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1 대한내과학회지 : 제 75 권제 2 호 세여자의공장에서발생한원시신경외배엽종양 1 예 서울대학교의과대학내과학교실 1, 외과학교실 2, 병리학교실 3 김기환 1 이지영 1 이재경 1 조화영 1 임석아 1 박규주 2 김종재 3 A case of jejunal primitive neuroectodermal tumor in an adult female Ki Hwan Kim, M.D. 1, Ji young Rhee, M.D. 1, Jae Kyung Lee, M.D. 1, Hwa Young Cho, M.D. 1, Seock-Ah Im, M.D. 1, Kyu Joo Park, M.D. 2 and Chong Jai Kim M.D. 3 Departments of Internal Medicine 1, General Surgery 2 and Pathology 3, Seoul National University College of Medicine, Seoul, Korea Primitive neuroectodermal tumor (PNET) is frequent in children and adolescents, but rare in adults. Most of the extraosseous Ewing s sarcoma or PNET occur in the soft tissues of the extremities, the paravertebral region, and the pelvic cavity. PNET in the gastrointestinal tract is uncommon. We report herein a case of PNET arising from the jejunum in a 38-year-old woman. She presented with anorexia, nausea, vomiting, and weight loss. Abdominal computed tomography revealed a mass in the small bowel with obstruction. She had a small bowel segmental resection, from which PNET was diagnosed. Multi-agent chemotherapy comprised of vincristine, adriamycin, cyclophophamide, ifosfamide, and etoposide (VAC/IE) was administered for 1 year. The treatment was well-tolerated. She remains alive and continues to be disease free 30 months postoperatively. (Korean J Med 75: , 2008) Key Words: Neuroectodermal Tumors; Chemotherapy; Jejunum 서론원시신경외배엽종양은중추및교감신경이외의장기에서발생하는신경능선기원의원형소세포종양으로뼈의유잉육종, 뼈이외의유잉육종, Askin 종양과더불어유잉종양군중하나이다 1, 2). 위와같은종양은주로 10대에발병하며, 소아기와청소년기종양의 4% 를차지하고, 여아에비해남아에서약간높은유병율을보인다 ( 남 : 여 =1.1:1). 뼈이외의유잉육종은몸통 (32%), 팔다리 (26%), 머리와목 (18%), 후복강 (16%), 기타부위 (8%) 의빈도로발생하는것으로알려져있다 3). 소장에서의유잉종양군종양은드물어, Horie Y, Kato M이 2000년 40세남자환자의소장장간막에서발생한원시신경외배엽종양 1예를 4) 보고한이후국외에서 6예 5-10), 국내에서유잉육종 1예가 11) 보고된바있다. 저자들은 38세여자환자의공장에서발생한원시신경외배엽종양을수술과수술후항암화학요법으로성공적으로치료한증례를경험하였기에보고하는바이다. 증례환자 : 엄 숙, 38세, 여자주소 : 복통, 구역, 구토현병력 : 38세여자환자로서내원 8개월전부터식후배 Received: Accepted: Correspondence to: Seock-Ah Im, M.D., Ph D., Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongon-dong Chongno-gu, Seoul , Korea moisa@snu.ac.kr

- The Korean Journal of Medicine: Vol. 75, No. 2, 2008 - Table 1.

Jejunum + + None EWSR1 translocation 30 mo DFS with Kie et al 11 20 F Duodenum + + CK EWS-FLI1 fusion protein+ 18 mo DFS with Adair et al 5 21 F Duodenojejunal flexure + ND CK, NSE ND 10 mo DFS with

2 - The Korean Journal of Medicine: Vol. 75, No. 2, Table 1. Clinicopathologic characteristics of the reported cases of PNET arising from the gastrointestinal tract Reference Age Gender Site CD99 Vimentin Other markers Translocation FU Current case 38 F Jejunum + + None EWSR1 translocation 30 mo DFS with Kie et al F Duodenum + + CK EWS-FLI1 fusion protein+ 18 mo DFS with Adair et al 5 21 F Duodenojejunal flexure + ND CK, NSE ND 10 mo DFS with Sarangarajan et al 6 13 M Jejunum + + CK EWS-FLI1 type 2 1 year DFS Shek et al 7 9 F Small intestine & mesentery + ND None EWS-FLI1 (EWS exon7-fli exon8) Tumor death 25 mo after initial presentation Maesawa et al 8 56 M Esophagus + + HMB45 EWSR1-ERG Tumor death 18 mo after surgery Graham et al 9 14 M Distal ileum + - CK EWS-FLI1 type 2 13 mo DFS with Horie & Kato 4 Tumor death 5 mo 40 M Jejunum + + NSE ND after diagnosis ND, not done; CK, cytokeratin; DFS, disease-free survival; NSE, neuron-specific enolase; F/U, follow-up;, postoperative chemotherapy B A Figure 1. (A) Computed tomography of the abdomen shows a mass (white arrow) in the small bowel. (B) Virtual endoscopy by reconstructing three-dimensional computed tomography shows a mass encircling the small bowel. 꼽주위통증이시작되었고, 6개월간 7 kg의체중감소가있었다. 내원 1개월전부터식욕이감소되고구역, 구토가있어내원하였다. 과거력과가족력 : 과거력과가족력에서특이사항은없었다. 이학적소견 : 신체검사에서복부는팽만된상태였으며, 배꼽주위에 5 4 cm의종괴가촉지되었고, 장음이항진되어있었다. 전신에림프절은촉지되지않았고, 근골격계의압통, 종물, 골절도관찰되지않았다. 검사실소견 : 내원시시행한요검사, 일반혈액검사, 일반

- Ki Hwan Kim, et al: Primitive neuroectodermal tumour of the jejunum : A Case Repo - A B C D Figure 2. (A) Gross appearance of the fungating mass encircling the jejunum.

3 - Ki Hwan Kim, et al: Primitive neuroectodermal tumour of the jejunum : A Case Repo - A B C D Figure 2. (A) Gross appearance of the fungating mass encircling the jejunum. (B) The tumor was composed of small round cells (H&E stain, 400). (C) The tumor cells express membranous MIC-2 protein (anti-cd99 antibody, 400). (D) FISH shows EWS gene rearrangement. 화학검사는모두정상이었다. 방사선소견 : 복부컴퓨터단층촬영과 3차원재구성가상내시경에서소장의종괴와종괴의상부위장관팽만이확인되었다 ( 그림 1). 치료, 경과및병리소견 : 환자는 2004년 10월 23일 Treitz 인대로부터 120 cm 하부의공장종양을포함한부분절제를받았으며, 당시국소림프절비대가관찰되어제거하였다. 복수, 복막유착, 복막전이및간과비장등고형장기전이의증거는없었다. 병리소견에서종양의크기는 cm이었고, 장측복막의천공이있었으며, 림프혈관내종양색전및신경주위침범이관찰되었다. 절제면의종양침범은없었고, 6개의절제된국소림프절에서종양전이는없었다 ( 그림 2A). H&E 염색에서원시신경외배엽종양에합당한원형소세포종양의소견 ( 그림 2B) 이관찰되었으며, 병리면역화학검사에서 CD99 양성 ( 그림2C) 이었고, FISH 검사를통해 EWSR1 염색체전위를확인할수있었다 ( 그림 2D). 수술후시행한양측골수조직생검에서종양전이가없었으며, 뼈스캔및흉부컴퓨터단층촬영은정상소견이었다. 2004년 11월 15일부터복합항암화학요법치료를시작하였다. 항암제는 vincristine 2 mg 정주 D1, adriamycin 45 mg/m 2 15분정주 D1, D2, cyclophosphamide 900 mg/m 2 30분정주 D1, D2로이루어진 VAC과 ifosfamide 1000 mg/m 2 90분정주 D1-5와 etoposide 100 mg/m 2 90분정주 D1-5로이루어진 IE요법을 3 주간격으로교대투약하였으며, 24주부터는 adriamycin을 35 mg/m 2 으로감량하였다. 18주와 48주는 VAC 대신 IE로투약하도록하고, 총 51주투약하도록하였다. 출혈성방광염의예방을위해 ifosfamide 와 cyclophosphamide를투약할때는 mesna 를함께정주하도록하였다 12). 항암제투약 24시간후부터예방적 G-CSF를 5일동안사용하였다. 원발종양부위는근치적인절제가되었으므로보조방사선치료는시

4 - 대한내과학회지 : 제 75 권제 2 호통권제 576 호 행하지않았다. 2006년 3월 6일까지 VAC 7회, IE 10회가투약되었으며, adriamycin은누적용량으로총 229 mg/m 2 이투약되었다. 마지막항암화학요법이후 4개월마다복부전산화단층촬영및흉부방사선사진으로추적관찰하여현재재발의증거가없고, 특기할약물부작용도없는상태이다. 고찰유잉육종과원시신경외배엽종양, Askin 종양은약 80~ 95% 이상에서 22번염색체의 EWS유전자와 11번염색체의 FLI1유전자전위 (t(11;22)(q24;q12)) 를가지는원형소세포종양으로, 면역조직화학염색에서 CD99에양성이다. 병리소견에서는원시신경외배엽종양이유잉육종에비해신경외배엽분화가되어있고, synaptophysin, neuron-specific enolase 염색에양성을보이며, Homer-Wright pseudorosette 소견을보인다. 진단시약 26% 에서원격전이를보이며, 주된전이병소는폐와뼈이다. 소장에서의원시신경외배엽종양은그빈도가드물고, 위식도내시경이나대장내시경으로접근이불가능한공장과회장의종양은조직검사가어려워치료적수술전에진단이어렵다. 지금까지발표된대다수의환자가소아와청소년기였으며, 십이지장이 2예, 공장이 2예, 회장말단부가 1예였고, 나머지는원발부위가불분명한복강내종양이었다 ( 표 1). 원시신경외배엽종양은수술이나방사선요법과같은국소치료만으로치료하였을경우그예후가매우불량하며, 국소치료전의항암화학요법이치료성적을향상시키는것으로알려져있어, 일반적으로 12주에서 15주의항암화학요법후국소치료를시행하고, 이후재발을방지하기위해 36주정도의보조항암화학요법을지속하는것이일반적인치료법이다 13). 비전이성질환의경우복합항암화학요법 (adriamycin, dactinomycin, cyclophosphamide, vincristine, ifosfamide, etoposide의 6제요법 ) 과수술또는방사선요법으로치료하였을때 69% 의 5년무사건생존율 (event free survival) 을보인다 13). 소장에서발생한원시신경외배엽종양의수술후무병생존율은 10개월에서 18개월사이였으며, 18개월을보고한증례는수술후 adriamycin과 cyclophosphamide, vincristine, actinomycin 을사용한 7차의항암화학요법으로치료하였다 11). 요약저자들은복부통증과복부의종괴를주소로내원한 38 세성인여자환자에서복부컴퓨터단층촬영과 3차원재구성가상내시경으로공장의종괴를진단하여근치적인절제술 을시행하였으며, 병리조직검사를통해공장에서발생한원시신경외배엽종양을진단하여수술후보조항암화학요법으로 VAC/IE 복합항암화학요법을적극적으로시행하여 30개월무병생존한공장의원시신경외배엽종양 1예를경험하였기에문헌고찰과함께보고하는바이다. 중심단어 : 원시신경외배엽종양 ; 항암화학요법 ; 공장 REFERENCES 1) Dehner LP. Primitive neuroectodermal tumor and Ewing's sarcoma. Am J Surg Pathol 17:1-13, ) Kushner BH, Hajdu SI, Gulati SC, Erlandson RA, Exelby PR, Lieberman PH. Extracranial primitive neuroectodermal tumors. Cancer 67: , ) Coffin CM, Dehner LP. Pediatric soft tissue tumors: a clinical, pathological, and therapeutic approach. Baltimore, Williams and Wilkins, ) Horie Y, Kato M. Peripheral primitive neuroectodermal tumor of the small bowel mesentery: a case showing perforation at onset. Pathol Int 50: , ) Adair A, Harris SA, Coppen MJ, Hurley PR. Extraskeletal Ewings sarcoma of the small bowel: case report and literature review. J R Coll Surg Edinb 46: , ) Sarangarajan R, Hill DA, Humphrey PA, Hitchcock MG, Dehner LP, Pfeifer JD. Primitive neuroectodermal tumors of the biliary and gastrointestinal tracts: clinicopathologic and molecular diagnostic study of two cases. Pediatr Dev Pathol 4: , ) Shek TW, Chan GC, Khong PL, Chung LP, Cheung AN. Ewing sarcoma of the small intestine. J Pediatr Hematol Oncol 23: , ) Maesawa C, Iijima S, Sato N, Yoshinori N, Suzuki M, Tarusawa M, Ishida K, Tamura G, Saito K, Masuda T. Esophageal extraskeletal Ewing's sarcoma. Hum Pathol 33: , ) Graham DK, Stork LC, Wei Q, Ingram JD, Karrer FM, Mierau GW, Lovell MA. Molecular genetic analysis of a small bowel primitive neuroectodermal tumor. Pediatr Dev Pathol 5:86-90, ) Rosoff PM, Hatcher S, West DC. Biphenotypic sarcoma with characteristics of both a Ewing sarcoma and a desmoplastic small round cell tumor. Med Pediatr Oncol 34: , ) Kie JH, Lee MK, Kim CJ, Lee K, Kwon KW, Yang WI. Primary Ewing's sarcoma of the duodenum: a case report. Int J Surg Pathol 11: , ) Wexler LH, DeLaney TF, Tsokos M, Avila N, Steinberg SM, Weaver-McClure L, Jacobson J, Jarosinski P, Hijazi YM, Balis FM, Horowitz ME. Ifosfamide and etoposide plus vincristine,

5 - 김기환외 6 인 : 공장에서발생한원시신경외배엽종양 1 예 - doxorubicin, and cyclophosphamide for newly diagnosed Ewing's sarcoma family of tumors. Cancer 78: , ) Grier HE, Krailo MD, Tarbell NJ, Link MP, Fryer CJ, Pritchard DJ, Gebhardt MC, Dickman PS, Perlman EJ, Meyers PA, Donaldson SS, Moore S, Rausen AR, Vietti TJ, Miser JS. Addition of ifosfamide and etoposide to standard chemotherapy for Ewing's sarcoma and primitive neuroectodermal tumor of bone. N Engl J Med 348: ,

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김범수 Analysis of Outcomes after Resection of Sarcomatous Hepatocellular Carcinoma Purpose: Sarcomatous hepatocellular carcinoma (HCC) is rare. Therefore, the clinicopathologic characteristics and prognosis