痣與黑色素瘤的BRAF基因突變
很多病人在簽切黑色素瘤手術同意書時,也會簽到這張BRAF基因突變檢測同意書。到底黑色素瘤跟BRAF基因突變有什麼關係呢?
1. 只有黑色素瘤有BRAF突變嗎?
不是的。事實上一般的痣>80%有BRAF突變,先天性黑色素痣>70%有NRAS基因突變。有沒有BRAF基因突變,跟是不是黑色素瘤是兩件事情。西方人的黑色素瘤約50%有BRAF基因突變
2. 東方人常見的肢端黑色素瘤(包括手掌腳掌及指/趾甲),最常見的突變型態是什麼?
跟一般黑色素瘤及其他的腫瘤相比,肢端黑色素瘤的突變量(tumor mutation burden)較少。15%有BRAF基因突變,15%有NRAS基因突變,15%有KIT基因突變。
可能因為突變量少,造成肢端黑色素瘤對免疫治療效果(anti-PD1抑制劑)不佳。日本Nakamura教授統計,肢端黑色素瘤對免疫治療反應率僅有16.6%。(手腳掌黑色素瘤21.1%,指甲黑色素瘤8.6%)
3. 為什麼我要做BRAF基因突變檢查? 要怎麼做?
用切下來的黑色素瘤檢體做基因突變檢查,工作天約十天。
若黑色素瘤有BRAF基因突變,在第三期(有淋巴結轉移)或第四期(遠端淋巴結或皮下,肺臟等其他器官轉移)的病人,可以用針對BRAF基因突變的標靶藥作為輔助治療。我們會建議雙標靶藥,對於增加無復發生存期有顯著幫助。
#肢端黑色素瘤
#BRAF基因突變
#黑色素瘤標靶藥
tumor burden 在 CheckCheckCin Facebook 的精選貼文
【治癌路】配合中醫治療雙管齊下
#中醫可補西醫治療之不足
#提升病人生活質素
#星期一踢走BlueMonday
患上惡性腫瘤首先要調整心態
當確診患上癌症或惡性腫瘤,首先要努力逼使自己保持冷靜,不要害怕,意氣用事或亂了分寸更有可能耽誤病情!確診後首當要做還是要與自己的家庭醫生或負責醫生分析當下狀況,再看下一步該做甚麼。現今醫學發達,治療方案一定會有,患者的最佳配合就是必須抱有開放思想與正面樂觀的態度,不要執著,要聽取醫生意見。有懷疑則多看多一兩位醫生收集意見,將有的路、對策都寫下來,再與家人或醫生商討適合自己意願的治療方案。
情緒對身體的無形影響很大,不建議自己一個面對,要與身邊人分憂。這個時候,更需要調整生活及飲食習慣,每天一杯米水養脾胃,養好自己身體準備迎戰。不要一味擔心着未發生的事宜,例如治療後的後遺症或電療或化療後的不適症狀如電療後會出現口腔潰爛、喉嚨痛等,以中醫角度來看可以清熱滋陰,飲用有清熱養陰、生津益胃功效的石斛粉沖水,緩解咽喉不適感。亦可以將米水沖粉製成加入大菜製成果凍,既有營養與飽肚又不會加重喉嚨不適。又例如部份病人接受化療後出現手腳麻痹,可以嘗試按摩及針灸穴位,配合具舒筋活絡的藥材外洗以紓緩症狀。如果同時接受中醫治療,建議主動向西醫提及,因為這樣雙方都可了解症狀及用藥情況,避免延誤病情之餘,更能配合發揮最大療效。
米水大菜糕
功效:健脾養胃,有助身體吸收營養,製成果凍方便喉嚨痛或咽喉不適人士食用。
材料:即沖朝米水粉1包、大菜絲10克、水1000毫升
做法:
1. 大菜絲洗淨剪碎,用水浸軟備用。
2. 將水煮滾,加入朝米水粉拌勻,加蓋焗20分鐘,隔走米渣後再加入大菜絲以文火煮至溶化。
3. 待米水大菜水稍微放涼後倒入容器中,放入雪櫃冷藏至凝固即成。
備註:可以加入適量冰糖煮溶調味。
Manage your emotions when faced with malignant tumor
When you are diagnosed with cancer or malignant tumors, you must first try to stay calm, don't be afraid, or you may worsen your illness if you are upset or in a mess. The first thing to do after a diagnosis is to analyze the current situation with your family doctor or doctor in charge, and then find out next steps. Medical development is advanced, and treatment options are available. The best cooperation for patients is to have an open mind and a positive attitude. Don't be stubborn and listen to the opinions of doctors. When you have doubts, see more doctors to collect second opinions, write down some paths and methods, and then discuss with your family or doctor about a treatment plan that suits your needs.
Emotions can have a large intangible effect on the body. It is not recommended to face the problem alone. You have to share the burden with those around you. At this time, it is even more necessary to adjust life and dietary habits, have a cup of rice water daily to strengthen the spleen and stomach, and prepare a healthy body to face the challenge. Do not worry about things that have not happened yet, such as after-treatment side effects or discomfort after radiation therapy or chemotherapy, such as mouth ulcers and sore throats after radiation therapy. From Chinese medicine perspective, you can clear heat and nourish yin. Drink dendrobium powder water that can clear heat and nourish yin, promote fluid production and nourish the stomach to relieve throat discomfort. It can also be made from rice water powder and added into agar to make jelly, which has nutrition and is filling without enhancing throat discomfort. Another example is the paralysis of hands and feet that occurs in some patients after receiving chemotherapy. You can try massage and acupuncture, and external washing with herbs to sooths muscles and relieve symptoms. If you are receiving Chinese Medicine treatment at the same time, it is recommended to inform Western medicine doctor, because both sides can understand the symptoms and medication situation, avoid worsening the illness, and can cooperate to achieve maximum benefit.
Rice water agar jelly
Effects: strengthens the spleen and stomach, helps the body absorb nutrients. Jelly is easy for people with sore throat or throat discomfort to eat.
Ingredients: 1 pack rice water powder, 10g of shredded agar, 1000ml water
Preparation:
1. Rinse agar and cut into pieces. Soak shredded agar until soft.
2. Boil water on high heat until boiling, add the rice water powder and mix well, cover and simmer for 20 minutes, remove the rice solid contents, and then add the shredded agar and cook on low heat until it melts.
3. Let the rice and agar water cool slightly, then pour it into a container, put it in the refrigerator and refrigerate until it solidifies.
Note: You can add the appropriate amount of rock sugar to cook until they melt for seasoning.
#男 #女 #我疲憊 #陰虛 #喉嚨痛
tumor burden 在 皮膚外科 王研人醫師 Facebook 的最佳解答
這次在米蘭WCD聽了很多場黑色素瘤的演講,也會在此陸續分享給大家。
黑色素瘤這幾年有許多新的突破,大方向上認為黑色素瘤應視為全身性疾病 (systemic disease),而不是影像(如電腦斷層或正子攝影)上看到轉移才算全身性疾病(就算是正子攝影,腫瘤也要累積到至少0.6公分才看得到)。但是tumor burden(腫瘤細胞量)對預後很有關,所以手術仍佔重要腳色。(之後會再討論)
黑色素瘤,西方人東方人差很大!
黑色素瘤是個差異性相當大的疾病,西方人最常見的是光日照部位的黑色素瘤(superficial spreading melanoma,佔63%),而東方人常見的肢端黑色素瘤(acral melanoma),在西方人僅佔1%。
東方人最常見的是肢端黑色素瘤,佔了47%,其中包括10%的指甲黑色素瘤(subungual melanoma)。而有的日本研究發現黏膜的黑色素瘤(mucosal melanoma,如唇,鼻腔,陰道)佔了近三成。
不只位置不同,腫瘤突變,特性也都不一樣。
由西方人制定的治療準則(NCCN guideline),適用在東方人嗎? 日本的Nakamura教授提出了質疑。
哪些地方不適用?
1. 手術的切除範圍。肢端的黑色素瘤常有臨床甚至皮鏡都看不出來的腫瘤侵犯(subclinical spreading) 因此用NCCN治療準則的切除範圍(1cm, 2cm) 常不夠。
2. 肢端的黑色素瘤,用現在最紅的免疫治療,anti-PD-1 immunotherapy 如nivolumab保疾伏或pembrolizumab(keytruda®吉舒達),效果好嗎?
目前FDA核可免疫治療用於第四期,用於第三期有淋巴轉移病人的輔助治療(adjuvant therapy)初步結果已經快出來了,之後會討論。
anti-PD-1對於白人一般黑色素瘤的整體反應率有近三成,
合併nivolumab及ipilimumab用於晚期黑色素瘤(avanced melanoma),雖然副作用率高,但四年的整體存活率高達53%,單用nivolumab也有46%,堪稱黑色素治療的新氣象
(Phase 3 CheckMate -067 clinical trial, 目前追蹤時間最久的)
但在Nakamura教授研究的193位亞洲肢端晚期黑色素瘤指病人中,指甲黑色素瘤病人反應率(overall response)僅有8.6%,手腳掌21.1%,整體而言肢端黑色素瘤的反應率只有16.6%,令人失望。這跟肢端黑色素瘤的突變特性有關,之後也會討論。所以用在美國副總卡特的奇蹟,不一定會在東方人發生。
免疫治療價格昂貴,一個月就要幾百萬,如果效果僅約兩成,這是病人需要考量的。我也有病人是手指黑色素瘤轉移到腋下淋巴結及肺,對免疫治療效果非常好且沒什麼副作用,但目前還沒有好的biomarker可以事前預估那些病人效果會比較好。
#皮膚外科
#黑色素瘤
#免疫治療