Hepatocellular adenoma containing hepatocellular carcinoma in a male patient with familial adenomatous polyposis coli: Report of a case

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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“…Malignant transformation has also been described [15]. In our series we have observed 2 cases of b-IHCA associated with FAP (Figure 2).…”

Section: Hca Occurring In the Context Of Specific Etiologysupporting

confidence: 61%

“…HCA in patients with FAP have been reported previously [15, 47–50] with inactivation of HNF1 α [48] as well as biallelic inactivation of the APC gene [49, 50]. Malignant transformation has also been described [15].…”

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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“…According to our literature review, only seven cases, including our case, have been reported (Table 1) [5,[10][11][12][13][14] .…”

Section: Discussionmentioning

confidence: 99%

“…Thus, the tumor is not β-HCA. In our case, histopathological characteristics of the liver tumor were closely compatible for H-HCA ( Figure 3B and C [13] 20/F Left lobe Multiple 5.5 Observation (-) (+) ND ND Bläker et al [10] 27/F ND ND ND ND ND ND 1156 1516 Jeannot et al [12] 37/F Right lobe Solitary 7 Resection (+) (-) 1062 Mutation of HNF1a Okamura et al [5] 27/M Left lobe Solitary 8.5 Resection (-) (-) ND ND 1 Toiyama et al [14] 25 cytological abnormalities or inflammatory infiltrates [21][22][23] . However, no HNF1 gene mutation was identified (data not shown).…”

Section: Discussionmentioning

confidence: 99%

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Hepatocellular adenoma associated with familial adenomatous polyposis coli

Sakaguchi¹,

Kurachi²,

Mori³

et al. 2012

WJH

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Hepatocellular adenoma (HCA) is a benign liver tumor that most frequently occurs in young women using oral contraceptives. We report a rare case of HCA in a 29 years old female with familial adenomatous polyposis (FAP). The first proband was her sister, who underwent a total colectomy and was genetically diagnosed as FAP. A tumor, 3.0 cm in diameter, was detected in the right lobe of the liver during a screening study for FAP. A colonoscopy and gastroendoscopy revealed numerous adenomatous polyps without carcinoma. The patient underwent a total colectomy and ileo-anal anastomosis and hepatic posterior sectoriectomy. The pathological findings of the liver tumor were compatible with HCA. The resected specimen of the colon revealed multiple colonic adenomatous polyps. Examination of genetic alteration revealed a germ-line mutation of the adenomatous polyposis coli (APC ) gene.Inactivation of the second APC allele was not found. Other genetic alterations in the hepatocyte nuclear factor 1 alpha and β-catenin gene, which are reported to be associated with HCA, were not detected. Although FAP is reported to be complicated with various neoplasias in extracolic organs, only six cases of HCA associated with FAP, including the present case, have been reported. Additional reports will establish the precise mechanisms of HCA development in FAP patients.

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Integrated genotype–phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas

Tóth,

Kirchner,

Longerich

et al. 2023

Virchows Arch

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Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by numerous colorectal adenomas. In addition, FAP patients may develop extraintestinal manifestations. Several cases of hepatocellular adenomas (HCA) detected accidentally in FAP patients have raised the so-far unsolved question of whether they represent a specific manifestation of FAP or a mere coincidence. To investigate the incidence of liver tumors in FAP patients, we analyzed our diagnostic database from 1991 to 2021. Among the 58 hepatic mass lesions identified, five HCAs occurring in three patients with FAP were identified, and comprehensive morphological, immunohistological, and molecular analysis employing targeted next-generation sequencing was conducted for characterization. The HCAs in this study showed no cytological or histological atypia. They displayed a diffuse, strong positivity for glutamine synthetase but no nuclear beta-catenin immunostaining. In two patients, the adenomas showed moderate immunoreactivity against serum amyloid A. Consistent with the diagnosis of FAP, molecular profiling revealed a pathogenic germline mutation of the APC gene in all analyzed adenomas as well as deleterious somatic second hits. All somatic mutations were localized between codons 1345 and 1577. No mutations were found in the catenin beta 1 gene. HCA in FAP patients can be a specific, although rare, neoplastic manifestation of this inborn disease and represents a distinct subgroup of HCAs. These benign tumors represent an important differential diagnosis for hepatic metastases in FAP patients and require adequate clinical and molecular (diagnostic) assessments for optimal patient guidance.

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Hepatocellular adenoma containing hepatocellular carcinoma in a male patient with familial adenomatous polyposis coli: Report of a case

Cited by 14 publications

References 19 publications

Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context

Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context

Hepatocellular adenoma associated with familial adenomatous polyposis coli

Integrated genotype–phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas

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