21/07/2017 1 21/07/2017 CD31 ERG 2 21/07/2017 SPINDLE CELL - PDF document

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21/07/2017 CD31 ERG 2

21/07/2017 SPINDLE CELL SPINDLE CELL HAEMANGIOMA HAEMANGIOMA CLINICAL FEATURES � Second and third decades � M = F � Mainly distal extremities (hands) � Red / blue nodules (more than 50% with multiple lesions) � Slowly progressive course � Association with Mafucci, Klippel-Trenaunay (about 5%), lymphoedema, varicose veins � Initially thought to be a low-grade malignant tumour, re- classified as benign and a form of vascular malformation and recently proven to be a benign neoplasm (R132C IDH1 mutation demonstrated both in familial and sporadic cases) 3

21/07/2017 SPINDLE CELL HAEMANGIOMA Spindle cell haemangioma Spindle cell haemangioma Associations Klippel-Trenaunay syndrome Maffucci � s syndrome � 5% Congenital lymphoedema SPINDLE CELL SPINDLE CELL HAEMANGIOMA HAEMANGIOMA HISTOLOGICAL FEATURES � Poorly circumscribed � Cavernous thin-walled vascular spaces � Solid spindle cell areas � Focal epithelioid cells with cytoplasmic vacuoles � Areas reminiscent of an arteriovenous malformation � Thrombosis 4

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21/07/2017 CD34 6

21/07/2017 ILLUSTRATIVE CASE ILLUSTRATIVE CASE Male, 50. Multiple vascular papules on lower Male, 50. Multiple vascular papules on lower lip lip 7

21/07/2017 CD31 PSEUDOMYOGENIC PSEUDOMYOGENIC HAEMANGIOENDOTHELIOMA HAEMANGIOENDOTHELIOMA ERG 8

21/07/2017 Pseudomyogenic Pseudomyogenic � First described 1992 by Mirra et al Hemangioendothelioma: A distinctive, Hemangioendothelioma: A distinctive, � Epithelioid sarcoma, Fibroma-like, often multicentric tumor with indolent often multicentric tumor with indolent Fibrohistiocytic/Myoid Variant � behavior behavior � 2003 by Billings, Folpes and Weiss Hornick JL, Fletcher CD, Am J Surg Pathol � Epithelioid Sarcoma � Like 2011;35:190-201 Hemangioendothelioma � � 2011 Hornick and Fletcher � Pseudomyogenic Hemangioendothelioma � PSEUDOMYOGENIC PSEUDOMYOGENIC PSEUDOMYOGENIC PSEUDOMYOGENIC HAEMANGIOENDOTHELIOMA HAEMANGIOENDOTHELIOMA HAEMANGIOENDOTHELIOMA HAEMANGIOENDOTHELIOMA � Loosely fascicular and sheet like, rarely � Young male (31y mean age) focally storiform � Limbs (78%), Trunk (16%), Head and � Focally myxoid Neck (4%) � Plump spindle cells with vesicular nuclei, prominent nucleoli and abundant bright � Multifocality eosinophilic cytoplasm with a � Multiple tissue levels rhabdomyoblast like appearance � Can have focal epithelioid areas � Occasional infiltration of bone � Neutrophilic infiltrate 8 year-old male. Multiple painless nodules on the thigh 9

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21/07/2017 PSEUDOMYOGENIC PSEUDOMYOGENIC HAEMANGIOENDOTHELIOMA HAEMANGIOENDOTHELIOMA 100% (+) for : AE1/AE3 and Fli1 100% (-) for : CD34, S100, desmin 100% Retention of INI1 Positive for new endothelial marker ERG Variable positivity for CD31 Focal positivity for Cam5.2, MNF116, SMA, EMA GENETICS GENETICS t(7;19)(q22;q13) SERPINE1-FOSB By FISH or RT-PCR EPITHELIOID SARCOMA EPITHELIOID SARCOMA PROGNOSIS PROGNOSIS � TUMOUR OF INTERMEDIATE � 50% positive for CD34 MALIGNANCY � 90% loss of INI1 � Overall indolent behaviour � Negative for Fli1 � High Risk for Local recurrence (may lead to � Negative for CD31 amputation) � EMA positive � Lymph node metastasis � Low risk of distant mets 11

21/07/2017 CD34 PAN-KERATIN 12