</jats:styled-content>1</jats:italic> mutation, which raises the possibility that other pathways are associated with <jats:styled-content style="fixed-case">AM</jats:styled-content> development.</jats:p> |
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| spelling | Shim, Joon Ho Shin, Hyun‐Tae Park, Jiho Park, Ji‐Hye Lee, Jong‐Hee Yang, Jun‐Mo Kim, Duk‐Hwan Jang, Kee‐Taek Lee, Dong‐Youn 0906-6705 1600-0625 Wiley Dermatology Molecular Biology Biochemistry http://dx.doi.org/10.1111/exd.13321 <jats:title>Abstract</jats:title><jats:p>The proportion of acral melanoma (<jats:styled-content style="fixed-case">AM</jats:styled-content>) is much higher in Asian populations than in Caucasian populations. Although mutational profiles associated with <jats:styled-content style="fixed-case">AM</jats:styled-content> have been discovered in Caucasian populations, knowledge of its genetic alterations in Asian populations is limited. To describe the molecular nature of <jats:styled-content style="fixed-case">AM</jats:styled-content> in Korean patients, we performed mutational profiling of <jats:styled-content style="fixed-case">AM</jats:styled-content> and matched normal tissues in patients. Fifty‐one formalin‐fixed paraffin‐embedded <jats:styled-content style="fixed-case">AM</jats:styled-content> samples and 32 matched pairs from patients’ saliva <jats:styled-content style="fixed-case">DNA</jats:styled-content> were analysed by next‐generation sequencing. Only mutations confirmed via digital droplet <jats:styled-content style="fixed-case">PCR</jats:styled-content> or in <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> KIT</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">NRAS</jats:styled-content>,</jats:italic> the most frequently altered cancer genes in cutaneous melanoma, were considered as positive. The relationship between mutational status and clinicopathological features were examined. Of the 47 <jats:styled-content style="fixed-case">AM</jats:styled-content> patients screened, alteration of <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> genes was observed in 6.4%, 4.3% and 8.5%, respectively. We also tested matched normal tissues of patients to identify tumor‐specific mutations. Examination of the mutational profile in a cohort of 28 primary melanomas and matched normal controls found <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content></jats:italic> mutations in two cases (7.1%), <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> mutations in three cases (10.7%) and <jats:italic><jats:styled-content style="fixed-case">CTNNB</jats:styled-content>1</jats:italic> mutations in one case (3.6%). The <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content></jats:italic> mutation status did not correlate with clinicopathological characteristics. Our results show that <jats:italic><jats:styled-content style="fixed-case">KIT</jats:styled-content>,<jats:styled-content style="fixed-case"> NRAS</jats:styled-content></jats:italic> and <jats:italic><jats:styled-content style="fixed-case">BRAF</jats:styled-content></jats:italic> hotspot mutations occur at a low frequency in Korean populations. We also observed a case with the <jats:italic><jats:styled-content style="fixed-case">CTNNB</jats:styled-content>1</jats:italic> mutation, which raises the possibility that other pathways are associated with <jats:styled-content style="fixed-case">AM</jats:styled-content> development.</jats:p> Mutational profiling of acral melanomas in Korean populations Experimental Dermatology |
| spellingShingle | Shim, Joon Ho, Shin, Hyun‐Tae, Park, Jiho, Park, Ji‐Hye, Lee, Jong‐Hee, Yang, Jun‐Mo, Kim, Duk‐Hwan, Jang, Kee‐Taek, Lee, Dong‐Youn, Experimental Dermatology, Mutational profiling of acral melanomas in Korean populations, Dermatology, Molecular Biology, Biochemistry |
| title | Mutational profiling of acral melanomas in Korean populations |
| title_full | Mutational profiling of acral melanomas in Korean populations |
| title_fullStr | Mutational profiling of acral melanomas in Korean populations |
| title_full_unstemmed | Mutational profiling of acral melanomas in Korean populations |
| title_short | Mutational profiling of acral melanomas in Korean populations |
| title_sort | mutational profiling of acral melanomas in korean populations |
| title_unstemmed | Mutational profiling of acral melanomas in Korean populations |
| topic | Dermatology, Molecular Biology, Biochemistry |
| url | http://dx.doi.org/10.1111/exd.13321 |