Incidence of liver abnormalities in Fanconi anemia patients

Masserot-Lureau, Caroline; Adoui, Nadir; Degos, Françoise; Bazelaire, Cédric de; Soulier, Jean; Chevret, Sylvie; Socié, Gérard; Leblanc, Thierry

doi:10.1002/ajh.23153

Cited by 29 publications

(24 citation statements)

References 23 publications

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“…The median age at diagnosis of HCC in FA is 13.4 years [64]. Several factors may play a role in the development of HCA in FA: (i) genetic disorders and chromosomal defects allow mutagenesis and liver cell proliferation, (ii) chronic iron overload, which is frequently encountered even in the absence of blood transfusion or hemochromatosis, probably has a carcinogenetic effect [66, 67], and (iii) androgen therapy presents hepatic oncogenic properties [63, 64]. Screening for HCC in this context is difficult because HCC may occur despite typical radiological patterns of HCA.…”

Section: Hepatocellular Adenomamentioning

confidence: 99%

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Benign Hepatocellular Tumors in Children: Focal Nodular Hyperplasia and Hepatocellular Adenoma

Franchi‐Abella

Branchereau

2013

International Journal of Hepatology

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Benign liver tumors are very rare in children. Most focal nodular hyperplasia (FNH) remain sporadic, but predisposing factors exist, as follows: long-term cancer survivor (with an increasing incidence), portal deprivation in congenital or surgical portosystemic shunt. The aspect is atypical on imaging in two-thirds of cases. Biopsy of the tumor and the nontumoral liver is then required. Surgical resection will be discussed in the case of large tumors with or without symptoms. In the case of associated vascular disorder with portal deprivation, restoration of the portal flow will be discussed in the hope of seeing the involution of FNH. HepatoCellular Adenoma (HCA) is frequently associated with predisposing factors such as GSD type I and III, Fanconi anemia especially if androgen therapy is administered, CPSS, and SPSS. Adenomatosis has been reported in germline mutation of HNF1-α. Management will depend on the presence of a predisposing factor and may include metabolic control, androgen therapy withdrawn, or closure of the shunt when appropriate. Surgery is usually performed on large lesions. In the case of adenomatosis or multiple lesions, surgery will be adapted. Close followup is required in all cases.

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Section: Hepatocellular Adenomamentioning

confidence: 99%

“…Screening for HCC in this context is difficult because HCC may occur despite typical radiological patterns of HCA. The α -foetoprotein test is not reliable as this biomarker has been found to be increased in about 85% of FA patients [67]. Close followup by imaging is mandatory for early diagnosis of HCA.…”

Section: Hepatocellular Adenomamentioning

confidence: 99%

Benign Hepatocellular Tumors in Children: Focal Nodular Hyperplasia and Hepatocellular Adenoma

Franchi‐Abella

Branchereau

2013

International Journal of Hepatology

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“…The Fanconi anemia is an autosomal recessive disease, causing secondary aplastic anemia and congenital abnormalities, associated with an increased risk of tumors [56, 71, 72]. In patients with the Fanconi anemia, androgen therapy and iron overload may contribute to the development of HCA and HCC; the latter may occur as a transformation of HCA.…”

Section: Hca Occurring In the Context Of Specific Etiologymentioning

confidence: 99%

Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context

Bioulac‐Sage

Sempoux

Possenti

et al. 2013

International Journal of Hepatology

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In Europe and North America, hepatocellular adenomas (HCA) occur, classically, in middle-aged woman taking oral contraceptives. Twenty percent of women, however, are not exposed to oral contraceptives; HCA can more rarely occur in men, children, and women over 65 years. HCA have been observed in many pathological conditions such as glycogenosis, familial adenomatous polyposis, MODY3, after male hormone administration, and in vascular diseases. Obesity is frequent particularly in inflammatory HCA. The background liver is often normal, but steatosis is a frequent finding particularly in inflammatory HCA. The diagnosis of HCA is more difficult when the background liver is fibrotic, notably in vascular diseases. HCA can be solitary, or multiple or in great number (adenomatosis). When nodules are multiple, they are usually of the same subtype. HNF1α-inactivated HCA occur almost exclusively in woman. The most important point of the classification is the identification of β-catenin mutated HCA, a strong argument to identify patients at risk of malignant transformation. Some HCA already present criteria indicating malignant transformation. When the whole nodule is a hepatocellular carcinoma, it is extremely difficult to prove that it is the consequence of a former HCA. It is occasionally difficult to identify HCA remodeled by necrosis or hemorrhage.

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“…Importantly, in these patients, the median age for cancer was 16, compared with 68 in the general population [ 32 ]. Patients with FA, a BRIP1 -related disease, are prone to liver tumors [ 33 ]. In a systematic review on FA patients the calculated prevalence rate of liver tumors was 3% [ 32 ], thus 10-fold higher when compared with patients with chronic HBV infection (0.28%) [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

BRIP1coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease

et al. 2016

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The molecular mechanisms of hepatocellular carcinoma (HCC) carcinogenesis are still not fully understood. DNA repair defects may influence HCC risk. The aim of the study was to look for potential genetic variants of DNA repair genes associated with HCC risk among patients with alcohol- or viral-induced liver disease. We performed four case-control studies on 2,006 European- (Derivation#1 and #2 studies) and African-ancestry (Validation#1 and #2 studies) patients originating from several cohorts in order to assess the association between genetic variants on DNA repair genes and HCC risk using a custom array encompassing 94 genes. In the Derivation#1 study, the BRIP1 locus reached array-wide significance (Chi-squared SV-Perm, P=5.00×10−4) among the 253 haplotype blocks tested for their association with HCC risk, in patients with viral cirrhosis but not among those with alcoholic cirrhosis. The BRIP1 haplotype block included three exonic variants (rs4986763, rs4986764, rs4986765). The BRIP1 ‘AAA’ haplotype was significantly associated with an increased HCC risk [odds ratio (OR), 2.01 (1.19–3.39); false discovery rate (FDR)-P=1.31×10−2]. In the Derivation#2 study, results were confirmed for the BRIP1 ‘GGG’ haplotype [OR, 0.53 (0.36–0.79); FDR-P=3.90×10−3]. In both Validation#1 and #2 studies, BRIP1 ‘AAA’ haplotype was significantly associated with an increased risk of HCC [OR, 1.71 (1.09–2.68); FDR-P=7.30×10−2; and OR, 6.45 (4.17–9.99); FDR-P=2.33×10−19, respectively]. Association between the BRIP1 locus and HCC risk suggests that impaired DNA mismatch repair might play a role in liver carcinogenesis, among patients with HCV- or HBV-related liver disease.

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Incidence of liver abnormalities in Fanconi anemia patients

Cited by 29 publications

References 23 publications

Benign Hepatocellular Tumors in Children: Focal Nodular Hyperplasia and Hepatocellular Adenoma

Benign Hepatocellular Tumors in Children: Focal Nodular Hyperplasia and Hepatocellular Adenoma

Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context

BRIP1coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease

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