Vascular bone tumors: a proposal of a classification based on clinicopathological, radiographic and genetic features

详细信息    查看全文

• 作者：Costantino Errani (14) costantino.errani@ior.it
  Daniel Vanel (2)
  Marco Gambarotti (2)
  Marco Alberghini (2)
  Piero Picci (3)
  Cesare Faldini (1)
• 关键词：Vascular bone tumors &#8211 ; Hemangioma &#8211 ; Epithelioid hemangioma &#8211 ; Hemangioendothelioma &#8211 ; Epithelioid hemangioendothelioma &#8211 ; Angiosarcoma &#8211 ; Epithelioid angiosarcoma
• 刊名：Skeletal Radiology
• 出版年：2012
• 出版时间：December 2012
• 年：2012
• 卷：41
• 期：12
• 页码：1495-1507
• 全文大小：1.1 MB
• 参考文献：1. Folpe AL, Chand EM, Goldblum JR, Weiss SW. Expression of Fli-1, a nuclear transcription factor, distinguishes vascular neoplasms from potential mimics. Am J Surg Pathol. 2001;25(8):1061–6.
  2. O’Connell JX, Nielsen GP, Rosenberg AE. Epithelioid vascular tumors of bone: a review and proposal of a classification scheme. Adv Anat Pathol. 2001;8(2):74–82.
  3. Evans HL, Raymond AK, Ayala AG. Vascular tumors of bone: a study of 17 cases other than ordinary hemangioma, with an evaluation of the relationship of hemangioendothelioma of bone to epithelioid hemangioma, epithelioid hemangioendothelioma, and high-grade angiosarcoma. Hum Pathol. 2003;34(7):680–9.
  4. World Health Organization Classification of Tumors. Pathology and genetics of tumors of soft tissue and bone. Lyon: IARC Press; 2002.
  5. Errani C, Zhang L, Sung YS, Hajdu M, Singer S, Maki RG, Healey JH, Antonescu CR. A novel WWTR1-CAMTA1 gene fusion is consistent abnormality in epithelioid hemangioendotelioma of different anatomic sites. Gene Chromosome Cancer. 2011;50(8):644–53. doi:
  6. Deyrup AT, Montag AG. Epithelioid and epithelial neoplasm of bone. Arch Pathol Lab Med. 2007;131(2):205–16.
  7. Wenger DE, Wold LE. Benign vascular lesions of bone: radiologic and pathologic features. Skeletal Radiol. 2000;29(2):63–74.
  8. Campanacci M. Bone and soft tissue tumors. 2nd ed. New York: Springer; 1999.
  9. Kaleem Z, Kyriakos M, Totty WG. Solitary skeletal hemangioma of the extremities. Skeletal Radiol. 2000;29(9):502–13.
  10. Italiano A, Thomas R, Breen M, Zhang L, Crago AM, Singer S, Khanin R, Maki RG, Mihailovic A, Hafner M, Tuschl T, Antonescu CR. The miR-17-92 cluster and its target THBS1 are differentially expressed in angiosarcomas dependent on MYC amplification. Genes Chromosomes Cancer. 2012;51(6):569–78.
  11. Calicchio ML, Collins T, Kozakewich HP. Identification of signaling systems in proliferating and involuting phase infantile hemangiomas by genome-wide transcriptional profiling. Am J Pathol. 2009;174(5):1638–49.
  12. Wu JK, Adepoju O, De Silva D, Baribault K, Boscolo E, Bischoff J, Kitajewski J. A switch in Notch gene expression parallels stem cell to endothelial transition in infantile hemangioma. Angiogenesis. 2010;13(1):15–23.
  13. Adepoju O, Wong A, Kitajewski A, Tong K, Boscolo E, Bischoff J, Kitajewski J, Wu JK. Expression of HES and HEY genes in infantile hemangiomas. Vasc Cell. 2011;3:19.
  14. Mihm Jr MC, Nelson JS. Hypothesis: the metastatic niche theory can elucidate infantile hemangioma development. J Cutan Pathol. 2010;37 [Suppl 1]:83–7.
  15. North PE, Waner M, Mizeracki A, Mrak RE, Nicholas R, Kincannon J, Suen JY, Mihm Jr MC. A unique microvascular phenotype shared by juvenile hemangiomas and human placenta. Arch Dermatol. 2001;137(5):559–70.
  16. Barn茅s CM, Huang S, Kaipainen A, Sanoudou D, Chen EJ, Eichler GS, Guo Y, Yu Y, Ingber DE, Mulliken JB, Beggs AH, Folkman J, Fishman SJ. Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc Natl Acad Sci U S A. 2005;102(52):19097–102.
  17. Errani C, Sung YS, Zhang L, Healey JH, Antonescu CR. Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints. Cancer Genet. 2012;205(1–2):12–7.
  18. Kaplan RN, Riba RD, Zacharoulis S, et al. VEGFR1-positive haematopoietic bone marrow progenitors initiate the pre-metastatic niche. Nature. 2005;438(7069):820–7.
  19. Blecher R, Smorgick Y, Anekstein Y, Peer A, Mirovsky Y. Management of symptomatic vertebral hemangioma: follow-up of 6 patients. J Spinal Disord Tech. 2001;24(3):196–201.
  20. Nielsen GP, Srivastava A, Kattapuram S, Deshpande V, O’Connell JX, Mangham CD, Rosenberg AE. Epithelioid hemangioma of bone revisited: a study of 50 cases. Am J Surg Pathol. 2009;33(2):270–7.
  21. Sung MS, Kim YS, Resnick D. Epithelioid hemangioma of bone. Skeletal Radiol. 2000;29(9):530–4.
  22. Floris G, Deraedt K, Samson I, Brys P, Sciot R. Epithelioid hemangioma of bone: a potentially metastasizing tumor? Int J Surg Pathol. 2006;14(1):9–15. discussion 16–20.
  23. Gupta A, Saifuddin A, Briggs TW, Flanagan AM. Subperiosteal hemangioendothelioma of the femur. Skeletal Radiol. 2006;35(10):793–6.
  24. Shah ZK, Peh WC, Shek TW, Wong JW, Chien EP. Hemangioendothelioma with an epithelioid phenotype arising in hemangioma of the fibula. Skeletal Radiol. 2005;34(11):750–4.
  25. O’Connell JX, Kattapuram SV, Mankin HJ, Bhan AK, Rosenberg AE. Epithelioid hemangioma of bone. A tumor often mistaken for low-grade angiosarcoma or malignant hemangioendothelioma. Am J Surg Pathol. 1993;17(6):610–7.
  26. Errani C, Zhang L, Panicek DM, Healey JH, Antonescu CR. Epithelioid hemangioma of bone and soft tissue: a reappraisal of a controversial entity. Clin Orthop Relat Res. 2012;470(5):1498–506.
  27. Errani C, Ruggieri P, Asenzio MA, Toscano A, Colangeli S, Rimondi E, Rossi G, Longhi A, Mercuri M. Giant cell tumor of the extremity: a review of 349 cases from a single institution. Cancer Treat Rev. 2010;36(1):1–7.
  28. Klenke FM, Wenger DE, Inwards CY, Rose PS, Sim FH. Giant cell tumor of bone: risk factors for recurrence. Clin Orthop Relat Res. 2011;469(2):591–9.
  29. Wenger DE, Wold LE. Malignant vascular lesions of bone: radiologic and pathologic features. Skeletal Radiol. 2000;29(11):619–31.
  30. Bov茅e JV, Hogendoorn PC. Molecular pathology of sarcomas: concepts and clinical implications. Virchows Arch. 2010;456(2):193–9.
  31. Murali R, Zarka MA, Ocal IT, Tazelaar HD. Cytologic features of epithelioid hemangioendothelioma. Am J Clin Pathol. 2011;136(5):739–46.
  32. Antonescu CR, Elahi A, Healey JH, Brennan MF, Lui MY, Lewis J, Jhanwar SC, Woodruff JM, Ladanyi M. Monoclonality of multifocal myxoid liposarcoma: confirmation by analysis of TLS-CHOP or EWS-CHOP rearrangements. Clin Cancer Res. 2000;6(7):2788–93.
  33. Barbashina V, Salazar P, Holland EC, Rosenblum MK, Ladanyi M. Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene. Clin Cancer Res. 2005;11(3):1119–28.
  34. Henrich KO, Fischer M, Mertens D, Benner A, Wiedemeyer R, Brors B, Oberthuer A, Berthold F, Wei JS, Khan J, Schwab M, Westermann F. Reduced expression of CAMTA1 correlates with adverse outcome in neuroblastoma patients. Clin Cancer Res. 2006;12(1):131–8.
  35. Lei QY, Zhang H, Zhao B, Zha ZY, Bai F, Pei XH, Zhao S, Xiong Y, Guan KL. TAZ promotes cell proliferation and epithelial–mesenchymal transition and is inhibited by the hippo pathway. Mol Cell Biol. 2008;28(7):2426–36.
  36. Chan SW, Lim CJ, Loo LS, Chong YF, Huang C, Hong W. TEADs mediate nuclear retention of TAZ to promote oncogenic transformation. J Biol Chem. 2009;284(21):14347–58.
  37. Zhang H, Liu CY, Zha ZY, Zhao B, Yao J, Zhao S, Xiong Y, Lei QY, Guan KL. TEAD transcription factors mediate the function of TAZ in cell growth and epithelial–mesenchymal transition. J Biol Chem. 2009;284(20):13355–62.
  38. Lau K, Massad M, Pollak C, Rubin C, Yeh J, Wang J, Edelman G, Yeh J, Prasad S, Weinberg G. Clinical patterns and outcome in epithelioid hemangioendothelioma with or without pulmonary involvement: insights from an internet registry in the study of a rare cancer. Chest. 2011;140(5):1312–8.
  39. Paget S. The distribution of secondary growths in cancer of the breast. 1889. Cancer Metastasis Rev. 1989;8(2):98–101.
  40. Kaplan RN, Rafii S, Lyden D. Preparing the “soil”: the premetastatic niche. Cancer Res. 2006;66(23):11089–93.
  41. Gupta GP, Massagu茅 J. Cancer metastasis: building a framework. Cell. 2006;127(4):679–95.
  42. Norton L, Massagu茅 J. Is cancer a disease of self-seeding? Nat Med. 2006;12(8):875–8.
  43. Larochelle O, P茅rigny M, Lagac茅 R, Dion N, Gigu猫re C. Best cases from the AFIP: epithelioid hemangioendothelioma of bone. Radiographics. 2006;26(1):265–70.
  44. Gill R, O’Donnell RJ, Horvai A. Utility of immunohistochemistry for endothelial markers in distinguishing epithelioid hemangioendothelioma from carcinoma metastatic to bone. Arch Pathol Lab Med. 2009;133(6):967–72.
  45. Lewis CJ, Gerrand C, Barnes DE, Murray S, Milner RH, Ragbir M. Experience of angiosarcoma in the North of England Bone and Soft Tissue Tumour Service. J Plast Reconstr Aesthet Surg. 2011;64(7):884–91.
  46. Deshpande V, Rosenberg AE, O’Connell JX, Nielsen GP. Epithelioid angiosarcoma of the bone: a series of 10 cases. Am J Surg Pathol. 2003;27(6):709–16.
  47. Hart J, Mandavilli S. Epithelioid angiosarcoma: a brief diagnostic review and differential diagnosis. Arch Pathol Lab Med. 2011;135(2):268–72.
  48. Kleer CG, Unni KK, McLeod RA. Epithelioid hemangioendothelioma of bone. Am J Surg Pathol. 1996;20(11):1301–11.
  49. Cao Y, Zou SM, Zhang KT, Lu N, Liu Y, Feng L, Wen P, Han NJ, Lin DM. Genetic alterations in pulmonary epithelioid hemangioendothelioma and epithelioid angiosarcoma. Histol Histopathol. 2011;26(4):491–6.
• 作者单位：1. Ortopedia Generale, Orthopaedic Service, Istituto Ortopedico Rizzoli, Rizzoli-Sicilia, Bagheria, Italy2. Pathology Service, Istituto Ortopedico Rizzoli, Bologna, Italy3. Laboratory for Cancer Research, Istituto Ortopedico Rizzoli, Bologna, Italy4. Dipartimento Rizzoli-Sicilia, Struttura Complessa Ortopedia Generale, Strada Statale 113Km 246, 90011 Bagheria, PA, Italy
• ISSN：1432-2161

文摘

The classification of vascular bone tumors remains challenging, with considerable morphological overlap spanning across benign to malignant categories. The vast majority of both benign and malignant vascular tumors are readily diagnosed based on their characteristic histological features, such as the formation of vascular spaces and the expression of endothelial markers. However, some vascular tumors have atypical histological features, such as a solid growth pattern, epithelioid change, or spindle cell morphology, which complicates their diagnosis. Pathologically, these tumors are remarkably similar, which makes differentiating them from each other very difficult. For this rare subset of vascular bone tumors, there remains considerable controversy with regard to the terminology and the classification that should be used. Moreover, one of the most confusing issues related to vascular bone tumors is the myriad of names that are used to describe them. Because the clinical behavior and, consequently, treatment and prognosis of vascular bone tumors can vary significantly, it is important to effectively and accurately distinguish them from each other. Upon review of the nomenclature and the characteristic clinicopathological, radiographic and genetic features of vascular bone tumors, we propose a classification scheme that includes hemangioma, hemangioendothelioma, angiosarcoma, and their epithelioid variants.