Case 1. Prof Jerzy Klijanienko MD PhD MIAC. Institut Curie Paris France
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1 Case 1 Prof Jerzy Klijanienko MD PhD MIAC Institut Curie Paris France
2 Male, 1y 8mo 97 mm mass AFP: negative (220 ng/ml) 2 - -
3 3 - -
4 4 - -
5 5 - -
6 Your diagnosis? A. Hepatocarcinoma B. Hepatoblastoma C. Mesenchymal blastoma 0% 0% 0% Hepatocarcinoma Hepatoblastoma Mesenchymal blastoma
7 Male, 1y 8mo 97 mm mass AFP (ng/ml): 220 FNA: HBL CNB:
8 9 - -
9 Male, 1y 8mo 97 mm mass AFP (ng/ml): 220 FNA: HBL CNB: Fœtal HBL Follow up (mo): 273 ADF
10 Hepatic tumors in children (AFIP)
11 Hepatoblastoma definition (WHO) HBL a malignant embryonal tumor with divergent patterns of differentiation, ranging from cells resembling fetal epithelial hepatocytes, to embryonal cells, and differentiated tissues including osteoid-like material, fibrous connective tissue and striated muscle fibers 4% percent of HBL are present at birth, 68% in the first two years of life and 90% by five years of age. Only 3% are seen in patients over 15 years of age. HBL occur as a single mass in 80% of cases, involving the right lobe in 57%, the left lobe in 15% and both lobes in 27% of patients Imaging is characteristic as well elevated seric AFP level
12 Associated malformative syndromas (5%) (selected) Absence of left adrenal gland Acardia syndrome Alcohol embryopathy Beckwith-Wiedemann syndrome Budd-Chiari syndrome Cleft palate, macroglossia, dysplasia of ear lobes Cystothioninuria Down syndrome, malrotation of colon, Meckel diverticulum, pectum excavatum, intrathoracic kidney, single coronary artery
13 Molecular genetics in hepatoblastoma Trisomy for all or parts of chromosome 2 Trisomy for chromosome 20 Loss of heterozygosity (LOH) for the telomeric portion of 11p (11p15.5) TP53 overexpression has been described in several cases Increased copy numbers of c-met and K-sam proto-oncogenes and Cyclin D1 genes
14 Histological classification of hepatoblastoma
15 Pure epithelial variants (60-70%) - Fœtal - Fœtal with mitotic figures - Embryonal - Pleomorphic - Small poorly differentiated cells - Cholangioblastic - Macrotrabecular Mixed epithelial and mesenchymal variants - With teratoid component (melanic, neuroendocr., endoblastic) - Without teratoid component
16 Pure epithelial variants - Fœtal - Fœtal with mitotic figures - Embryonal - Pleomorphic - Small poorly differentiated cells - Cholangioblastic - Macrotrabecular
17 Pure epithelial variants - Fœtal - Fœtal with mitotic figures - Embryonal - Pleomorphic - Small poorly differentiated cells - Cholangioblastic - Macrotrabecular
18 Pure epithelial variants - Fœtal - Fœtal with mitotic figures - Embryonal - Pleomorphic - Small poorly differentiated cells - Cholangioblastic - Macrotrabecular
19 Pure epithelial variants - Fœtal - Fœtal with mitotic figures - Embryonal - Pleomorphic - Small poorly differentiated cells - Cholangioblastic - Macrotrabecular
20 Pure epithelial variants - Fœtal - Fœtal with mitotic figures - Embryonal - Pleomorphic - Small poorly differentiated cells - Cholangioblastic - Macrotrabecular
21 Pure epithelial variants - Fœtal - Fœtal with mitotic figures - Embryonal - Pleomorphic - Small poorly differentiated cells - Cholangioblastic - Macrotrabecular Thanks to:
22 Pure epithelial variants - Fœtal - Fœtal with mitotic figures - Embryonal - Pleomorphic - Small poorly differentiated cells - Cholangioblastic - Macrotrabecular
23 Mixed epithelial and mesenchymal variants - With teratoid component - Without teratoid component
24 Institut Curie experience (24 yrs) 21 cases in 20 pts diagnosed by FNA (1 recurrence) 4 Females and 16 males Age 1 month to 10y 6mo (mean 3 yrs) AFP positive in 18/20 cases (>1000 ng/ml) Δ FNA in all cases + Δ histology on CNB in 18 and cell blocs in 2 cases Surgery in all cases but outside Institut Curie reports in charts Definitive Δ on surgical specimen in 18 cases and 2 on CNB (sterilization) 12 epithelial / embryonal pure and 8 mixed 16 ADF, 3 DOD and 1 LTFU (12 mo) Among 3 pts DOD = 10y 6mo in 1, mixt in 1, neuroendocrine component in
25 Our cases
26 Cyto-histological correlations
27 Literature cases
28 29 - -
29 cases!!!
30 31 - -
31 32 - -
32 Our cases, metastatic = poor prognosis
33 Differential diagnosis of hepatoblastoma
34 35 - -
35 36 - -
36 Differential diagnosis example ( ) Female 4 mo Large (15x12 cm) left hepatic mass with cysts APF : 1500 (border-line, but may be normal for age) Mesenchymal hamartoma on radiology FNA possibility of hepatoblastoma CNB mesenchymal hamartoma Surgery mesenchymal hamartoma
37 38 - -
38 39 - -
39 40 - -
40 41 - -
41 Thank you
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