Classification des tumeurs et malformations vasculaires. Apport de la classification ISSVA 2014/2018

Annales de Pathologie - Tập 41 - Trang 58-70 - 2021
Michel Wassef1,2, Michel Borsik2,3, Pierre Cerceau2,4, Benoit Faucon2,5, Claude Laurian2,6, Nicolas Le Clerc2,7, Françoise Lemarchand-Venencie2, Claudine Massoni2,8, Didier Salvan2,9, Annouk Bisdorff-Bresson2
1Service d’anatomie et cytologie pathologiques, hôpital Lariboisière, APHP ; UFR de médecine Paris nord, université de Paris, 2, rue Ambroise-Paré, 75475 Paris cedex, France
2Consultation des angiomes, service de neuroradiologie, hôpital Lariboisière, APHP, 2, rue Ambroise-Paré 75475 Paris cedex, France
3Maison médicale, 9, rue Jean-Jacques-Bernard, 60200 Compiègne, France
4Service de chirurgie vasculaire et thoracique, hôpital Bichat, APHP, 46, rue Henri-Huchard, 75018 Paris, France
5Service d’ORL, Centre hospitalier de Pontoise, 6, avenue de l’Île-de-France, 95300 Pontoise, France
6Service de chirurgie vasculaire, hôpital Saint-Joseph, 185, rue Raymond-Losserand, 75014 Paris, France
7Service d’ORL, hôpital Lariboisière, APHP, 2, rue Ambroise-Paré 75475 Paris cedex, France
8Cabinet médical, 7, rue Chalgrin, 75116 Paris, France
9Service d’ORL, centre hospitalier Sud Francilien, 40, avenue Serge-Dassault, 91100 Corbeil Essonnes, France

Tài liệu tham khảo

Leaute-Labreze, 2008, Propranolol for severe hemangiomas of infancy, N Engl J Med, 358, 2649, 10.1056/NEJMc0708819 Mulliken, 1982, Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics, Plast Reconstr Surg, 69, 412, 10.1097/00006534-198203000-00002 Wassef, 2015, Vascular anomalies classification: recommendations from the International society for the study of vascular anomalies, Pediatrics, 136, e203, 10.1542/peds.2014-3673 International society for the study of vascular anomalies, 2018 Mulliken, 2013 Kutzner, 2020, Vascular tumours and vascular malformations WHO Classification of Tumours Editorial Board, 2020 Elder, 2018, 478 Kilcline, 2008, Infantile hemangiomas: how common are they? A systematic review of the medical literature, Pediatr Dermatol, 25, 168, 10.1111/j.1525-1470.2008.00626.x Berenguer, 2003, Rapidly involuting congenital hemangioma: clinical and histopathologic features, Pediatr Dev Pathol, 6, 495, 10.1007/s10024-003-2134-6 Enjolras, 2001, Non-involuting congenital hemangioma: a rare cutaneous vascular anomaly, Plast Reconstr Surg, 107, 1647, 10.1097/00006534-200106000-00002 El Zein, 2020, The histopathology of congenital hemangioma and its clinical correlations: a long-term follow-up study of 55 cases, Histopathology, 10.1111/his.14114 Le Huu, 2010, Expression of prox1, lymphatic endothelial nuclear transcription factor, in kaposiform hemangioendothelioma and tufted angioma, Am J Surg Pathol, 34, 1563, 10.1097/PAS.0b013e3181f6076f Wassef, 2011, Histoséminaire de la sfp : tumeurs et pseudotumeurs vasculaires. Cas no2. Hémangioendothéliome kaposiforme, Ann Pathol, 31, 260, 10.1016/j.annpat.2011.04.011 Enjolras, 1997, Infants with Kasabach–Merritt syndrome do not have “true” hemangiomas, J Pediatr, 130, 631, 10.1016/S0022-3476(97)70249-X Zukerberg, 1993, Kaposiform hemangioendothelioma of infancy and childhood – an aggressive neoplasm associated with Kasabach–Merritt syndrome and lymphangiomatosis, Am J Surg Pathol, 17, 321, 10.1097/00000478-199304000-00001 Wassef, 2011, Histoséminaire de la sfp : tumeurs et pseudotumeurs vasculaires. Cas no4. Hémangiome à cellules fusiformes, Ann Pathol, 31, 271, 10.1016/j.annpat.2011.04.012 Pansuriya, 2011, Somatic mosaic idh1 and idh2 mutations are associated with enchondroma and spindle cell hemangioma in ollier disease and maffucci syndrome, Nat Genet, 43, 1256, 10.1038/ng.1004 Ten Broek, 2017, Mutational analysis using sanger and next generation sequencing in sporadic spindle cell hemangiomas: a study of 19 cases, Genes Chromosomes Cancer, 56, 855, 10.1002/gcc.22501 Huang, 2015, Frequent fos gene rearrangements in epithelioid hemangioma: a molecular study of 58 cases with morphologic reappraisal, Am J Surg Pathol, 39, 1313, 10.1097/PAS.0000000000000469 Godfraind, 2013, Pyogenic granuloma, an impaired wound healing process, linked to vascular growth driven by flt4 and the nitric oxide pathway, Mod Pathol, 26, 247, 10.1038/modpathol.2012.148 Baglin, 2011, Tumeurs et pseudotumeurs vasculaires. Cas no3. Granulome pyogenique ou hemangiome capillaire lobulaire, Ann Pathol, 31, 266, 10.1016/j.annpat.2011.05.014 Gonzalez-Guerra, 2008, Glomeruloid haemangioma is not always associated with poems syndrome, Clin Exp Dermatol, 9, 9 Velez, 2005, Solitary glomeruloid haemangioma without poems syndrome, J Cutan Pathol, 32, 449, 10.1111/j.0303-6987.2005.00353.x Suurmeijer, 2007, Papillary haemangioma. A distinctive cutaneous haemangioma of the head and neck area containing eosinophilic hyaline globules, Histopathology, 51, 638, 10.1111/j.1365-2559.2007.02847.x Shirley, 2013, Sturge–Weber syndrome and port-wine stains caused by somatic mutation in gnaq, N Engl J Med, 368, 1971, 10.1056/NEJMoa1213507 Couto, 2017, A somatic gna11 mutation is associated with extremity capillary malformation and overgrowth, Angiogenesis, 20, 303, 10.1007/s10456-016-9538-1 Eerola, 2003, Capillary malformation–arteriovenous malformation, a new clinical and genetic disorder caused by rasa1 mutations, Am J Hum Genet, 73, 1240, 10.1086/379793 Amyere, 2017, Germline loss-of-function mutations in ephb4 cause a second form of capillary malformation-arteriovenous malformation (cm-avm2) deregulating ras-mapk signaling, Circulation, 136, 1037, 10.1161/CIRCULATIONAHA.116.026886 Kahn, 2002, Monoclonal antibody d2-40, a new marker of lymphatic endothelium, reacts with kaposi's sarcoma and a subset of angiosarcomas, Mod Pathol, 15, 434, 10.1038/modpathol.3880543 Miettinen, 2012, Prox1 transcription factor as a marker for vascular tumours – evaluation of 314 vascular endothelial and 1086 non-vascular tumours, Am J Surg Pathol, 36, 351, 10.1097/PAS.0b013e318236c312 Xu, 2004, Expression of a lymphatic endothelial cell marker in benign and malignant vascular tumours, Hum Pathol, 35, 857, 10.1016/j.humpath.2004.02.009 Wassef, 1999, Les malformations vasculaires superficielles, classification et histopathologie, Ann Pathol, 19, 253 Lala, 2013, Gorham–Stout disease and generalised lymphatic anomaly – clinical, radiologic, and histologic differentiation, Skeletal Radiol, 42, 917, 10.1007/s00256-012-1565-4 Trenor, 2014, Complex lymphatic anomalies, Semin Pediatr Surg, 23, 186, 10.1053/j.sempedsurg.2014.07.006 Wassef, 2011, Histoséminaire de la sfp : tumeurs et pseudotumeurs vasculaires. Cas no6. Malformation veineuse commune, Ann Pathol, 31, 281, 10.1016/j.annpat.2011.06.004 Vikkula, 1996, Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase tie2, Cell, 87, 1181, 10.1016/S0092-8674(00)81814-0 Soblet, 2013, Variable somatic tie2 mutations in half of sporadic venous malformations, Mol Syndromol, 4, 179, 10.1159/000348327 Soblet, 2017, Blue rubber bleb nevus (brbn) syndrome is caused by somatic tek (tie2) mutations, J Invest Dermatol, 137, 207, 10.1016/j.jid.2016.07.034 Limaye, 2015, Somatic activating pik3ca mutations cause venous malformation, Am J Hum Genet, 97, 914, 10.1016/j.ajhg.2015.11.011 Brouillard, 2002, Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”), Am J Hum Genet, 70, 866, 10.1086/339492 Mosquera, 2013, Novel mir143-notch fusions in benign and malignant glomus tumours, Genes Chromosomes Cancer, 52, 1075, 10.1002/gcc.22102 Karamzadeh Dashti, 2017, Braf v600e mutations occur in a subset of glomus tumours, and are associated with malignant histologic characteristics, Am J Surg Pathol, 41, 1532, 10.1097/PAS.0000000000000913 Wassef, 2011, Histoséminaire de la sfp : tumeurs et pseudotumeurs vasculaires. Cas no8. Malformation artérioveineuse de la lèvre, Ann Pathol, 31, 292, 10.1016/j.annpat.2011.06.001 Yilmaz, 2014, Intramuscular capillary-type hemangioma: radiologic–pathologic correlation, Pediatr Radiol, 44, 558, 10.1007/s00247-014-2876-5 Goss, 2019, Intramuscular fast-flow vascular anomaly contains somatic map2k1 and kras mutations, Angiogenesis, 22, 547, 10.1007/s10456-019-09678-w North, 2004, Multifocal lymphangioendotheliomatosis with thrombocytopenia: a newly recognised clinicopathological entity, Arch Dermatol, 140, 599, 10.1001/archderm.140.5.599 Prasad, 2005, Cutaneovisceral angiomatosis with thrombocytopenia, Pediatr Dev Pathol, 8, 407, 10.1007/s10024-005-1124-2 Frieden, 1996, Phace syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities, Arch Dermatol, 132, 307, 10.1001/archderm.1996.03890270083012 Allen, 1972, Hemangioma of skeletal muscle. An analysis of 89 cases, Cancer, 29, 8, 10.1002/1097-0142(197201)29:1<8::AID-CNCR2820290103>3.0.CO;2-A Rao, 1992, Angiomatosis of soft tissue – an analysis of the histologic features and clinical outcome in 51 cases, Am J Surg Pathol, 16, 764, 10.1097/00000478-199208000-00004 Wassef, 2011, Histoséminaire de la sfp : tumeurs et pseudotumeurs vasculaires. Cas no7. Angiomatose des tissus mous (type Rao et Weiss), Ann Pathol, 31, 287, 10.1016/j.annpat.2011.06.002 Kurek, 2012, Pten hamartoma of soft tissue: a distinctive lesion in pten syndromes, Am J Surg Pathol, 36, 671, 10.1097/PAS.0b013e31824dd86c Alomari, 2014, Fibro-adipose vascular anomaly: clinical–radiologic–pathologic features of a newly delineated disorder of the extremity, J Pediatr Orthop, 34, 109, 10.1097/BPO.0b013e3182a1f0b8 Hori, 2020, Fibro-adipose vascular anomaly (fava): three case reports with an emphasis on the mammalian target of rapamycin (mtor) pathway, Diagn Pathol, 15, 98, 10.1186/s13000-020-01004-z Boccara, 2020, Soft tissue angiomatosis: another pik3ca-related disorder, Histopathology, 76, 540, 10.1111/his.14021