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peripheral primitive neuroectodermal tumor in an octogenarian
BRIEF REPORTS
Extensive GI tract involvement of Ewing’s sarcoma/peripheral primitive neuroectodermal tumor in an octogenarian Pei-Ying Lin, MD, Jin-Yuan Shih, MD, PhD, Mu-Zon Wu, MD, Yu-Ting Chang, MD, Pan-Chyr Yang, MD, PhD Taipei, Taiwan
Ewing’s sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) is a rare disease with poor prognosis. It is uncommon in Asians and usually considered a disease of children and young adults.1 The most common age of diagnosis is in the second decade of life, and the median age of occurrence is 15 years. Only about 20% of cases are diagnosed after 20 years of age.2 EWS/pPNET with GI tract involvement is very rare, and there are few case reports in the English literature. All of the reported cases are children or young adults, and none of the cases report extensive GI tract involvement.3-5 Our patient is the first and oldest in the English literature to have extensive GI tract involvement of EWS/pPNET.
CASE REPORT An 80-year-old man presented to our hospital with newly onset productive cough and dyspnea. He had poor appetite and epigastric discomfort for 2 months, a history of oropharyngeal squamous cell carcinoma, and had received wide excision plus anterolateral thigh flap reconstruction 4 years previously without evidence of local recurrence. On admission, the patient was afebrile, with stable vital signs and clear consciousness. Operation scars were found on his head and neck. Chest percussion revealed dullness over the left lower lung area, and auscultation disclosed inspiration crackles on bilateral basal lung fields. Abdominal examination revealed mild tenderness on the epigastric area. Other physical and neurological examinations were unremarkable. Hemogram and blood biochemistry studies were within normal ranges, except for elevated white blood cell count (16.32 K/mL [normal 4.5-11.0 K/mL], neutrophil 90%), lactate dehydrogenase level (1143 U/L [!460 U/L]), and hypoalbuminemia (2.4 g/dL [3.5-5.0 g/dL]). A chest radiograph (Fig. 1) showed an increased retrocardiac density, right lower lobe infiltration, and bilateral pleural effusion. A chest CT (Fig. 2A and B) showed a heterogenous mass extending from the lower posterior mediastinum, with lower-third esophagus involvement to the stomach. An EGD examination showed one lower-third esophageal ulcerative mass involving the entire circumference, as well as multiple gastric and duodenal ulcerative tumors (Fig. 3). Clinically, esophageal cancer, lymphoma,
or metastatic cancer was the first impression. However, biopsy specimens taken at the esophageal, gastric, and duodenal lesions all revealed EWS/pPNET. The tumor cells were small, blue, and round, with hyperchromic nuclei and marked necrosis. They were positive for CD99 (Fig. 4A and B) and negative for common leukocyte antigen, myeloperoxidase, cytokeratin, chromogranin A, synaptophysin, friend leukemia integration 1 (FLI1), Wilms’ tumor suppressor gene, and anaplastic lymphoma kinase fused genes. The patient experienced an episode of massive upper GI bleeding 3 weeks after his admission. He refused resuscitation and passed away. In accordance with the family’s will, there was no postmortem examination performed.
1196 GASTROINTESTINAL ENDOSCOPY Volume 67, No. 7 : 2008
www.giejournal.org
Figure 1. Posteroanterior plain chest radiograph, with the patient standing, showing increased retrocardiac density and bilateral pleural effusion.
DISCUSSION EWS/pPNET is thought to be a disease of children and young adults.1 Previously, the oldest patient with EWS/pPNET reported in the literature was a 77-year-old
Brief Reports
Figure 3. EGD showing multiple ulcerative tumors of the duodenum.
Figure 2. A, B, Chest CT showing a heterogenous huge tumor mass extending from the thorax to the abdomen.
woman with left inguinal extraosseous Ewing’s sarcoma.6 Currently, there are no conclusive data on the correlation between age and prognosis1; however, elevated serum lactate dehydrogenase levels correlate with tumor burden and inferior outcome.7 Our patient had markedly elevated lactate dehydrogenase levels, with extensive upper GI tract involvement. EWS/pPNET is described as small, blue, round cell tumors, derived from the neural crest and differentiated along a neuroendocrine linage. A total of 95% to 100% of them express strong cell-surface glycoprotein CD99. The EWS-FLI1 fusion gene, a result of translocation t(11;22)(q24;q12), is considered pathognomic for the disease and exists in 85% of cases.8 In 5% to 10% of cases with positive CD99 but negative EWS-FLI1 fusion gene, there is a translocation t(21;22)(q22;q12) that results in the EWS-erythroblastosis virus-transforming sequencerelated fusion gene.9 EWS/pPNETwith extensive GI tract involvement has not been previously reported in the English literature. The current case demonstrates a unique presentation of EWS/ pPNET and gives the clinician a different way of thinking about the disease when faced with an elderly patient with this kind of tumor involvement. www.giejournal.org
Figure 4. Histopathology examination showing (A) small, blue, round tumor cells (H&E, orig. mag. 200) that (B) were positive for CD99 (PAP, orig. mag. 200).
Volume 67, No. 7 : 2008 GASTROINTESTINAL ENDOSCOPY 1197
Brief Reports
DISCLOSURE The authors report that there are no disclosures relevant to this publication. Abbreviations: EWS/pPNET, Ewing’s sarcoma/peripheral primitive neuroectodermal tumor; FLI1, friend leukemia integration 1.
REFERENCES 1. Scurr M, Judson I. How to treat the Ewing’s family of sarcomas in adult patient. Oncologist 2006;11:65-72. 2. Hense HW, Ahrens S, Paulussen M, et al. Descriptive epidemiology of Ewing’s tumor: analysis of German patients from EICESS 1980-1997 [German]. Klin Padiatr 1999;211:271-5. 3. Kie JH, LEE MK, Kim CJ, et al. Primitive Ewing’s sarcoma of the suodenum: a case report. Int J Surg Pathol 2003;11:331-7. 4. Tokudome N, Tanaka K, Kai MH, et al. Primitive neuroectodermal tumor of the transverse colonic mesentery defined by the presence of EWS-FLI1 chimeric mRNA in a Japanese woman. J Gastroenterol 2002;37:543-9. 5. Batziou C, Stathopoulos GP, Petraki K, et al. Primitive neuroectodermal tumors: a case of extraosseous Ewing’s sarcoma of the small intestine and review of the literature. J BUON 2006;11:519-22.
6. Cheung CC, Kandel RA, Bell RS, et al. Extraskeletal Ewing sarcoma in a 77-year-old woman. Arch Pathol Lab Med 2001;125:1358-60. 7. Bernstein M, Kovar H, Paulussen M, et al. Ewing’s sarcoma family of tumors: current management. Oncologist 2006;11:503-19. 8. Turc-Carel C, Aurias A, Mugneret F, et al. Chromosomes in Ewing’s sarcoma. I. An evaluation of 85 cases of remarkable consistency of t(11;22)(q24;q12). Cancer Genet Cytogenet 1988;32:229-38. 9. Zucman J, Melot T, Desmaze C, et al. Combinatorial generation of variable fusion proteins in the Ewing family of tumors. EMBO J 1993; 12:4481-7.
Department of Internal Medicine (P-Y.L., J-Y.S., Y-T.C., P-C.Y.), Department of Pathology (M-Z.W.), National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan. Reprint requests: Jin-Yuan Shih, MD, PhD, Department of Internal Medicine, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei 100, Taiwan. Copyright ª 2008 by the American Society for Gastrointestinal Endoscopy 0016-5107/$32.00 doi:10.1016/j.gie.2007.10.053
Retrieval of a migrated esophagojejunal stent by using the double-balloon enteroscope Hans Orlent, MD, Pierre Laukens, MD, Philippe Vergauwe, MD Brugge, Kortrijk, Belgium
CASE REPORT A 66-year-old woman underwent a radical total gastrectomy at another hospital, in March 2007, for a poorly differentiated gastric carcinoma. Respiratory distress developed due to postoperative leakage at the esophagojejunal anastomosis. Bilateral chest tubes were inserted, and a 12-cm long double-layered Niti-S stent with an inner diameter of 20 mm (Taewong Medical, Seoul, Korea) was placed. The patient subsequently recovered. Two months after the stent insertion, the stent had migrated to the mid-jejunum, causing abdominal discomfort. The migrated stent was not within reach of the Olympus PCF-Q180AI colonoscope (Olympus Corp, Tokyo, Japan). The patient was referred to our center for stent retrieval with the double-balloon enteroscope. The procedure was performed, with the patient under general anesthesia, using a Fujinon EN-450T5 double-balloon enteroscope (Fujinon Corp, Saitama, Japan). The proximal end of the stent was reached by using the push-and-pull technique via the oral route, as described previously (Fig. 1).1-3 We were able to transform the proximal end of the stent into an atraumatic conical shape by pulling at the retrieval
1198 GASTROINTESTINAL ENDOSCOPY Volume 67, No. 7 : 2008
Figure 1. The double-balloon enteroscope with overtube balloon inflated and the tip of the enteroscope in the migrated stent.
string with a standard biopsy forceps (Fig. 2). Next, the stent was gently withdrawn under fluoroscopy, providing optimal visual control of the repetitive bending and stretching of the www.giejournal.org
Extensive GI tract involvement of Ewing’s sarcoma/peripheral primitive neuroectodermal tumor in an octogenarian Pei-Ying Lin, MD, Jin-Yuan Shih, MD, PhD, Mu-Zon Wu, MD, Yu-Ting Chang, MD, Pan-Chyr Yang, MD, PhD Taipei, Taiwan
Ewing’s sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) is a rare disease with poor prognosis. It is uncommon in Asians and usually considered a disease of children and young adults.1 The most common age of diagnosis is in the second decade of life, and the median age of occurrence is 15 years. Only about 20% of cases are diagnosed after 20 years of age.2 EWS/pPNET with GI tract involvement is very rare, and there are few case reports in the English literature. All of the reported cases are children or young adults, and none of the cases report extensive GI tract involvement.3-5 Our patient is the first and oldest in the English literature to have extensive GI tract involvement of EWS/pPNET.
CASE REPORT An 80-year-old man presented to our hospital with newly onset productive cough and dyspnea. He had poor appetite and epigastric discomfort for 2 months, a history of oropharyngeal squamous cell carcinoma, and had received wide excision plus anterolateral thigh flap reconstruction 4 years previously without evidence of local recurrence. On admission, the patient was afebrile, with stable vital signs and clear consciousness. Operation scars were found on his head and neck. Chest percussion revealed dullness over the left lower lung area, and auscultation disclosed inspiration crackles on bilateral basal lung fields. Abdominal examination revealed mild tenderness on the epigastric area. Other physical and neurological examinations were unremarkable. Hemogram and blood biochemistry studies were within normal ranges, except for elevated white blood cell count (16.32 K/mL [normal 4.5-11.0 K/mL], neutrophil 90%), lactate dehydrogenase level (1143 U/L [!460 U/L]), and hypoalbuminemia (2.4 g/dL [3.5-5.0 g/dL]). A chest radiograph (Fig. 1) showed an increased retrocardiac density, right lower lobe infiltration, and bilateral pleural effusion. A chest CT (Fig. 2A and B) showed a heterogenous mass extending from the lower posterior mediastinum, with lower-third esophagus involvement to the stomach. An EGD examination showed one lower-third esophageal ulcerative mass involving the entire circumference, as well as multiple gastric and duodenal ulcerative tumors (Fig. 3). Clinically, esophageal cancer, lymphoma,
or metastatic cancer was the first impression. However, biopsy specimens taken at the esophageal, gastric, and duodenal lesions all revealed EWS/pPNET. The tumor cells were small, blue, and round, with hyperchromic nuclei and marked necrosis. They were positive for CD99 (Fig. 4A and B) and negative for common leukocyte antigen, myeloperoxidase, cytokeratin, chromogranin A, synaptophysin, friend leukemia integration 1 (FLI1), Wilms’ tumor suppressor gene, and anaplastic lymphoma kinase fused genes. The patient experienced an episode of massive upper GI bleeding 3 weeks after his admission. He refused resuscitation and passed away. In accordance with the family’s will, there was no postmortem examination performed.
1196 GASTROINTESTINAL ENDOSCOPY Volume 67, No. 7 : 2008
www.giejournal.org
Figure 1. Posteroanterior plain chest radiograph, with the patient standing, showing increased retrocardiac density and bilateral pleural effusion.
DISCUSSION EWS/pPNET is thought to be a disease of children and young adults.1 Previously, the oldest patient with EWS/pPNET reported in the literature was a 77-year-old
Brief Reports
Figure 3. EGD showing multiple ulcerative tumors of the duodenum.
Figure 2. A, B, Chest CT showing a heterogenous huge tumor mass extending from the thorax to the abdomen.
woman with left inguinal extraosseous Ewing’s sarcoma.6 Currently, there are no conclusive data on the correlation between age and prognosis1; however, elevated serum lactate dehydrogenase levels correlate with tumor burden and inferior outcome.7 Our patient had markedly elevated lactate dehydrogenase levels, with extensive upper GI tract involvement. EWS/pPNET is described as small, blue, round cell tumors, derived from the neural crest and differentiated along a neuroendocrine linage. A total of 95% to 100% of them express strong cell-surface glycoprotein CD99. The EWS-FLI1 fusion gene, a result of translocation t(11;22)(q24;q12), is considered pathognomic for the disease and exists in 85% of cases.8 In 5% to 10% of cases with positive CD99 but negative EWS-FLI1 fusion gene, there is a translocation t(21;22)(q22;q12) that results in the EWS-erythroblastosis virus-transforming sequencerelated fusion gene.9 EWS/pPNETwith extensive GI tract involvement has not been previously reported in the English literature. The current case demonstrates a unique presentation of EWS/ pPNET and gives the clinician a different way of thinking about the disease when faced with an elderly patient with this kind of tumor involvement. www.giejournal.org
Figure 4. Histopathology examination showing (A) small, blue, round tumor cells (H&E, orig. mag. 200) that (B) were positive for CD99 (PAP, orig. mag. 200).
Volume 67, No. 7 : 2008 GASTROINTESTINAL ENDOSCOPY 1197
Brief Reports
DISCLOSURE The authors report that there are no disclosures relevant to this publication. Abbreviations: EWS/pPNET, Ewing’s sarcoma/peripheral primitive neuroectodermal tumor; FLI1, friend leukemia integration 1.
REFERENCES 1. Scurr M, Judson I. How to treat the Ewing’s family of sarcomas in adult patient. Oncologist 2006;11:65-72. 2. Hense HW, Ahrens S, Paulussen M, et al. Descriptive epidemiology of Ewing’s tumor: analysis of German patients from EICESS 1980-1997 [German]. Klin Padiatr 1999;211:271-5. 3. Kie JH, LEE MK, Kim CJ, et al. Primitive Ewing’s sarcoma of the suodenum: a case report. Int J Surg Pathol 2003;11:331-7. 4. Tokudome N, Tanaka K, Kai MH, et al. Primitive neuroectodermal tumor of the transverse colonic mesentery defined by the presence of EWS-FLI1 chimeric mRNA in a Japanese woman. J Gastroenterol 2002;37:543-9. 5. Batziou C, Stathopoulos GP, Petraki K, et al. Primitive neuroectodermal tumors: a case of extraosseous Ewing’s sarcoma of the small intestine and review of the literature. J BUON 2006;11:519-22.
6. Cheung CC, Kandel RA, Bell RS, et al. Extraskeletal Ewing sarcoma in a 77-year-old woman. Arch Pathol Lab Med 2001;125:1358-60. 7. Bernstein M, Kovar H, Paulussen M, et al. Ewing’s sarcoma family of tumors: current management. Oncologist 2006;11:503-19. 8. Turc-Carel C, Aurias A, Mugneret F, et al. Chromosomes in Ewing’s sarcoma. I. An evaluation of 85 cases of remarkable consistency of t(11;22)(q24;q12). Cancer Genet Cytogenet 1988;32:229-38. 9. Zucman J, Melot T, Desmaze C, et al. Combinatorial generation of variable fusion proteins in the Ewing family of tumors. EMBO J 1993; 12:4481-7.
Department of Internal Medicine (P-Y.L., J-Y.S., Y-T.C., P-C.Y.), Department of Pathology (M-Z.W.), National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan. Reprint requests: Jin-Yuan Shih, MD, PhD, Department of Internal Medicine, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei 100, Taiwan. Copyright ª 2008 by the American Society for Gastrointestinal Endoscopy 0016-5107/$32.00 doi:10.1016/j.gie.2007.10.053
Retrieval of a migrated esophagojejunal stent by using the double-balloon enteroscope Hans Orlent, MD, Pierre Laukens, MD, Philippe Vergauwe, MD Brugge, Kortrijk, Belgium
CASE REPORT A 66-year-old woman underwent a radical total gastrectomy at another hospital, in March 2007, for a poorly differentiated gastric carcinoma. Respiratory distress developed due to postoperative leakage at the esophagojejunal anastomosis. Bilateral chest tubes were inserted, and a 12-cm long double-layered Niti-S stent with an inner diameter of 20 mm (Taewong Medical, Seoul, Korea) was placed. The patient subsequently recovered. Two months after the stent insertion, the stent had migrated to the mid-jejunum, causing abdominal discomfort. The migrated stent was not within reach of the Olympus PCF-Q180AI colonoscope (Olympus Corp, Tokyo, Japan). The patient was referred to our center for stent retrieval with the double-balloon enteroscope. The procedure was performed, with the patient under general anesthesia, using a Fujinon EN-450T5 double-balloon enteroscope (Fujinon Corp, Saitama, Japan). The proximal end of the stent was reached by using the push-and-pull technique via the oral route, as described previously (Fig. 1).1-3 We were able to transform the proximal end of the stent into an atraumatic conical shape by pulling at the retrieval
1198 GASTROINTESTINAL ENDOSCOPY Volume 67, No. 7 : 2008
Figure 1. The double-balloon enteroscope with overtube balloon inflated and the tip of the enteroscope in the migrated stent.
string with a standard biopsy forceps (Fig. 2). Next, the stent was gently withdrawn under fluoroscopy, providing optimal visual control of the repetitive bending and stretching of the www.giejournal.org