大晦日の日直

今日は大晦日だというのに、日直でかつ外科当番だった。というか外科当番なので小生やりたくもない日直をさせられたが、予想通りあっという間に終わった。忙しかった。本当に忙しかった。ノロもどきやインフルもどきが何人きたことか。今年のインフルエンザはA型が多い。外科当番だから切ったはったも多かったなあ。12月31日の夕方にリストカットを縫合するというのも寂しいものだが、それ以外にも普段やりなれない掃除や片付けをして怪我をする人が多いこと。またこの抜糸を一週間後というと、「今帰省中なので」という人も多いから、紹介状も多く書いたな。これだけ働いたので、良い年が迎えられそうだ。大晦日に夜勤する病棟のナース諸君はご苦労様だ。彼女たちに挨拶をして、さあ、家に帰ろう。

13cmの腎血管筋脂肪腫とエベロリムス

今入院中の患者に偶然13cmの腎血管筋脂肪腫があることがわかった。

無症状であるが、造影CT、MRI（脂肪抑制も含む）compatible であり、泌尿器科におみせしたところ画像上「確診」に近い診断を得た。 

小生、泌尿器にはみじんも縁がないが、外科的諸問題が解決するまでの入院期間内になにかしておくことはないかね。

 御本人には年が明けたら手術しましょうとは言っている。言っているがこれは泌尿器科の受け売りであるので、いくつか調べてみたが、よくわかったようなわからないような・・・・ 

1. 腎血管筋脂肪腫：4cmを越えたら出血の可能性があり、7cmを越えたら腫瘍塞栓術か手術による摘出の適応があるとされている。
    
2. 下の文献でみると10~20mmで見つかる腎血管筋脂肪腫が順調に発育し10cmを越えるまで育ちあがるわけではなさそうである（そんな観察例がこの観察期間ー結構長い期間ーで多く認められたわけではない）
3. 一方症例報告で「出血で見つかった巨大腎血管筋脂肪腫の一例」「自然破裂で見つかった巨大腎血管筋脂肪腫の一例」という一例報告は枚挙にいとまがない。
4. 小生の症例もいきなり13cmであり、これは破裂や出血の可能性があるのね。
5. 腎血管筋脂肪腫といえば国家試験的に言えば結節性硬化症（TSC）であるが、ベン図的にいえば結節性硬化症の50%に併存し、逆に腎血管筋脂肪腫を持つ患者の20%は結節性硬化症を併存するということだ。
6. さて小生、この患者殿に結節性硬化症があるかどうかを調べなくてはいけないのだろうか？意味があるのかしら？
7.  最近分子標的薬「エベロリムス」がこの腎血管筋脂肪腫に効果があるという結果が出た（ EXIST-2試験より ）という記事を読んだ（今朝読んだ）こんなマイナーな病気に薬があるんだといささか驚いている。結構効くのだそうだよ。
8. ところで EXIST-2試験は、TSCまたは孤発性LAM（sLAM）に伴う腎AML症例に対して、mTOR阻害剤エベロリムスの奏効率をプラセボと比較することを目的に実施された。というのがこまるなあ。
9. 小生の疑問はTSC1/2の変異の有無がこの薬 エベロリムスの効能と関係しているのかどうかということだ。
   
10. 元来エベロリムスというのはmTORという極めてへんてこな名前の分子の阻害薬なのだが、このmTORというのが今「売れっ子」なんですな。ちなみにmTORとTSC1/2の間にはAKTしかない。極めてお隣さんなのね。
     
11. なにかの理由で手術が出来ない場合、この患者にエベロリムス使えないのかしらね。これが小生の知りたいことだよ。

Title :	13. 群馬大学医学部附属病院泌尿器科における腎臓摘出術の変遷―1999年～2009年5月までの11年間の統計―
Subtitle :	第53回日本泌尿器科学会群馬地方会演題抄録
Authors :	牧野武朗1), 富田健介1), 横山由就1), 廣野正法1), 村松和道1), 新井誠二1), 森川泰如1), 宮久保真意1), 野村昌史1), 岡本亘平1), 小池秀和1), 松井博1), 柴田康博1), 羽鳥基明1), 伊藤一人1), 鈴木和浩1), 小林幹男2)
Authors (kana) :
Organization :	1)群馬大院・医・泌尿器科学, 2)伊勢崎市民病院泌尿器科
Journal :	THE KITAKANTO MEDICAL JOURNAL
Volume :	60
Number :	1
Page :	78 - 78
Year/Month :	2010 / 2
Article :	抄録
Publisher :	北関東医学会
Abstract :	今回, 1999年1月1日より2009年5月31日までの約11年間に施行した357例の腎臓摘出術式の検討を施行した. 年齢の中央値は64歳(5-91), 性別は男性239例, 女性118例であった. 原疾患は, 主に腎細胞癌226例, 腎孟癌53例, 尿管癌32例, 膀胱癌2例, 後腹膜腫瘍2例, 副腎癌1例などの悪性腫瘍であるが, 時に, 無機能腎の水腎症, 腎孟腎炎などの炎症性疾患16例, 腎血管筋脂肪腫8例, 腎損傷1例, その他9例であった. 検討の結果, 当科における腎臓摘出の手術総件数は2006年より飛躍的に増加おり, 増加分は鏡視下手術件数が増加していた. 2008年より鏡視下手術適応を拡大しており, 2009年には鏡視下手術件数が総件数の5割を超えると思われる. この詳細を検討して報告する.
Practice :	医学総合

☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆ ☆☆

151-3　健診で発見された腎血管筋脂肪腫 (AML) の追跡 

藤間病院総合健診システム1、日本医科大学泌尿器科2 

加治裕子1)、石川晃代1)、横川文江1)、小林京子1)、今井裕子1)、岸田浅美1)、藤間光行1)、萎沢利行1)、木全亮二2)、坪井成美2) 

【目的】健診で指摘された腎腫瘍か、泌尿器科外来にてCT検査を行い腎血管筋脂肪腫(以下AML)と診断され、その後も経過観察をしている。前回報告後の大きさ等の経年変化及びこの9年間に見つかったAMLについて検討した。 

【対象】

1. 前回報告した1990年から1999年の問にAMLと診断され現在まで経過観察している17例
2. 2000年から2009年8,月までに健診で腎腫瘍・腎腫瘍疑いを指摘されたもののうち、画像診断でAMLと考えられる45例、計62例を対象とした。 

【結果】

1. CT検査で脂肪成分か確認されAMLと診断された45例の初回の腫瘍径は10mm以上か18例、9mm以下か27例であった。
2. CT検査にて脂肪成分が確認されていない、もしくはCT検査を施行していない17例の初回の腫瘍径は、10mm以上が3例、9mm以下が14例であった。
3. 経年変化を追跡できた47例では、2mm以上の増減を増大群、縮小群とし、それ以外を変化なし群としたところ、増大群20例(43%)・変化なし群22例・(46%)・縮小群5例(11%)であった。その中で1例は11mm増大し20mmに描出されたか、エコーパターンに変化は無かった。
4. また、腫瘍の数の増加は、6例に認められた。AMLの男女比は1:4で、存在部位に左右差は認めなかった。 

【まとめ】

1. 経過観察可能であったAMLでは、増大群43%・変化なし群46%とやや増大傾向があると思われた。急に増大した時は精査が必要と考える。
2. AMLは、CT検査で脂肪成分が確認されれば確定診断できるので、確認後は年1回の経過観察で良いと考える。
3. CT検査を行っていない場合でも、女性で10mm以下の腫瘍であれは、大きさやエコーパターンの変化か見られないなら、当日面接で医師の指導のもとに年1回の経過観察でも良いと考える。

口腔内の腫瘍（腫瘍性変化）２題：NEJMのイメージ

NEJMのイメージで二週続けて口腔内の腫瘍（腫瘍性変化）が登場した。先週のものは希であろうから無視しようと思ったが、二週続くとメモしたくなる。今週のものはよく見るものだし。

それぞれなんであろうか
（１）45歳女性　5年で増大してきたという。

 （２）６歳女児　3週間で増大してきたという。

 

(1) 右の切除写真でお分かりのように脂肪腫である。ただ、切開幅が広すぎる、長過ぎるような気がする。皮膚科の先生なら「脂肪腫」とあたりがついているなら、もっと狭い小さな切開線で「もみだす」と思うが、如何？

Images in Clinical Medicine 
Lipoma of the Tongue 
Paolo Boffano, M.D., and Cesare Gallesio, M.D., D.D.S. 
N Engl J Med 2012; 367:e37December 20, 2012

(2) Ranulaである。当ブログには口唇粘液嚢胞のページがあるが、これがなぜか訪問者が多いのである。なぜだろう？

Images in Clinical Medicine 
Ranula 
Angela Hernandez-Martin, M.D., Ph.D., and Antonio Torrelo, M.D., Ph.D. 
N Engl J Med 2012; 367:e38December 27, 2012 

ーーーーーーーーーーーーーーーーーーーーーーーーーーーーーーーーーーーー

文房具のように時々耳にする目にする病名がある。
ranula、felon、pterygium等々
それぞれ「がま腫」「瘭疽」「翼状片」であるが、科が違うと全く覚えていないことは多い。それでも個人的には覚えておきたい病名・単語というものがあるのだな。

SYT–SSX遺伝子融合と滑膜肉腫の相関は100%??

融合遺伝子のなかで疾患関連性の高いもののひとつがSYT-SSX遺伝子融合である。発見当初は100%、今でも９割以上の滑膜肉腫に陽性であるという。ここまで高いと診断的価値も高いだろうな。特に滑膜肉腫が 珍しい場所にできる場合（肺、前立腺等々）は診断の一助になるものと考えられる。

N Engl J Med 1998; 338:153-160January 15, 1998

Original Article
SYT–SSX Gene Fusion as a Determinant of Morphology and Prognosis in Synovial Sarcoma

Akira Kawai, M.D., Ph.D., James Woodruff, M.D., John H. Healey, M.D., Murray F. Brennan, M.D., Cristina R. Antonescu, M.D., and Marc Ladanyi, M.D.

滑膜肉腫の形態および予後の決定因子としての SYT - SSX 遺伝子融合

SYT - SSX GENE FUSION AS A DETERMINANT OF MORPHOLOGY AND PROGNOSIS IN SYNOVIAL SARCOMA
Akira Kawai, and others

---

背　景	滑膜肉腫は軟 組織肉腫の 10%を占め，主に二つの組織学的サブタイプ，二相性および単相性があり，それぞれ紡錘腫瘍細胞のバックグラウンドにおける腺上皮分化のあるものとないも のと定義される．染色体転座 t ( X; 18 ) ( p11; q11 ) に由来する特徴的な SYT - SSX 融合遺伝子は，ほぼすべての滑膜肉腫で検出可能であった．転座により，第 18 染色体からの SYT 遺伝子は，Xp11での二つの非常に相同な遺伝子，すなわち SSX1 または SSX2 のいずれかと融合する．SYT - SSX1および SYT - SSX2 は，異常転写制御因子として機能するように思われる．われわれは，SYT - SSX 融合遺伝子の形がこの肉腫患者の腫瘍形態および臨床転帰に及ぼす影響を明らかにしようと試みた．
方　法	逆転写酵素ポリメラーゼ連鎖反応によって，滑膜肉腫 45 例 (単相性 33 人および二相性 12 人) の SYT - SSX 融合転写物を分析し，その結果を，関連する臨床および病理データと比較した．
結　果	SYT - SSX1 および SYT - SSX2 融合転写物はそれぞれ，腫瘍の 29 例 ( 64% ) および16 例 ( 36% ) に検出された．組織学的サブタイプ (二相性と単相性) と，融合転写物における SSX1 または SSX2 の関与とのあいだには有意な相関 ( p = 0.003 ) を認めた: 二相性の滑膜肉腫 12 例すべてが SYT - SSX1 融合転写物を有し，SYT - SSX2 陽性の腫瘍 16 例すべてが単相性であった．局所腫瘍を有する患者 39 人の Kaplan - Meier 法による分析では，SYT - SSX2 を有する患者 15 人は，SYT - SSX1 を有する患者 24 人より無転移生存率が有意に良好であることを示した (多変量解析により p = 0.03; 相対危険度，3.0 )．SYT - SSX 転写物のタイプと，年齢，性別，腫瘍の位置およびサイズ，診断時の転移の有無，または化学療法の有無，とのあいだには有意な相関を認めなかった．組織学的サブタイプ単独では予後的に重要ではなかった．
結　論	SYT -SSX 融合転写物のタイプは，滑膜肉腫の組織学的サブタイプおよび臨床症状のいずれとも相関する．SYT - SSX 融合転写物は滑膜肉腫の明確な診断マーカーであり，また重要な独立した予後情報を提供する可能性がある．

N Engl J Med 1998; 338 : 153 - 60  をその後引用した217編の論文群

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