胃肠道血管周上皮样细胞肿瘤的研究进展
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摘要
血管周上皮样细胞瘤是一种罕见的间叶组织肿瘤,由组织学和免疫组织化学有独特表现的血管周上皮样细胞组成,良性多见,好发于成年女性。血管周上皮样细胞瘤主要起源于女性的子宫,可发生于肺、肝、肾脏、膀胱及胃肠道等部位。血管周上皮样细胞瘤肿瘤家族包括血管平滑肌脂肪瘤、肺及肺外组织的透明细胞糖瘤、淋巴管平滑肌瘤病及镰状韧带/韧带的透明细胞肌黑质细胞瘤。血管周上皮样细胞瘤的临床表现缺乏特异性,发病机制不明,病理学上具有独特的形态,对肌细胞和黑素细胞标记具有免疫反应性。发生于胃肠道的血管周上皮样细胞瘤少见,该文就发生于胃肠道的血管周上皮样细胞瘤的临床表现、临床病理特征、诊断、治疗及预后做一综述。
Perivascular epithelioid cell tumor is a rare mesenchymal tumor composed of unique histological and immunohistochemical perivascular epithelioid cells, which is benign more than malignant and frequently occurs in adult women. Perivascular epithelioid cell tumor mainly originates from the female uterus and can occur in other parts such as lung, liver, kidney, bladder and gastrointestinal tract. The family of perivascular epithelioid cell tumor tumors include angiomyolipoma(AML), clear cell "sugar" tumors(CCST) of lung and extrapulmonary tissues, lymphangioleiomyomatosis(LAM) and clear cell myomelanocytic tumor(CCMMT) in falciform ligament/ligaments. However, the clinical manifestations of perivascular epithelioid cell tumor are lack of specificity, and the pathogenesis is unknown. It has unique morphological features and immunoreactivity for myocytes markers and melanocyte markers. Perivascular epithelioid cell tumor, which occurs in the gastrointestinal tract, were rare. In this review, we carry out a comprehensive survey based on published data and discuss our current understanding of the clinicopathologic features, diagnosis and differential diagnosis, treatment and prognosis of perivascular epithelioid cell tumor occurring in the gastrointestinal tract.
Perivascular epithelioid cell tumor is a rare mesenchymal tumor composed of unique histological and immunohistochemical perivascular epithelioid cells, which is benign more than malignant and frequently occurs in adult women. Perivascular epithelioid cell tumor mainly originates from the female uterus and can occur in other parts such as lung, liver, kidney, bladder and gastrointestinal tract. The family of perivascular epithelioid cell tumor tumors include angiomyolipoma(AML), clear cell "sugar" tumors(CCST) of lung and extrapulmonary tissues, lymphangioleiomyomatosis(LAM) and clear cell myomelanocytic tumor(CCMMT) in falciform ligament/ligaments. However, the clinical manifestations of perivascular epithelioid cell tumor are lack of specificity, and the pathogenesis is unknown. It has unique morphological features and immunoreactivity for myocytes markers and melanocyte markers. Perivascular epithelioid cell tumor, which occurs in the gastrointestinal tract, were rare. In this review, we carry out a comprehensive survey based on published data and discuss our current understanding of the clinicopathologic features, diagnosis and differential diagnosis, treatment and prognosis of perivascular epithelioid cell tumor occurring in the gastrointestinal tract.
引文
[1]THWAY K,FISHER C.PEComa:morphology and genetics of a complex tumor family[J].Annals of Diagnostic Pathology,2015,19(5):359-368.
[2]ROK D,DRAGAN M,PETER P.Hepatic perivascular epithelioid cell tumor:a case report[J].European Journal of Radiology Open,2018,5:121-125.
[3]TYNSKI Z,CHIANG W,BARRETT A.An Inguinal perivascular epithelioid cell tumor metastatic to the orbit[J].Case Reports in Pathology,2018:DOI:10.1155/2018/5749421.
[4]ZIZZO M,UGOLETTI L,TUMIATI D,et al.Primary pancreatic perivascular epithelioid cell tumor(PEComa):a surgical enigma.A systematic review of the literature[J].Pancreatology:Official Journal of the International Association of Pancreatology,2018,18(3):238-245.
[5]BONETTI F,PEA M,MARTIGNONI G,et al.PEC and sugar[J].American Journal of Surgical Pathology,1992,16(3):307-308.
[6]ZAMBONI G,PEA M,MARTIGNONI G,et al.Clear cell"sugar"tumor of the pancreas.a novel member of the family of lesions characterized by the presence of perivascular epithelioid cells.[J].American Journal of Surgical Pathology,1996,20(6):722-730.
[7]FOLPE A L.Neoplasms with perivascular epithelioid cell differentiation(PEComas).[M].Lyon:IARC Press,2002:221-222.
[8]CHEN Z,SHI H,PENG J,et al.Perivascular epithelioid cell tumor in the duodenum:challenge in differential diagnosis[J].International Journal of Clinical Experimental Pathology,2015,8(7):8555.
[9]CHEN Z,HAN S,WU J,et al.A systematic review:perivascular epithelioid cell tumor of gastrointestinal tract[J].Medicine,2016,95(28):DOI:10.1097/MD.0000000000003890.
[10]BALTA S,WALLACE S.Perivascular epithelioid cell tumour of the rectum:,uncommon tumour in unusual location[J].Pathology,2015,47:S60.
[11]UNLUOGLU S,BAYOL U,KORKMAZ N,et al.Perivascular epithelioid cell tumor of the ileum presenting as diverticulitis[J].Case Reports in Pathology,2012(1):DOI:10.1155/2012/476941.
[12]TAN Y,ZHANG H,XIAO E H.Perivascular epithelioid cell tumour:dynamic CT,MRI and clinicopathological characteristicsanalysis of 32 cases and review of the literature[J].Clinical Radiology,2013,68(6):555-561.
[13]PRASAD M L,KEATING J P,TEOH H H,et al.Pleomorphic angiomyolipoma of digestive tract:a heretofore unrecognized entity[J].International Journal of Surgical Pathology,2000,8(1):67.
[14]FASSAN M,CASSARO M,VECCHIATO M,et al.Malignant perivascular epithelioid cell tumor of the esophagus[J].Case Reports in Pathology,2012(4):DOI:10.1155/2012/438505.
[15]FOLPE A L,MENTZEL T,LEHR H A,et al.Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin:a clinicopathologic study of 26 cases and review of the literature[J].American Journal of Surgical Pathology,2005,29(12):1558-1575.
[16]WATERS P S,MITCHELL D P,MURPHY R,et al.Primary malignant gastric PEComa-diagnostic and technical dilemmas[J].International Journal of Surgery Case Reports,2012,3(2):89-91.
[17]ALVARADO-CABRERO I,VáZQUEZ G,SANTIESTEBAN FI S,et al.Clinicopathologic study of 275 cases of gastrointestinal stromal tumors:the experience at 3 large medical centers in Mexico[J].Annals of Diagnostic Pathology,2007,11(1):39-45.
[18]TORII I,KONDO N,TAKUWA T,et al.Perivascular epithelioid cell tumor of the rib[J].Virchows Archiv,2008,452(6):697-702.
[19]LEE M,CHO K J,YU C,et al.Perivascular epithelioid cell tumor of the sigmoid colon with transcription factor E3 expression[J].Annals of Diagnostic Pathology,2012,16(4):306-311.
[20]PIZZI M,DI L I,D'AMORE E S,et al.Pediatric Gastrointestinal PEComas:a diagnostic challenge[J].Pediatric Developmental Pathology,2014,17(5):406-408.
[21]RAO Q,SHEN Q,XIAQ Y,et al.PSF/SFPQ is a very common gene fusion partner in TFE3 rearrangementassociated perivascular epithelioid cell tumors(PEComas)and melanotic Xp11 translocation renal cancers:clinicopathologic,immunohistochemical,and molecular characteristics suggesting classification as a distinct entity[J].Am JSurg Pathol,2015,39(9):1181-1196.
[22]TANAKA M,KATO K,GOMI K,et al.Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma[J].American Journal of Surgical Pathology,2009,33(9):1416-1420.
[23]MALINOWSKA I,KWIATKOWSKI D J,WEISS S,et al.Perivascular epithelioid cell tumors(PEComas)harboring TFE3gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas:further evidence for a biological distinction[J].American Journal of Surgical Pathology,2012,36(5):783.
[24]SCHEPPACH W,REISSMANN N,SPRINZ T,et al.PEComa of the colon resistant to sirolimus but responsive to doxorubicin/ifosfamide[J].World Journal of Gastroenterology,2013,19(10):1657.
[25]JUVET S C,MCCORMACK F X,KWIATKOWSKI D J,et al.Molecular pathogenesis of lymphangioleiomyomatosis:lessons learned from orphans[J].Am J Respir Cell Mol Biol,2007,36(4):398-408.
[26]LIN R J,MELAMED J,WU J.PEComa with transcription factor E3 overexpression:a diagnostic and therapeutic challenge[J].Case Rep Oncol,2017,10(2):531-533.
[27]MARTIGNONI G,PEA M,REGHELLIN D,et al.PEComas:the past,the present and the future[J].Virchows Arch,2008,452:119-132.
[28]HORNICK J L,FLETCHER C D.Sclerosing PEComa:clinicopathologic analysis of a distinctive variant with a predilection for the retroperitoneum[J].American Journal of Surgical Pathology,2008,32(4):493-501.
[29]FOLPE A L,KWIATKOWSKI D J.Perivascular epithelioid cell neoplasms:pathology and pathogenesis[J].Human Pathology,2010,41(1):1-15.
[30]ARGANI P,AULMANN S,ILLEI P B,et al.A distinctive subset of PEComas harbors TFE3 gene fusions[J].Chinese Journal of Clinical Experimental Pathology,2010,34(10):1395-1406.
[31]IWAMOTO R,KATAOKA T R,FURUHATA A,et al.Perivascular epithelioid cell tumor of the descending colon mimicking a gastrointestinal stromal tumor:a case report[J].World Journal of Surgical Oncology,2016,14(1):285.
[32]PARK S J,HAN D K,BAEK H J,et al.Perivascular epithelioid cell tumor(PEComa)of the ascending colon:the implication of IFN-α2b treatment[J].Korean J Pediatr,2010,53(11):975-978.
[33]IM S,YOO C,JUNG J H,et al.Primary perivascular epithelioid cell tumor in the rectum:a case report and review of the literature[J].Pathology-Research and Practice,2013,209(4):244-248.
[34]LIN K H,CHANG N J,LIOU L R,et al.Successful management of perivascular epithelioid cell tumor of the rectum with recurrent liver metastases:a case report[J].Medicine,2018,97(31):DOI:10.1097/MD.0000000000011679.
[35]FREEMAN H J,WEBBER D L.Perivascular epithelioid cell neoplasm of the colon[J].World Journal of Gastrointestinal Oncology,2010,2(4):205-208.
[36]HUMANES R S,CARDENAS E M S,FERNANDEZ A I L,et al.PEComa of the colon presentation of a case and review of the literature[J].J Hepatol Gastroint Dis,2016,2(115):2.
[2]ROK D,DRAGAN M,PETER P.Hepatic perivascular epithelioid cell tumor:a case report[J].European Journal of Radiology Open,2018,5:121-125.
[3]TYNSKI Z,CHIANG W,BARRETT A.An Inguinal perivascular epithelioid cell tumor metastatic to the orbit[J].Case Reports in Pathology,2018:DOI:10.1155/2018/5749421.
[4]ZIZZO M,UGOLETTI L,TUMIATI D,et al.Primary pancreatic perivascular epithelioid cell tumor(PEComa):a surgical enigma.A systematic review of the literature[J].Pancreatology:Official Journal of the International Association of Pancreatology,2018,18(3):238-245.
[5]BONETTI F,PEA M,MARTIGNONI G,et al.PEC and sugar[J].American Journal of Surgical Pathology,1992,16(3):307-308.
[6]ZAMBONI G,PEA M,MARTIGNONI G,et al.Clear cell"sugar"tumor of the pancreas.a novel member of the family of lesions characterized by the presence of perivascular epithelioid cells.[J].American Journal of Surgical Pathology,1996,20(6):722-730.
[7]FOLPE A L.Neoplasms with perivascular epithelioid cell differentiation(PEComas).[M].Lyon:IARC Press,2002:221-222.
[8]CHEN Z,SHI H,PENG J,et al.Perivascular epithelioid cell tumor in the duodenum:challenge in differential diagnosis[J].International Journal of Clinical Experimental Pathology,2015,8(7):8555.
[9]CHEN Z,HAN S,WU J,et al.A systematic review:perivascular epithelioid cell tumor of gastrointestinal tract[J].Medicine,2016,95(28):DOI:10.1097/MD.0000000000003890.
[10]BALTA S,WALLACE S.Perivascular epithelioid cell tumour of the rectum:,uncommon tumour in unusual location[J].Pathology,2015,47:S60.
[11]UNLUOGLU S,BAYOL U,KORKMAZ N,et al.Perivascular epithelioid cell tumor of the ileum presenting as diverticulitis[J].Case Reports in Pathology,2012(1):DOI:10.1155/2012/476941.
[12]TAN Y,ZHANG H,XIAO E H.Perivascular epithelioid cell tumour:dynamic CT,MRI and clinicopathological characteristicsanalysis of 32 cases and review of the literature[J].Clinical Radiology,2013,68(6):555-561.
[13]PRASAD M L,KEATING J P,TEOH H H,et al.Pleomorphic angiomyolipoma of digestive tract:a heretofore unrecognized entity[J].International Journal of Surgical Pathology,2000,8(1):67.
[14]FASSAN M,CASSARO M,VECCHIATO M,et al.Malignant perivascular epithelioid cell tumor of the esophagus[J].Case Reports in Pathology,2012(4):DOI:10.1155/2012/438505.
[15]FOLPE A L,MENTZEL T,LEHR H A,et al.Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin:a clinicopathologic study of 26 cases and review of the literature[J].American Journal of Surgical Pathology,2005,29(12):1558-1575.
[16]WATERS P S,MITCHELL D P,MURPHY R,et al.Primary malignant gastric PEComa-diagnostic and technical dilemmas[J].International Journal of Surgery Case Reports,2012,3(2):89-91.
[17]ALVARADO-CABRERO I,VáZQUEZ G,SANTIESTEBAN FI S,et al.Clinicopathologic study of 275 cases of gastrointestinal stromal tumors:the experience at 3 large medical centers in Mexico[J].Annals of Diagnostic Pathology,2007,11(1):39-45.
[18]TORII I,KONDO N,TAKUWA T,et al.Perivascular epithelioid cell tumor of the rib[J].Virchows Archiv,2008,452(6):697-702.
[19]LEE M,CHO K J,YU C,et al.Perivascular epithelioid cell tumor of the sigmoid colon with transcription factor E3 expression[J].Annals of Diagnostic Pathology,2012,16(4):306-311.
[20]PIZZI M,DI L I,D'AMORE E S,et al.Pediatric Gastrointestinal PEComas:a diagnostic challenge[J].Pediatric Developmental Pathology,2014,17(5):406-408.
[21]RAO Q,SHEN Q,XIAQ Y,et al.PSF/SFPQ is a very common gene fusion partner in TFE3 rearrangementassociated perivascular epithelioid cell tumors(PEComas)and melanotic Xp11 translocation renal cancers:clinicopathologic,immunohistochemical,and molecular characteristics suggesting classification as a distinct entity[J].Am JSurg Pathol,2015,39(9):1181-1196.
[22]TANAKA M,KATO K,GOMI K,et al.Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma[J].American Journal of Surgical Pathology,2009,33(9):1416-1420.
[23]MALINOWSKA I,KWIATKOWSKI D J,WEISS S,et al.Perivascular epithelioid cell tumors(PEComas)harboring TFE3gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas:further evidence for a biological distinction[J].American Journal of Surgical Pathology,2012,36(5):783.
[24]SCHEPPACH W,REISSMANN N,SPRINZ T,et al.PEComa of the colon resistant to sirolimus but responsive to doxorubicin/ifosfamide[J].World Journal of Gastroenterology,2013,19(10):1657.
[25]JUVET S C,MCCORMACK F X,KWIATKOWSKI D J,et al.Molecular pathogenesis of lymphangioleiomyomatosis:lessons learned from orphans[J].Am J Respir Cell Mol Biol,2007,36(4):398-408.
[26]LIN R J,MELAMED J,WU J.PEComa with transcription factor E3 overexpression:a diagnostic and therapeutic challenge[J].Case Rep Oncol,2017,10(2):531-533.
[27]MARTIGNONI G,PEA M,REGHELLIN D,et al.PEComas:the past,the present and the future[J].Virchows Arch,2008,452:119-132.
[28]HORNICK J L,FLETCHER C D.Sclerosing PEComa:clinicopathologic analysis of a distinctive variant with a predilection for the retroperitoneum[J].American Journal of Surgical Pathology,2008,32(4):493-501.
[29]FOLPE A L,KWIATKOWSKI D J.Perivascular epithelioid cell neoplasms:pathology and pathogenesis[J].Human Pathology,2010,41(1):1-15.
[30]ARGANI P,AULMANN S,ILLEI P B,et al.A distinctive subset of PEComas harbors TFE3 gene fusions[J].Chinese Journal of Clinical Experimental Pathology,2010,34(10):1395-1406.
[31]IWAMOTO R,KATAOKA T R,FURUHATA A,et al.Perivascular epithelioid cell tumor of the descending colon mimicking a gastrointestinal stromal tumor:a case report[J].World Journal of Surgical Oncology,2016,14(1):285.
[32]PARK S J,HAN D K,BAEK H J,et al.Perivascular epithelioid cell tumor(PEComa)of the ascending colon:the implication of IFN-α2b treatment[J].Korean J Pediatr,2010,53(11):975-978.
[33]IM S,YOO C,JUNG J H,et al.Primary perivascular epithelioid cell tumor in the rectum:a case report and review of the literature[J].Pathology-Research and Practice,2013,209(4):244-248.
[34]LIN K H,CHANG N J,LIOU L R,et al.Successful management of perivascular epithelioid cell tumor of the rectum with recurrent liver metastases:a case report[J].Medicine,2018,97(31):DOI:10.1097/MD.0000000000011679.
[35]FREEMAN H J,WEBBER D L.Perivascular epithelioid cell neoplasm of the colon[J].World Journal of Gastrointestinal Oncology,2010,2(4):205-208.
[36]HUMANES R S,CARDENAS E M S,FERNANDEZ A I L,et al.PEComa of the colon presentation of a case and review of the literature[J].J Hepatol Gastroint Dis,2016,2(115):2.