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Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report
Current Medicine Research and Practice xxx (xxxx) xxx
Contents lists available at ScienceDirect
Current Medicine Research and Practice journal homepage: www.elsevier.com/locate/cmrp
Case report
Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report Marwa Mohammed Abdel Fattah Zaki, Mie Ali Ali, Amira Kamal El-Hawary* Pathology Department, Faculty of Medicine, Mansoura University, Egypt
a r t i c l e i n f o
a b s t r a c t
Article history: Received 5 August 2019 Received in revised form 27 October 2019 Accepted 25 November 2019 Available online xxx
Reports of colonic adenocarcinoma with yolk sac tumor are rare. We reported a case of 18 years-old female patient admitted to Mansoura oncology center with severe abdominal pain. Physical examination revealed a distended abdomen with hepatomegaly with no abdominal mass. Computed tomographic (CT) scan of the abdomen revealed markedly enlarged liver with multiple innumerable variable sized hyper-echoic non-enhanced focal lesions. The patient underwent an ultrasound-guided biopsy of the liver that showed metastatic yolk sac tumor. Colonoscopy confirmed a large polypoidal ulcerating mass that was 15 cm from anal verge. Biopsy from the mass revealed conventional colonic adenocarcinoma merged with yolk sac component. This is the third reported case of a colonic adenocarcinoma with germ cell element of yolk sac tumor. The neoplasm metastasized to the liver as a yolk sac component. © 2019 Sir Ganga Ram Hospital. Published by Elsevier, a division of RELX India, Pvt. Ltd. All rights reserved.
Keywords: Colorectal adenocarcinoma Yolk sac tumor
1. Background Extra-gonadal germ cell tumors constitute a rare entity of germ cell neopalsm.1 The most common sites are the midline structures, namely mediastinum, retroperitoneum, sacrococcygeal region, and pineal gland.2 Extragonadal yolk sac tumors (YST) of the gastrointestinal tract are extremely rare neoplasms.3 They can present alone or associated with a conventional adenocarcinoma.4 Reports of colonic adenocarcinoma with yolk sac tumor are rare. To date, to our knowledge, only 2 cases have been reported in the English literature and this is the third reported case of a colonic adenocarcinoma with germ cell element of yolk sac tumor. The neoplasm metastasized as the yolk sac component. 2. Case presentation Eighteen years old female patient was admitted to Mansoura oncology center complaining of severe abdominal pain. The patient had experienced weight loss, fever, headache for the last two weeks. Patient's medical history was not significant. Physical examination revealed a distended abdomen with hepatomegaly with no abdominal mass. Alpha Fetoprotein >1200 IU/ml; b-human
* Corresponding author: 35516, Mansoura, Egypt. E-mail address: [email protected] (A.K. El-Hawary).
chorionic gonadotropin(HCG-beta)0.5 IU/L; CA-19-9 >1000 U/ml; CEA >1000 ng/ml. CT scans of the abdomen revealed markedly enlarged liver about 21 cm with homogenous echopattern showing multiple innumerable variable sized hyper-echoic non-enhanced focal lesions scattered in both liver lobes. Multiple enlarged porta hepatis, para-aortic, aortocaval and left external iliac LNs. Both ovaries and uterus looked normal. Thoracic CT scan showed no abnormalities. 2.1. Liver biopsy The patient underwent an ultrasound-guided biopsy of the liver. The biopsy specimen showed tumoral proliferation formed of atypical columnar cells arranged in glandular pattern with subnuclear and supranuclear cytoplasmic vacuoles resembling secretory endometrium (Fig. 1A). Theneoplastic cells were positive for glypican 3 (Fig. 1B), Placental alkaline phosphatase (PLAP) (Fig. 1C), Alpha feto-protein (AFP) (Fig. 1D),CK19, CK20, CDX2, EMA and negative for CK7. These findings were consistent with a metastatic yolk sac tumor. During cycles of chemotherapy, the patient presented with intestinal obstruction. On exploration, there was a rectal mass obstructing recto-sigmoid colon. Palliative ileostomy was done. Barium enema and colonoscopic examination revealed a large ulcerating mass 15 cm from anal verge. A biopsy from the mass was performed and the histological features of the specimen revealed a
https://doi.org/10.1016/j.cmrp.2019.11.007 2352-0817/© 2019 Sir Ganga Ram Hospital. Published by Elsevier, a division of RELX India, Pvt. Ltd. All rights reserved.
Please cite this article as: Abdel Fattah Zaki MM et al., Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report, Current Medicine Research and Practice, https://doi.org/10.1016/j.cmrp.2019.11.007
2
M.M. Abdel Fattah Zaki et al. / Current Medicine Research and Practice xxx (xxxx) xxx
Fig. 1. Liver biopsy showed tumoral proliferation formed of atypical columnar cells arranged in glandular pattern with subnuclear and supranuclear cytoplasmic vacuoles resembling secretory endometrium or secretory endometrioid carcinoma (H&Ex100) (A). The neoplastic cells are positive for glypican 3, x100(B); placental alkaline phosphatase,x100(C); Alpha feto-protein x100(D); CK19, x100 (E); CK20, x100 (F).
conventional adenocarcinoma merged with component of yolk sac tumor in the form of glandular pattern resembling secretory endometrioid carcinoma (Fig. 1A and B). Immunohistochemically, the yolk sac tumor component showed strong positive cytoplasmic staining for Glypican 3 (Fig. 2 C), PLAP (Fig. 2 D), AFP (Fig. 2 E), but were negative for carcinoembryonic antigen (CEA). The reverse for the conventional intestinal-type adenocarcinoma (Fig. 2D and E). So, the final diagnosis was colonic adenocarcinoma with germ cell element of yolk sac tumor. Unfortunately, the patient died shortly after the colonoscopy. 3. Discussion Reports of colonic adenocarcinoma with germ cell elements are rare in the English literature. Eight cases were choriocarcinoma in combination with adenocarcinoma, one of which also had yolk sac tumor elements.5 To our knowledge, only 2 cases of colonic adenocarcinoma with germ cell element of yolk sac tumor have
been reported. The first case was reported by Yu et al.,.6 The patient was 54-year-old male presented with 8 cm rectal mass that metastasized to liver and regional lymph nodesas germ cell component. The other case reported by Coleman et al.,7 was a 26year-old man with painful inguinal lymph node diagnosed as metastatic endodermal sinus tumor by pathological examination. Physical examination of the patient revealed circumferential mass in the rectum. No testicular mass was detected. Examination of the endoscopic biopsies of rectal mass revealed moderately differentiated adenocarcinoma typical of primary colorectal carcinoma with focal areas of germ-cell differentiation similar to the lymph node metastasis, with positivity for both CEA and AFP. Interestingly, as in our case, the metastases usually take the form of the germ cell element, suggesting that the more primitive component has the metastatic potential. Immunohistochemically, yolk sac tumors demonstrate reactivity to AFP,PLAP, and CK, but can be either non-reactive or reactive to CEA.4 The strong reactivity of the yolk sac components to AFP is
Please cite this article as: Abdel Fattah Zaki MM et al., Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report, Current Medicine Research and Practice, https://doi.org/10.1016/j.cmrp.2019.11.007
M.M. Abdel Fattah Zaki et al. / Current Medicine Research and Practice xxx (xxxx) xxx
3
Fig. 2. Rectal biopsy showed tumoral proliferation formed of yolk sac component (H&Ex10) (A) and adenocarcinoma (B) H&Ex100). The yolk sac component formed of atypical columnar cells arranged in glandular pattern with abundant clear cytoplasm. The neoplastic cells of yolk sac component are positive for glypican 3, x100 (C); placental alkaline phosphatase, x100(D); Alpha feto-protein x100 (E); CK19, x100 (F). In contrast, conventional adenocarcinoma glands are negative for placental alkaline phosphatase (D) and alpha feto-protein (E) (blue arrows).
particularly important, as adenocarcinoma components do not show AFP immunoreactivity.8 In our case, the metastasizing yolk sac components were positive for AFP, PLAP, CK20, CDX2, whereas the rectal tumor showed adenocarcinoma (positive for CEA and negative for AFP and PLAP) merged with yolk sac element (negative for CEA and positive for AFP and PLAP). Theoretically, such associations between two different types of cancers, i.e., adenocarcinoma and germ cell neoplasm, may be due to a collision tumor, arising from two separate neoplasms, or the combination tumor in which the various cell components may be derived from common stem cells.9 The case reported in the colon by Kawahara et al., 2009 appears to be in accordance with a combination tumor as both P53 and CDX2 were immune-positive in both the germ cell tumor and the adenocarcinoma. Similarly, Puglisi et al.,3 reported a case in the stomach in which both yolk sac and
adeno-carcinomatous histologic components showed p53 immunoreactivity. In addition, they performed PCR/SSCP analysis of p53 mutation and DNA sequencing and they observed the same mutation in yolk sac and adeno-carcinomatous neoplastic areas. 4. Conclusion We reported the third case of a colorectal adenocarcinoma with germ cell element of yolk sac tumor. The neoplasm metastasized to liver as a yolk sac component. This unique case is of value for reminding pathologists and oncologists to be aware of the diagnosis of extragonadal YST when a patient presents with a high level of AFP and hepatic metastases with radiologically free gonads. Making a careful differential diagnosis should be done so that the optimal therapy can be administered.
Please cite this article as: Abdel Fattah Zaki MM et al., Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report, Current Medicine Research and Practice, https://doi.org/10.1016/j.cmrp.2019.11.007
4
M.M. Abdel Fattah Zaki et al. / Current Medicine Research and Practice xxx (xxxx) xxx
References 1. Abdelhalim A, El-Hawary AK, Helmy TE, et al. Primary yolk sac tumor of the prostate in a child: case report. Clin Genitourin Cancer. 2016;14(5):e535ee537. 2. Bansal A, Mukhejee A, Kapoor R, Rohilla M. Extra-gonadal yolk sac tumour of the sigmoid colon: a rare entity. Clin Cancer Investig J. 2016;5:259e261. 3. Puglisi F, Damante G, Pizzolitto S, et al. Combined yolk sac tumor and adenocarcinoma in a gastric stump. Cancer. 1999;85(9):1910e1916. 4. Hong R, Suh CH, Lee MJ. Adenocarcinoma with yolk sac tumor of the stomach: case report with review of the literature and an immunohistochemical study. Korean J Pathol. 2007;41:352e357.
5. Petricek CM. Colonic adenocarcinoma metastasizing as a germ cell neoplasm A case report and review of the literature. Arch Pathol Lab Med. 2001;125:558e561. 6. Yu Y, Ogino T, Okada S. An alpha-fetoprotein-producing carcinoma of the rectum. Acta Pathol Jpn. 1992;42:684e687. 7. Coleman TA, Redger CD, Hamill RL, Dainer P. Rectal adenocarcinoma with germcell differentiation: report of a case. Dis Colon Rectum. 2003;46:1702e1705. 8. Napaki S. Combined yolk sac tumor and adenocarcinoma of the esophagogastric junction. Pathology. 2004;36:589e592. 9. Kamoi S, Ohaki Y, Mori O, et al. A case of ovarian endometrioid adenocarcinoma with yolk sac tumor component in a postmenopausal woman. APMIS. 2002;110: 508e514.
Please cite this article as: Abdel Fattah Zaki MM et al., Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report, Current Medicine Research and Practice, https://doi.org/10.1016/j.cmrp.2019.11.007
Contents lists available at ScienceDirect
Current Medicine Research and Practice journal homepage: www.elsevier.com/locate/cmrp
Case report
Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report Marwa Mohammed Abdel Fattah Zaki, Mie Ali Ali, Amira Kamal El-Hawary* Pathology Department, Faculty of Medicine, Mansoura University, Egypt
a r t i c l e i n f o
a b s t r a c t
Article history: Received 5 August 2019 Received in revised form 27 October 2019 Accepted 25 November 2019 Available online xxx
Reports of colonic adenocarcinoma with yolk sac tumor are rare. We reported a case of 18 years-old female patient admitted to Mansoura oncology center with severe abdominal pain. Physical examination revealed a distended abdomen with hepatomegaly with no abdominal mass. Computed tomographic (CT) scan of the abdomen revealed markedly enlarged liver with multiple innumerable variable sized hyper-echoic non-enhanced focal lesions. The patient underwent an ultrasound-guided biopsy of the liver that showed metastatic yolk sac tumor. Colonoscopy confirmed a large polypoidal ulcerating mass that was 15 cm from anal verge. Biopsy from the mass revealed conventional colonic adenocarcinoma merged with yolk sac component. This is the third reported case of a colonic adenocarcinoma with germ cell element of yolk sac tumor. The neoplasm metastasized to the liver as a yolk sac component. © 2019 Sir Ganga Ram Hospital. Published by Elsevier, a division of RELX India, Pvt. Ltd. All rights reserved.
Keywords: Colorectal adenocarcinoma Yolk sac tumor
1. Background Extra-gonadal germ cell tumors constitute a rare entity of germ cell neopalsm.1 The most common sites are the midline structures, namely mediastinum, retroperitoneum, sacrococcygeal region, and pineal gland.2 Extragonadal yolk sac tumors (YST) of the gastrointestinal tract are extremely rare neoplasms.3 They can present alone or associated with a conventional adenocarcinoma.4 Reports of colonic adenocarcinoma with yolk sac tumor are rare. To date, to our knowledge, only 2 cases have been reported in the English literature and this is the third reported case of a colonic adenocarcinoma with germ cell element of yolk sac tumor. The neoplasm metastasized as the yolk sac component. 2. Case presentation Eighteen years old female patient was admitted to Mansoura oncology center complaining of severe abdominal pain. The patient had experienced weight loss, fever, headache for the last two weeks. Patient's medical history was not significant. Physical examination revealed a distended abdomen with hepatomegaly with no abdominal mass. Alpha Fetoprotein >1200 IU/ml; b-human
* Corresponding author: 35516, Mansoura, Egypt. E-mail address: [email protected] (A.K. El-Hawary).
chorionic gonadotropin(HCG-beta)0.5 IU/L; CA-19-9 >1000 U/ml; CEA >1000 ng/ml. CT scans of the abdomen revealed markedly enlarged liver about 21 cm with homogenous echopattern showing multiple innumerable variable sized hyper-echoic non-enhanced focal lesions scattered in both liver lobes. Multiple enlarged porta hepatis, para-aortic, aortocaval and left external iliac LNs. Both ovaries and uterus looked normal. Thoracic CT scan showed no abnormalities. 2.1. Liver biopsy The patient underwent an ultrasound-guided biopsy of the liver. The biopsy specimen showed tumoral proliferation formed of atypical columnar cells arranged in glandular pattern with subnuclear and supranuclear cytoplasmic vacuoles resembling secretory endometrium (Fig. 1A). Theneoplastic cells were positive for glypican 3 (Fig. 1B), Placental alkaline phosphatase (PLAP) (Fig. 1C), Alpha feto-protein (AFP) (Fig. 1D),CK19, CK20, CDX2, EMA and negative for CK7. These findings were consistent with a metastatic yolk sac tumor. During cycles of chemotherapy, the patient presented with intestinal obstruction. On exploration, there was a rectal mass obstructing recto-sigmoid colon. Palliative ileostomy was done. Barium enema and colonoscopic examination revealed a large ulcerating mass 15 cm from anal verge. A biopsy from the mass was performed and the histological features of the specimen revealed a
https://doi.org/10.1016/j.cmrp.2019.11.007 2352-0817/© 2019 Sir Ganga Ram Hospital. Published by Elsevier, a division of RELX India, Pvt. Ltd. All rights reserved.
Please cite this article as: Abdel Fattah Zaki MM et al., Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report, Current Medicine Research and Practice, https://doi.org/10.1016/j.cmrp.2019.11.007
2
M.M. Abdel Fattah Zaki et al. / Current Medicine Research and Practice xxx (xxxx) xxx
Fig. 1. Liver biopsy showed tumoral proliferation formed of atypical columnar cells arranged in glandular pattern with subnuclear and supranuclear cytoplasmic vacuoles resembling secretory endometrium or secretory endometrioid carcinoma (H&Ex100) (A). The neoplastic cells are positive for glypican 3, x100(B); placental alkaline phosphatase,x100(C); Alpha feto-protein x100(D); CK19, x100 (E); CK20, x100 (F).
conventional adenocarcinoma merged with component of yolk sac tumor in the form of glandular pattern resembling secretory endometrioid carcinoma (Fig. 1A and B). Immunohistochemically, the yolk sac tumor component showed strong positive cytoplasmic staining for Glypican 3 (Fig. 2 C), PLAP (Fig. 2 D), AFP (Fig. 2 E), but were negative for carcinoembryonic antigen (CEA). The reverse for the conventional intestinal-type adenocarcinoma (Fig. 2D and E). So, the final diagnosis was colonic adenocarcinoma with germ cell element of yolk sac tumor. Unfortunately, the patient died shortly after the colonoscopy. 3. Discussion Reports of colonic adenocarcinoma with germ cell elements are rare in the English literature. Eight cases were choriocarcinoma in combination with adenocarcinoma, one of which also had yolk sac tumor elements.5 To our knowledge, only 2 cases of colonic adenocarcinoma with germ cell element of yolk sac tumor have
been reported. The first case was reported by Yu et al.,.6 The patient was 54-year-old male presented with 8 cm rectal mass that metastasized to liver and regional lymph nodesas germ cell component. The other case reported by Coleman et al.,7 was a 26year-old man with painful inguinal lymph node diagnosed as metastatic endodermal sinus tumor by pathological examination. Physical examination of the patient revealed circumferential mass in the rectum. No testicular mass was detected. Examination of the endoscopic biopsies of rectal mass revealed moderately differentiated adenocarcinoma typical of primary colorectal carcinoma with focal areas of germ-cell differentiation similar to the lymph node metastasis, with positivity for both CEA and AFP. Interestingly, as in our case, the metastases usually take the form of the germ cell element, suggesting that the more primitive component has the metastatic potential. Immunohistochemically, yolk sac tumors demonstrate reactivity to AFP,PLAP, and CK, but can be either non-reactive or reactive to CEA.4 The strong reactivity of the yolk sac components to AFP is
Please cite this article as: Abdel Fattah Zaki MM et al., Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report, Current Medicine Research and Practice, https://doi.org/10.1016/j.cmrp.2019.11.007
M.M. Abdel Fattah Zaki et al. / Current Medicine Research and Practice xxx (xxxx) xxx
3
Fig. 2. Rectal biopsy showed tumoral proliferation formed of yolk sac component (H&Ex10) (A) and adenocarcinoma (B) H&Ex100). The yolk sac component formed of atypical columnar cells arranged in glandular pattern with abundant clear cytoplasm. The neoplastic cells of yolk sac component are positive for glypican 3, x100 (C); placental alkaline phosphatase, x100(D); Alpha feto-protein x100 (E); CK19, x100 (F). In contrast, conventional adenocarcinoma glands are negative for placental alkaline phosphatase (D) and alpha feto-protein (E) (blue arrows).
particularly important, as adenocarcinoma components do not show AFP immunoreactivity.8 In our case, the metastasizing yolk sac components were positive for AFP, PLAP, CK20, CDX2, whereas the rectal tumor showed adenocarcinoma (positive for CEA and negative for AFP and PLAP) merged with yolk sac element (negative for CEA and positive for AFP and PLAP). Theoretically, such associations between two different types of cancers, i.e., adenocarcinoma and germ cell neoplasm, may be due to a collision tumor, arising from two separate neoplasms, or the combination tumor in which the various cell components may be derived from common stem cells.9 The case reported in the colon by Kawahara et al., 2009 appears to be in accordance with a combination tumor as both P53 and CDX2 were immune-positive in both the germ cell tumor and the adenocarcinoma. Similarly, Puglisi et al.,3 reported a case in the stomach in which both yolk sac and
adeno-carcinomatous histologic components showed p53 immunoreactivity. In addition, they performed PCR/SSCP analysis of p53 mutation and DNA sequencing and they observed the same mutation in yolk sac and adeno-carcinomatous neoplastic areas. 4. Conclusion We reported the third case of a colorectal adenocarcinoma with germ cell element of yolk sac tumor. The neoplasm metastasized to liver as a yolk sac component. This unique case is of value for reminding pathologists and oncologists to be aware of the diagnosis of extragonadal YST when a patient presents with a high level of AFP and hepatic metastases with radiologically free gonads. Making a careful differential diagnosis should be done so that the optimal therapy can be administered.
Please cite this article as: Abdel Fattah Zaki MM et al., Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report, Current Medicine Research and Practice, https://doi.org/10.1016/j.cmrp.2019.11.007
4
M.M. Abdel Fattah Zaki et al. / Current Medicine Research and Practice xxx (xxxx) xxx
References 1. Abdelhalim A, El-Hawary AK, Helmy TE, et al. Primary yolk sac tumor of the prostate in a child: case report. Clin Genitourin Cancer. 2016;14(5):e535ee537. 2. Bansal A, Mukhejee A, Kapoor R, Rohilla M. Extra-gonadal yolk sac tumour of the sigmoid colon: a rare entity. Clin Cancer Investig J. 2016;5:259e261. 3. Puglisi F, Damante G, Pizzolitto S, et al. Combined yolk sac tumor and adenocarcinoma in a gastric stump. Cancer. 1999;85(9):1910e1916. 4. Hong R, Suh CH, Lee MJ. Adenocarcinoma with yolk sac tumor of the stomach: case report with review of the literature and an immunohistochemical study. Korean J Pathol. 2007;41:352e357.
5. Petricek CM. Colonic adenocarcinoma metastasizing as a germ cell neoplasm A case report and review of the literature. Arch Pathol Lab Med. 2001;125:558e561. 6. Yu Y, Ogino T, Okada S. An alpha-fetoprotein-producing carcinoma of the rectum. Acta Pathol Jpn. 1992;42:684e687. 7. Coleman TA, Redger CD, Hamill RL, Dainer P. Rectal adenocarcinoma with germcell differentiation: report of a case. Dis Colon Rectum. 2003;46:1702e1705. 8. Napaki S. Combined yolk sac tumor and adenocarcinoma of the esophagogastric junction. Pathology. 2004;36:589e592. 9. Kamoi S, Ohaki Y, Mori O, et al. A case of ovarian endometrioid adenocarcinoma with yolk sac tumor component in a postmenopausal woman. APMIS. 2002;110: 508e514.
Please cite this article as: Abdel Fattah Zaki MM et al., Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report, Current Medicine Research and Practice, https://doi.org/10.1016/j.cmrp.2019.11.007