Vascular Tumors in Children and Adults. Thuy Phung, MD, PhD Houston Methodist Hospital Texas Children s Hospital Baylor College of Medicine

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1 Vascular Tumors in Children and Adults Thuy Phung, MD, PhD Houston Methodist Hospital Texas Children s Hospital Baylor College of Medicine

2 What are these lesions? (Marcelo Hochman, MD)

3 What are these lesions?

4 Outline Clinical presentation, histopathology and molecular genetics Congenital hemangioma (NICH/RICH) Kaposiform hemangioendothelioma Epithelioid angiosarcoma

5 ISSVA classification for vascular anomalies (Approved at the 20th ISSVA Workshop, Melbourne, April 2014) Vascular anomalies Vascular tumors Vascular malformations Benign Locally aggressive or borderline Simple Combined of major named vessels associated with other anomalies Malignant Capillary malformations CVM, CLM LVM, See details See list Lymphatic malformations CLVM CAVM* Venous malformations CLAVM* Arteriovenous malformations* Arteriovenous fistula* others

6 ISSVA Classification of Vascular Tumors Benign vascular tumors Infantile hemangioma / Hemangioma of infancy see details Congenital hemangioma Rapidly involuting (RICH) * Non-involuting (NICH) Partially involuting (PICH) Tufted angioma * Spindle-cell hemangioma Epithelioid hemangioma Pyogenic granuloma (aka lobular capillary hemangioma) Others Locally aggressive or borderline vascular tumors Kaposiform hemangioendothelioma * Retiform hemangioendothelioma Papillary intralymphatic angioendothelioma (PILA), Dabska tumor Composite hemangioendothelioma Kaposi sarcoma Others Malignant vascular tumors Angiosarcoma Epithelioid hemangioendothelioma Others

7 Congenital Hemangiomas

8 Congenital Hemangiomas (distinct from infantile hemangiomas) Fully formed at birth More common in males Can occur at any body site, commonly on head and neck Rapidly involuting congenital hemangiomas (RICH) -can be gone by months of age Non-involuting congenital hemangiomas (NICH) GLUT 1 negative

9 Rapidly-involuting congenital hemangioma (RICH) 23 weeks in utero Neck mass Soon after birth 8 months old 17 months old (Michele Ramien, MD, University of Ottawa)

10 Rapidly involuting congenital hemangioma (RICH) Discreet hypercellular lobules with slit-like channels Fibrous tissue separating lobules Lobules with enlarged central draining vessels

11 Rapidly involuting congenital hemangioma (RICH) Slit-like channels Fibrous tissue separating lobules Lobules with enlarged central draining vessels

12 RICH Hobnail nuclei Small vessels surrounding enlarged central draining vessels

13 RICH Small vessels surrounding enlarged central draining vessels

14 Non-involuting congenital hemangioma (NICH) Lesion is fully formed at birth Does NOT involute as the child grows In Utero ultrasound Newborn

15 Non-involuting congenital hemangioma (NICH) Blue halo Firm rubbery swelling with telangiectasia and a blue halo, warm to touch, non-compressible, non-tender mass

16 NICH: Ultrasound Imaging Color Doppler shows pulsatile arteries and veins within a well-circumscribed, non-compressible soft tissue mass

17 Fibrous tissue separating large lobules NICH Large lobules with enlarged stellate central draining vessels and curvelinear channels

18 Non-involuting congenital hemangioma (NICH) Lobules of cells with dilated central vessels

19 NICH Lobules of cells with dilated central vessels

20 NICH Hobnail nuclei Lobules of small vessels and large central draining vessels

21 NICH

22 Thrombi NICH

23 Congenital hemangioma GLUT-1 negative Infantile hemangioma GLUT-1 positive

24 Lesion size Congenital hemangioma vs. Infantile hemangioma Growth curves NICH RICH Infantile hemangioma Prenatal Birth Post-natal (Wassef et al., Pediatrics Jul;136(1):e203-14)

25 Kaposiform hemangioendothelioma (KHE)

26 Kaposiform hemangioendothelioma Solitary firm tumor in the skin or soft tissue with red-purple ecchymosis Presents during infancy (58%) or early childhood (32%); rare in adults Present in head and neck, extremities and trunk. Extracutaneous sites are bone, mediastinum and retroperitoneum A locally aggressive, borderlinemalignant tumor; metastasis is very rare Major clinical complication is Kasabach-Merritt phenomenon a severe consumptive coagulopathy

27 Kaposiform hemangioendothelioma

28 Kaposiform hemangioendothelioma

29 Kaposiform hemangioendothelioma

30 Kaposiform hemangioendothelioma CD31

31 Kaposiform hemangioendothelioma CD31

32 Kaposiform hemangioendothelioma D2-40

33 Kaposiform hemangioendothelioma D2-40

34 Angiosarcoma

35 Often occurs in the head and neck in elderly men Angiosarcoma Lymphedema-associated angiosarcoma (Stewart-Treves syndrome) Post-radiation angiosarcoma Exposure to vinyl chloride Poor prognosis, median survival is 2-3 years; 5-year survival rate is 30% Epithelioid angiosarcoma has worse prognosis

36 Angiosarcoma

37 Angiosarcoma

38 Angiosarcoma

39 Angiosarcoma

40 CD31+, CD45-, CK- Angiosarcoma

41 Hemangiosarcoma in Dogs Dogs are a unique species in which spontaneous hemangiosarcoma commonly occurs. Accounts for ~7% of malignant tumors in dogs Common in certain dog strains (e.g., German shepherds) Occurs in the spleen and liver Presents as sudden splenic rupture (Stuart C. Helfand et al, Neoplasia, 2004)

42 Genetic Mutations in Vascular Tumors Infantile hemangioma VEGFR-2/TEM8 Angiosarcoma VEGFR-2 G-protein Coupled Receptors PTEN β γ α Congenital hemangioma GNAQ, GNA11 KHE and tufted angioma GNA14 PI3K Ras Raf Angiosarcoma PTEN, K-Ras, PTPRB, PLCG1, p53 NUP160-SLC43A3 gene fusion

43 Some Key Take Home Points Vascular anomalies (i.e., vascular malformations and tumors) in children and adults represent a number of unique entities with diverse etiologies, many with distinctive clinical, imaging and histologic features. Some lesions continue to defy classification and are best viewed as complex, dynamic biological processes yet to be defined. For these, it is best not to pigeon hole the lesion as a hemangioma but to describe it as accurately as possible and correlate with clinical, imaging and histologic features of the lesion.

44 Thank You!