chromatin remodeling factor ¥¯¥í¥Þ¥Á¥ó¥ê¥â¥Ç¥ê¥ó¥°°ø»Ò
SMARCB1(INI1)-deficient pleural sarcoma

ºîÀ®Ãæ

Case presentation µ¤¶»¤Çȯ¾É¤·¤¿SMARCA4-deficient thoracic sarcoma¤Î1Îã

IWT case 49 year-old male

Xǯ9·î±¦¼«Á³µ¤¶»¤Ç¶»¹Ð¶À²¼¥Ö¥éÀÚ½ü½Ñ»þ, ¶»Ëì¤Î¼ðáî¤òƱ»þ¤ËÀÚ½ü¤¹¤ë. plasmacytoid ¤Þ¤¿¤Ï rabdoid cell¤Î¤Ó¤Þ¤óÀ­Áý¿£¤ò¼¨¤¹¼ðáç.
·Úº¿¤¬¤ï¤º¤«¤ËÍÛÀ­¤È¤Ê¤ê, ºÇ½é plasmacytoma¤ÈDx¤µ¤ì¤¿¤¬Â¾¤Îmyeloma marker±¢À­, light chain PCR¤Ïnon-clonal¥Ñ¥¿¡¼¥ó¤Ç¤¢¤Ã¤¿.ÄɲäÎÌÈÀ÷¤Ç, vimentin, CD99(MIC2)ÍÛÀ­¡¢CD34, BCL2¤¬¤´¤¯°ìÉô¤ËÍÛÀ­¤Ê¤Éʬ²½ÉÔÌÀ¤ÎÆù¼ð.
5¥õ·î¸å±¦¼çµ¤´É»Ù¤ò°µÇ÷¤·¤Û¤È¤ó¤ÉÊĺɤ¹¤ëµðÂç¤Ê¼ðáç¤òǧ¤á¤¿. ¾±¡¤Ç¶ÛµÞÊü¼ÍÀþÎÅË¡¤ª¤è¤Ó²½³ØÎÅË¡¤ò¹Ô¤¦¤¬¸ú²Ì¤Ê¤·. ¼ðáçÀÚ½ü+±¦ÇÙ¾åÍÕÀÚ½ü¤ò¤ª¤³¤Ê¤¤Æù´ãŪ¤Ë¤Ï¼ðáç¤Ï´°Á´ÀÚ½ü¤Ç¤­¤¿. ÉÂÍý¿ÇÃǤÏÈóŵ·¿Åª¤Ç¤¢¤ë¤¬ malignant SFT. Åö±¡¤ËºÆÆþ±¡, radiation therapy¤ò¤ª¤³¤Ê¤¦. ¸ú²Ì˳¤·¤¯, ¼ðáç¤Ï¿Ê¹Ô¤·¸ÆµÛÉÔÁ´¤Ç±Ê̲¤µ¤ì¤ë.

pneumothoraxCT.jpg(59.1KB)preCT3-8-13.jpg(36.8KB)operation01.jpg(69.8KB)Op-pleura.jpg(63.0KB)
CT pneumothorax½Ä³Ö¼ðáî¤Ê¤·.½ÑÃæ¶»¹Ð¶À¼Ì¿¿Å¦½ÐɸËÜ
 
 

Êɦ¶»Ëì¼ðáîÀÚ½üɸËÜ ÉÂÍýÁÈ¿¥½ê¸«

pleuratumor01.jpg(107.4KB)pleuratumor02.jpg(127.9KB)Kob-TS0002.jpg(407.0KB)Kob-TS04.jpg(151.8KB)
pleura tumor loupeÁüpleura tumor x400:­¡pleura tumor x200¡§­¢pleura tumor x200¡§­£

ÉôʬŪ¤ËºÙ˦ÀÜÃåÀ­¤¬Ä㤯Á¤ÊÁÈ¿¥Áü¤òÄ褹¤ë.

­¡ rhabdoid cells¤¬Ì©¤ËÁý¿£¤¹¤ëÁÈ¿¥Áü. ³Ë¤ÏÎà±ß·Ávesicular¤Ç, Ãæ¿´À­¤ÎÂç·¿³Ë¾®ÂΤò1¸Ä¤â¤Ä.¡¡ºÙ˦¼Á¤Ï¹¥»ÀÀ­.
µå¾õ¤ÎÉõÆþÂÎÍͤˤߤ¨¤ë¹½Â¤¤¬½Ð¸½¤·, ³ËÊкߤä³Ë¤ò°µÇÓ¤·, »°Æü·î/Ⱦ·î¾õ¤Î³Ë¤¬¤ß¤é¤ì¤Æ¤¤¤ë. mitosis¤¬»¶ºß. ·Á¼ÁºÙ˦¤¬¾¯¿ôº®ºß¤·¤ÆÇ§¤á¤é¤ì¤ë.

­¢ ¾¯Î̤ÎÀþ°ÝÀ­ÁÈ¿¥¤ò´Ö¼Á¤ËÎà±ß·Á/¿ÎÇ·Á¤Îvesicular¤Ê³Ë¤È¹¥»ÀÀ­, øÌÀ¤ÊºÙ˦¼Á¤ò¤â¤ÄÎà¾åÈéÍͤÎÃæ¡ÁÂç·¿¤ÎºÙ˦¤¬½¸äÈ, Áý¿£¤·¤Æ¤¤¤ë.mitosis¤¬Â¿¤¤. ÊÕ±ï¤Ë¤Ïrhabdoid cells¤Îchohesive¤ÊÁý¿£¤¬Ç§¤á¤é¤ì¤ë.

­£ ´Ö¼Á¤ÎÀþ°ÝÁÈ¿¥¤¬Â¿¤¯, ¾Ë»Ò²½¤ämyxomatous change¤¬Ç§¤á¤é¤ì¤ë. Æó³Ë¤ÎÂç·¿µðºÙ˦¤¬»¶ºß¤·¤Æ¤¤¤ë. ºÙ˦¤Î¿·¿¤Ï¹âÅ٤ǤϤʤ¤°õ¾Ý.

 
ope-CD34.jpg(119.8KB)spindle-CD34.jpg(193.7KB)ope-CD99.jpg(133.8KB)ope-vim.jpg(123.9KB)
CD34CD34-spindle cellsCD99(MIC2)Vimentin
ope-EMA01.jpg(100.0KB)ope-BCL2.jpg(76.0KB)CK(AE1/3)¤Ï±¢À­. MIB-1¤Ï>90%

Vimentin, CD99(MIC2)¤Ï¤Ó¤Þ¤óÀ­¤ËÍÛÀ­¤ò¼¨¤¹. CD34¤Ïfocal¤ËÍÛÀ­. °Û·¿ spindle cell¤Ë¤âÍÛÀ­¤òÄ褹¤ë. EMA¤Ï¾¯¿ô¤ÎÍÛÀ­ºÙ˦¤¢¤ê. BCL2¤Ï¥ê¥ó¥Ñµå¤ËÍÛÀ­. ¼ðáçºÙ˦¤Ï¤Û¤Ü±¢À­. ø¤¯À÷¤Þ¤ëºÙ˦¤¬¤´¤¯¾¯¿ô¤¢¤ë. CK(AE1/3)¤Ï±¢À­. p53¤Ï¤Ó¤Þ¤óÀ­, 80%¤ËÍÛÀ­. (photo½àÈ÷Ãæ). MIB-1 LI¤Ï>90%.

 
BRG1-pleura01.jpg(130.3KB)BRG1-pleura02.jpg(147.3KB)INI1-SMARCAB1.jpg(198.6KB)p53-pleura.jpg(181.4KB)
BRG1(SMARCA4)BRG1(SMARCA4)INI1(SMARCAB1)p53

BRG1¤Ï³ËÀ÷¿§À­¤¬¾Ã¼º. internal control¤Î·ì´ÉÆâÈé¤ä±ê¾ÉºÙ˦¤Ï³Ë¤ËÍÛÀ­¤È¤Ê¤ë. INI1(SNF5/SMARCAB1)¤Ï¤Ó¤Þ¤óÀ­¤ËÍÛÀ­. p53¤¬Â¿¤¯¤Î¼ðáçºÙ˦¤ËÍÛÀ­¤È¤Ê¤ë.

 
 
postCT4-2-19.jpg

¶»¹Ð¶À²¼¥Ö¥éÀÚ½ü½Ñ5¥õ·î¸å, ½Ä³Ö¼ðáî¤ÇºÆÈ¯. ¾±¡¤Ç¼ðáçÀÚ½ü¡Ü±¦ÇÙ¾åÍÕÀÚ½ü¤ò»Ü¹Ô. Æù´ãŪ¤Ë¤Ï¼ðáç¤Ï´°Á´¤ËÀÚ½ü¤Ç¤­¤¿.

ÉÂÍý¿ÇÃǤÏ, Èóŵ·¿Åª½ê¸«¤Ê¤¬¤émalignant solitary fibrous tumor¤È¤µ¤ì¤¿.(˶¸¡»þÅÀ¤Ç¤ÏSMARCA4-DTS¤Î¼À´µ³µÇ°¤Ï¤Ê¤¯, Ã諤âÆÀ¤é¤ì¤Æ¤¤¤Ê¤«¤Ã¤¿.)

 

½é¿Ç¤«¤é11¥õ·î, ¶»Éô¤Ä¤«¤¨´¶½Ð¸½. CT¤Çµ¤´Éʬ´ôÉô¤«¤é²£³ÖËì¿©Æ»Îö¹¦¤òÄ̤ê, Ê¢¹ÐÆâ¤Ø¿ÊŸ, ¿©Æ»¤ª¤è¤ÓÂçÆ°Ì®¤ò°Ïå夹¤ëµðÂç¤Ê¼ðá礬ºÆÈ¯¤·¤¿. ¾±¡¤Ç¤Î¹³¤¬¤óºÞ´¶¼õÀ­¥Æ¥¹¥È¤Î·ë²Ì¤è¤ê, CDDP+5FU¤Ë¤è¤ë²½³ØÎÅË¡¤¬¤ª¤³¤Ê¤ï¤ì¤¿¤¬¸ú²Ì˳¤·¤¯Á´¿È¾õÂÖ°­²½. ¸ÆµÛÉÔÁ´¤¬¿Ê¹Ô¤·½é¿Ç¤è¤êÌó1ǯ¤Î·Ð²á¤Ç±Ê̲¤µ¤ì¤¿.

recurrence01.jpg recurrence02.jpg

 
 

Autopsy findings: macro

auto-macro01.jpg(94.1KB)auto-macro02.jpg(102.8KB)tumor-cut01.jpg(86.5KB)

SMARCA4(BRG-1)-deficient thoracic sarcoma

2015ǯ Le Loarer F¤é¤Ë¤è¤êʬÎàÉÔǽÆù¼ð¤ÎRNA-seq¤«¤é ¿·¤·¤¤¼À´µ·², SMARCA4-deficient thoracic sarcoma¤È¤·¤Æ19Î㤬¤Þ¤È¤á¤é¤ì, Nature Genetics¤ËÎ×¾²ÉÂÍýÁü¤ä°äÅÁ»Ò¤ÎÊѰ۽긫¤¬Êó¹ð¤µ¤ì¤¿.*1

Î×¾²Áü

Le Loarer¤é¤ÎÊó¹ð¤·¤¿ºÇ½é¤Î¾ÉÎã*1

  • Á´19Î㤬¶»¹Ð¤Ëȯ¾É.½Ä³Ö(n=13), ¶»Ëì(n=5), ÇÙ(n=1). Âç·¿°µÇÓÀ­¤Î¼ðáî¤ÇÃæ±ûÃÍ13cm, (3.5-21cm). ½Ä³Ö, ¶»Ëì¼ðáî¤ÏÄ̾ï¶á˵¤ÎÇÙ, ÇÙÀí=5, ÇÙÌç=4, ¤ª¤è¤Ó¶»ÊÉ=10¤Ë¿»½á¤·¤Æ¤¤¤ë.
     
  • ºÇ¤âØí´µ¿ô¤Î¿¤¤Ç¯Îð¤Ï 30-35ºÐ Ãæ±ûÃÍ41ºÐ(28-72ºÐ). ÃËÀ­Í¥°Ì. n=16/19 ¤ÇµÊ±ì¼Ô n=17/19¤Ë¿¤«¤Ã¤¿.
    ¼ãǯ¼Ô¤Ë¤ª¤³¤ë¸²Ãø¤Ê¥ê¥ó¥ÑÀáÉÂÊÑ¤È ¿¯½±À­¶»ÉôÉÂÊѤϰ­À­¥ê¥ó¥Ñ¼ð, NUT midline carcinoma(carcinoma with BRD3-NUTM1/ BRD4-NUTM1 fusion)¤òÎ×¾²Åª¤Ëµ¿¤ï¤»¤ë.
     
  • ²½³ØÎÅË¡¤Ë¤ÏÄñ¹³À­¤Ç¶É½ê¤ÇÁáµÞ¤ËÁýÂ礹¤ë.³°²ÊŪÀÚ½ü¤ò2Îã¤Ë¤ª¤³¤Ê¤¤¥Þ¥¯¥í¤ÇÃÇü±¢À­¤Ç¤¢¤Ã¤¿¤¬1¤«·î°ÊÆâ¤ËºÆÈ¯¤·¤¿. Median OS¤Ï 7¥õ·î.( 1-20¥õ·î). 1Îã¤ò½ü¤­¶É½ê¼ðáî¤Ç»àË´(n=17/18).
     

ÆüËܤÎ12¾ÉÎã(¹ñΩ¤¬¤ó¥»¥ó¥¿¡¼¾ÉÎã)*2

  • 27 - 82ºÐ(Ãæ±ûÃÍ39ºÐ), ÃËÀ­11/ ½÷À­1.
     
  • 11/12Î㤬ÇÙ¤Ëemphysema, bullae¤òÍ­¤·¤Æ¤¤¤¿. primary site¤Ï, ¶»ÊÉ=1, ¶»Éô˵ÀÔÄÇ=2, ÇÙ=4Îã¤Ç, Ʊ»þ¤Ë¸åÊ¢Ëì(1), Ê¢¹ÐÆâ(1), ½Ä³Ö¤Ë¿ÊŸ(1), Ç٤Τß(1). ½Ä³Ö=4,Ʊ»þ¤Ë¹üÈ׹ФޤǿÊŸ(1). æþãÝ=1.
     
  • ž°Ü¤¬, ¶»Ëì(1Îã), ¥ê¥ó¥ÑÀá(5), ´Î(4), ÇÙ(3), ¹ü(3), Éû¿Õ(2), °ß(2), Èé²¼(1), ÍñÁã(1)¤Ëǧ¤á¤é¤ì¤¿.

Sauter JL et al. (Mayo clinic¾¤Î12Îã)*3

  • 44-76ºÐ¡ÊÃæ±ûÃÍ59ºÐ) ÃËÀ­9: ½÷À­3
     
  • ¾É¾õ¤Ï¸ÆµÛº¤Æñ, ¶»ÄË, ¶»¿å, ÓÒÅÇ, ·ñÂÕ´¶, ÂνŸº¾¯. ¤³¤Î¾, ³Æ¡¹1Îã¤ËIJ¹üž°Ü¤Ë¤è¤ë²¼»èÄˤÈæÎÏ, Ǿž°Ü¤Ë¤è¤ë¤Æ¤ó¤«¤ó¾É¾õ¤¬¤ß¤é¤ì¤¿.
     
  • ¼ðáç¤ÎÉô°Ì¤Ï, ½Ä³Ö=7(58%), ÇÙ=3(25%), ¶»Ëì=2(17%). ½éȯ»þ¤Ëž°Ü¡Ü; Éû¿Õ, Ǿ, ÇÙÌç¥ê¥ó¥ÑÀá.¡¡1Îã¤Ï·Ð²áÃæ(1¥õ·î)¤Ë¹­ÈϤÊž°Ü(¥ê¥ó¥ÑÀá, Éû¿Õ, ¿´Ëì, ÇÙ, ¹ü, Ǿ)¤ò¤­¤¿¤·¤¿.¡¡

Perret R, et al(2019 Am J Surg Pathol)*4¥Õ¥é¥ó¥¹¤Î30¾ÉÎã

  • 28 - 90ºÐ(Ãæ±ûÃÍ48ºÐ). ÃËÀ­27/½÷À­3 (9:1)µÊ±ì¼Ô¤¬Â¿¤¤(87%).
     
  • ½Ä³Ö=13Îã, ¶»Ëì=5Îã(¤¦¤Á2Îã¤Ï¿ȯ), ÇÙ=2Îã. Ê£¿ô¡´ï¤Ëȯ¾É=10Îã= ½Ä³Ö¤ÈÇÙ=2, ½Ä³Ö¤ÈÇÙÌç= 4, ½Ä³Ö¤È¶»Ëì¤ÈÇÙ=1, Ç٤ȶ»Ëì=3.
     
  • Â礭¤Ê¿»½áÀ­¼ðáî¤ÇÎÙÀܤ¹¤ë¡´ï¤ò°µÇÓ¤·¤Æ¤¤¤ë. ²èÁü¤Ç¤Ï¥ê¥ó¥Ñ¼ð, NUT midline carcinoma, æõºÙ˦¼ðá礬µ¿¤ï¤ì¤¿.
     
  • ž°Ü¤¬77%¤Î¾ÉÎã¤Ëǧ¤á¤é¤ì¤Æ¤¤¤ë. ¥ê¥ó¥ÑÀá>¹ü>Éû¿Õ>´Î>¾Ã²½´É>Ãæ¿õ¿À·Ð>¿Õ
     
  • OS Ãæ±ûÃͤÏ7¥õ·î¤Èͽ¸åÉÔÎÉ.
SMARCA4-mutations.jpg

SMARCA4

SMARCA4¡§SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4.
GeneID:6597 (NM 003072) ¶Éºß 19p13.2, 19 NC_000019.10 (10960997..11062277). 40¥¨¥¯¥½¥ó.

rhaboid feature¤ÏBAF complex¤ÎÉԳ貽¤òÈ¿±Ç¤¹¤ë·ÁÂÖ³ØÅªÆÃħ¤Ç¤¢¤ë¤È¤¹¤ëÊó¹ð¤òÁ°Äó¤È¤·. *5 *6.*7*8*918Îã¤Îrhabdoid cell¤«¤é¤Ê¤ëSMARCB1(SNF5/INI1)¤¬Êݤ¿¤ì¤Æ¤¤¤ëʬÎàÉÔǽÆù¼ð¤ÎmRNA¥·¡¼¥¯¥¨¥ó¥¹¤ò¥¹¥¯¥ê¡¼¥Ë¥°.

ºÇ½ªÅª¤ËSMARCA4ÊѰۤò¼¨¤¹19Îã¤ò²òÀϤ·nonsense mutation(n = 10), frame shift (n=6), missense (n=2)¤ò¸¡½Ð, ¤ª¤è¤Ósplice site¡Ên=1)¤¬Ç§¤á¤é¤ì¤¿. (±¦¿Þ)*1

SMARCA4°Ê³°¤Î°äÅÁ»Ò°Û¾ï¤Ç¤Ï, TP53ÊѰۤ¬È¿ÉüÀ­¤Ëǧ¤á¤é¤ì¤ë¤Î¤ß¤Ç¤¢¤Ã¤¿.

ÆüËÜ(¹ñΩ¤¬¤ó¥»¥ó¥¿¡¼)¤Î12¾ÉÎã¤Î°äÅÁ»Ò²òÀϤǤÏ, 5Îã¤Î²òÀϤ¬²Äǽ¤Ç¤¢¤Ã¤¿. D543fs(1629delC), L553fs(1658del19), E700X(G2098T), H799fs(2396delA), Q1012X(C3034T),¤ò¸¡½Ð¤·¤¿. *2

SMARCA4ÊѰۤËHOT SPOT¤Ïǧ¤á¤é¤ì¤Ê¤¤¤è¤¦¤Ç¤¢¤ë.

phenotype: ÌȱÖÀ÷¿§¤Î½ê¸«.

ʸ¸¥; Or(Le Loarer, et al*1), J(Japanese cases*2), F(French cases*4), A(American-Mayo,etc cases*3)

¿ÇÃǤËɬ¿Ü¤È¹Í¤¨¤é¤ì¤ëÌÈÀ÷·ë²Ì

  • Èù¾®¤ÊÀ¸¸¡ÁÈ¿¥¤Ç¤Î¿ÇÃǤǤÏSMARCA4, SMARCA2ξ¼Ô¤Î¾Ã¼º¤ÈSOX2¤¬¤Ó¤Þ¤óÀ­¤ËÀ÷¿§(³Ë¤ËÍÛÀ­)¤µ¤ì¤ë¤³¤È¤¬Í­ÍÑ. Or, J, F, A
  • SMARCA4(BRG-1);¾Ã¼ºOr, J, F, A¤¢¤ë¤¤¤Ï¤Ó¤Þ¤óÀ­¤Ëȯ¸½¤¬¸º¾¯¤·¤Æ¤¤¤ë.J
  • SOX2: ³Ë¤Ë¤Ó¤Þ¤óÀ­, ¶¯ÍÛÀ­¤ò¼¨¤¹(96%). SMARCA4·ç¼ºÇÙ´â¾ÉÎã¤Ç¤Ï±¢À­Or. SMARCA4-loss case¤Î4Îã¤Ë, ¤Ó¤Þ¤óÀ­¤Ë¶¯ÍÛÀ­.SMARCA4¤¬Êݤ¿¤ì¤Æ¤¤¤ësarcoma¤Ç¤ÏÁ´Îã±¢À­A. ÍÛÀ­¤¬85%, ¡Þ¤¬11%F.

¤½¤Î¾ÍÛÀ­¤ò¼¨¤¹¹³ÂÎ

  • Vimentin:ÍÛÀ­(7/7)J
  • CD34(67%):¼ðáçºÙ˦¤Î¿¤¯¤¬ÍÛÀ­¤È¤Ê¤ë. CD34ÍÛÀ­; 3/5Îã(60%)A. 52%¤¬¡Ü, 11%¤¬¡ÞF
  • SALL4:°ìÉô¤Î¾ÉÎã(33%)¤Ë, focal¤ËÀ÷¤Þ¤ë.Or. 9%¤¬ÍÛÀ­, 24%¤¬¡ÞF.
  • MIC2(CD99)¡§3/6Îã¤ÇÍÛÀ­J.40%(6/15)¤ËÍÛÀ­F.
  • p53: 7/10¾ÉÎã¤Ë¶¯¤¯¤Ó¤Þ¤óÀ­(>90%¤ÎºÙ˦)ÍÛÀ­.J
  • SMARCAB1(INI1); ÊÝ»ý¤µ¤ì¤Æ¤ª¤ê·ç»¤Ï¤Ê¤¯³ËÍÛÀ­.Or, J, F, A
  • CK(AE1/3, etc), EMA¤Ê¤É¤Î¾åÈé¥Þ¡¼¥«; ¤Û¤È¤ó¤É(97%)¤¬ CK(AE1/3), EMA, ¤Î¤¦¤Á¤É¤Á¤é¤«1¤Ä¤Î¾åÈé¥Þ¡¼¥«¤ò¤òȯ¸½¤¹¤ë. Ä̾ï°ìÉô¤ÎºÙ˦¤ËÍÛÀ­¤È¤Ê¤ëOr. CK(AE1/3)¤Ï¾¯¿ô¤ÎºÙ˦¤ËÍÛÀ­ 10(83%). ¤Ó¤Þ¤óÀ­¤Îȯ¸½¤Ï¤É¤Î¾ÉÎã¤Ë¤â¤ß¤é¤ì¤Ê¤«¤Ã¤¿.A. CAM5.2(1/1), CK7(1/3), EMA(8/10)¤ËÍÛÀ­J.CK,EMA¤Ï22%¤¬¡Ü, ³Æ¡¹32%,59%¤¬¡Þ, CK7(1/7), F
  • SMARCB1(INI1, SNF2): ȯ¸½¤ÏÊݤ¿¤ì¤Æ¤¤¤ë.
  • calretinin (7%.1/14)F
  • TTF1, p63: 1Îã¤ËÀ÷¤Þ¤ë.¡¡TTF-1; 1Îã¤Î¤ß¼åÍÛÀ­J. ¤³¤ÎÎã¤ÏCK¤Ï±¢À­A TTF1¤Ï4%¤Ë¡Þ, p63¤Ï5%¤Ë¡ÞF.
  • Synaptophysin (1/4). 18%(3/17)F
  • claudin4 11%¤Ë¡ÞF.

±¢À­½ê¸«¤ÎÌȱÖÀ÷¿§

  • p40, NUT¤ÏÁ´Îã±¢À­F, A, J.¡¡Desmin, NUT, S-100¤Ï±¢À­.
  • DNA mismatch repair proten: PMS2, MSH6¤ÏÊÝ»ý¤µ¤ì¤Æ¤¤¤ë. ¾Ã¼º¤Ê¤·.
  • CK20(0/3), 34¦ÂE12(0/1), p40 or p63(0/5), napsinA(0/3), HNF4¦Á(0/5), NUT(0/4), CD45(0/7), ALK/p80(0/3), CD20(0/4), CD79a(0/4), CD3(0/4), CD5(0/3), TdT(0/1), CD30(0/6), CD31(0/4), ERG(0/2), S100(0/10), HMB45(0/2), MelanA(0/1), NKX2.2(0/8), chromograninA(0/3), CD56(0/2), PLAP(0/3), C-KIT(0/6), hCG(0/2), alpha-fetoprotein(0/2), OCT3(0/7), MUC480/2), SMA(0/4), HHF35(0/2), desmin(0/7), myogenin(0/4).°Ê¾åJ
  • CD5(0/16), CK5/6(0/17),CD45(0/18),chromograninA(0/17), PLAP(0/10), CD117(0/16), WT1(0/6), Desmin(0/23), Myogenin(0/23), CD56(0/16)F

*1  Le Loarer F, et al. SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat Genet. 2015 Oct;47(10):1200-5. doi: 10.1038/ng.3399. Epub 2015 Sep 7.
*2  Yoshida A, et al Clinicopathological and molecular characterization of SMARCA4-deficient thoracic sarcomas with comparison to potentially related entities. Mod Pathol. 2017 Jun;30(6):797-809. doi: 10.1038/modpathol.2017.11. Epub 2017 Mar 3.
*3  Sauter JL, et al.SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior.Mod Pathol. 2017 Oct;30(10):1422-1432. doi: 10.1038/modpathol.2017.61. Epub 2017 Jun 23.
*4  Perret R, et al. SMARCA4-deficient Thoracic Sarcomas: Clinicopathologic Study of 30 Cases With an Emphasis on Their Nosology and Differential Diagnoses. Am J Surg Pathol. 2019 Apr;43(4):455-465. doi: 10.1097/PAS.0000000000001188.
*5  Versteege, I. et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998: 394, 203-206 .
*6  Witkowski, L. et al. Familial rhabdoid tumour ¡Æavant la lettre¡Ç-from pathology review to exome sequencing and back again. J. Pathol. 2013: 231, 35-43
*7  Hasselblatt, M. et al. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am. J. Surg. Pathol. 2011: 35, 933-935.
*8  Guillou, L., Wadden, C., Coindre, J.M., Krausz, T. & Fletcher, C.D. ¡ÈProximal-type¡É epithelioid sarcoma, a distinctive aggressive neoplasm showing rhabdoid features. Clinicopathologic, immunohistochemical, and ultrastructural study of a series.¡¡Am. J. Surg. Pathol. 1997: 21, 130-146.
*9  Varela, I. et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 2011: 469, 539-542.

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