raretumours.it

1. http://www.raretumours.it http://www.siapec.it

2. Tumori primitivi epatici rari • Carcinoma fibrolamellare • Carcinoma misto epato-colangiocellulare • Epatoblastoma • Carcinosarcoma • Carcinoide primitivo epatico • Cistoadenoma e il cistoadenocarcinoma • Sarcomi • Linfomi

3. Carcinoma fibrolamellare • 1-5% of HCC • Younger Caucasian patients (20-40 years); 30-40% < 20 years old • No gender preference • FC arises in an otherwise normal liver, in contrast to most patients with HCC. • A characteristic lamellar connective tissue is noted with macrohepatocytes. • Better prognosis than classic HCC; 5 years survival 60% Hepatology 2004; 39(3): 798–803 Cancer 2006;106:1331–8

4. Carcinoma misto epato-colangiocellulare • Less than 5% of primary hepatic carcinomas • These tumors are divided into: • those coincidentally containing HCC and cholangiocarcinoma in the same liver (type I) • “transitional tumors” from HCC to cholangiocarcinoma (type II) • “fibrolamellar tumors” which resemble FC but contain mucin-producing pseudoglands (type III) • Classification problems • The majority of these tumors arise in non-cirrhotic livers, with equal male/female distribution • Aggressive, 5 year overall survival 18%, 24% after resection Type I Type II Cancer 2002; 94(7):2040–6 J Med Invest 2008; 55:161-5 (review) Type III

5. Epatoblastoma • Almost exclusively in children between 6 months and 3 years, with a male predominance • 50% of liver mlignancies in children • Derived from undifferentiated embryonal tissue and thought to develop from pluripotent hepatic stem cells. • More commonly in families with familial adenomatous polyposis. • Lesions are often a solitary mass in the right lobe of the liver.

6. Epatoblastoma Tumour mass bulging from the surface with lobulations on cut section; fetal epithelial type: a characteristic light and dark appearance and abundant extramedullary haematopoiesis; embryonal epithelium (left) and fetal epithelium (right)

7. Epatoblastoma Hepatoblastoma, mixed type: fetal epithelial component and an embryonal component mixed with primitive mesenchyme, with osteoid, partially calcified osteoid, and cartilage.

8. Carcinosarcoma • Raro; meno di 20 casi riportati in letteratura • Numerosi sinonimi (carcinoma a cellule fusate, pseudosarcoma, carcinoma polipoide, carcinoma sarcomatoide, variante fusocellulare di carcinoma, ecc.) • definizione dell’WHO “un tumore che contiene sia elementi carcinomatosi (epato o colangioca,) sia elementi sarcomatosi, includendo i tumori misti. Hyeok Kwon J et al. Korean J Radiol 8(4), August 2007

9. Carcinoide primitivo epatico • 100 cases reported; less than 10 functional. • These tumors may arise from a pluripotent stem cell • Middle age (mean age = 48.2 years) and is more frequent in females (males/females = 20/33 cases) • 80% and 84% of the cases are positive for Grimelius silver stain and immunohistochemically positive for chromogranin A, respectively • 18% of recurrence rate and a 74% of a survival rate after 5 years Primary hepatic carcinoid tumor: a case report and review of the literature. Cases J. 2009;27;2(1):90Primary hepatic carcinoid tumor: case report and review of 53 cases. Med Sci Monit. 2001;7(4):746-50

10. Cistoadenoma e cistoadenocarcinoma • Nearly 200 cystadenomas and 100 cystadenocarcinomas have been reported. • Cystadenomas are usually found in middle-aged women. • The cause is unknown. • The typical appearance is of a lobulated, multiloculated mass. • Histologically, most contain an “ovarian-like” stroma. • CA 19-9 may be elevated. Hepatobiliary cystadenoma: a report of two cases. J Gastrointestin Liver Dis. 2008 Jun;17(2):203-6.

11. Cistoadenoma e cistoadenocarcinoma A multilocular cystic neoplasm lined with papillary adenocarcinoma. Hepatobiliary cystadenoma. An area with abundant mesenchymal stroma.

12. Sarcomi primitivi del fegato • Less than 1% of all hepatic malignancies. • Angiosarcoma, embryonal sarcoma, leiomyosarcoma, epithelioid hemangioendothelioma, fibrosarcoma, malignant fibrous histiocytoma, malignant solitary fibrous tumor, follicular dendritic cell sarcoma, • Rhabdomyosarcoma in infants and children • In immunocompromised individuals smooth muscle tumors of uncertain malignant potential have been described that are Epstein-Barr virus (EBV)-driven. Only 30 primary hepatic sarcoma between 1981 and 2004, compared with 331 patients with liver metastases from sarcoma Weitz J. et al Cancer 2007;109:1391–6.

13. Angiosarcoma • Rare but the third most common primary malignant tumor of the liver. • Predelection for elderly males. • The exposures to vinyl chloride, arsenic, thorotrast and irradiation are associated with an increased risk (etiologic cofactors). • Endothelial proliferation along the liver sinusoids, large necroses and cell atypias; solid and papillary. • Immunohistochemical staining for CD31, CD34, MIB-1 confirme the diagnosis • Poor prognosis. Large, hyperchromatic, atypical endothelial cells in hepatic sinusoids. World J urg Oncol 2008 30;6:104 (review) World J Gastroenterol 2006 7; 12(5):804-808

14. Angiosarcoma Atrophy of liver cell plates with sinusoids lined by malignant endothelial cells. Loss of hepatocytes, producing cavernous areas lined by malignant endothelial cells. Epithelioid-appearing tumour cells, mimicking carcinoma. In contrast to epithelioid haemangioendothelioma, there is no stroma.

15. Emangioendotelioma epitelioide • More than 200 cases reported, with a link to oral contraceptives. • Mean age 47 years, but occurs at any age • Female predominance (60%) • Non specific symptoms; in over 40% the tumor is found incidentally. • Histologically: dendritic and epithelioid cells with immunohistochemistry positivity for at least one endothelial cell marker (FVIII-RAg,CD34,CD31) • Indolent and slow growing; 5 year survival 43% Am Surg 2008; 74 (1):64-8 (review)Cancer 1999; 85(3): 562–82.

16. Leiomiosarcoma • Approximately 50 primary liver leiomyosarcomas are documented • A mean age of 53 • Equal male/female distribution. • No causative factors are known. • Primary hepatic myxoid leiomyosarcoma: a case report and review of the literature (Ultrastruct Pathol. 2008 Jan-Feb;32(1):25-8) – total 3 cases reported Am J Gastroenterol 1995; 90(4): 649–52 Korean J Gastroenterol 2008;51:194-198

17. Istiocitoma fibroso maligno • Extremely rare • 29 cases reported • Mean age 51yrs • 16 men, 13 women Mt Sinai J Med 2005; 72(1):50–2. Am J Surg Pathol 2008; 32: 1144-58 (review)

18. Liposarcoma Kuo LM et al.World J Gastroenterol 2006 February 21; 12(7):1157-1159

19. Sarcoma embrionale The tumour is gelatinous and fish-flesh in consistency with areas of necrosis. Undifferentiated tumour cells in a myxoid matrix. Some tumour cells contain eosinophilic globules. Indian J Pathol Microbiol 2007 Oct;50(4):811-3Gastroenterol Hepatol 2008; 31 (1):12-7 (review)

20. Altri sarcomi primitivi del fegato • Rhabdomyosarcomas of liver typically appear in childrenMt Sinai J Med 2005; 72(1):50–2. • Osteosarcoma: less than 10 case reports European Journal of Radiology ExtraVol 50, Issue 1, April 2004, Pages 31-36 • Primary hepatic schwannoma reported typically associated with von Recklinghausen’s disease • Alveolar soft-part sarcomaAm Surg 2008; 74(1):43-6

21. Angiomiolipoma • < 100 cases reported • Often misdiagnosed • Similar to renal angiomyolipoma • Mean age 50 years (9-79) • 80% women • HMB45, MelanA/Mart1, MITF (50%), S100, actin (1A4), desmin, c-kit/CD117 Arch Pathol Lab Med 2008; 132 (10):1679-82 (review) AJSP 2002; 26:493 (c-kit staining) Archives 2002; 126:49 (melanoma markers) AJSP 1999; 23:34 (rewiew)

22. Schwannoma benigno • 9 cases reported • Associated with neurofibromatosis in about 50% of cases. • Malignant transformation is rare • They grow very slowly and are well encapsulated in most cases. • Usually smaller than 5 cm at diagnosis • Larger schwannomas have a tendency to undergo secondary degeneration such as pseudocystic regression, hemorrhage and calcification. Lee WH et al J Korean Med Sci 2008; 23: 727-30

23. Linfoma primitivo del fegato • ~ 100 cases reported • 75% men • Median 55 years, but all ages • Diffuse sinusoidal infiltration • Lymphomas involving the liver include, with decreasing frequency: • diffuse large B-cell lymphoma • small lymphocytic lymphoma • Hodgkin's lymphoma • peripheral T-cell lymphoma • follicular lymphoma • extranodal marginal zone B-cell lymphoma. Archives 2001; 125:695 Pathologe. 2006 Jul;27(4):263-72.

24. Primary extramedullary plasmacytoma of the liver Demirhan B. et al J Clin Pathol 1997;50:74-76 (A) Infiltrate of uniform mature plasma cells with mild atypia, invading the liver parenchyma (haematoxylin and eosin); (B) VS38 antibody positive cells (immunoperoxidase); (C) plasma cells showing K light chain restriction; (D) no i. light chain immunoreactivity is evident.