Liver Adenomatosis Research Articles

Liver Transplantation for Adenomatosis: A Single-Center Experience

Liver adenomatosis is characterized by multiple adenomas diffusely distributed throughout the liver parenchyma. Studies addressing liver transplantation for those cases are scarce, and the criteria used to indicate transplantation are still debatable. To report a single-center experience of liver transplantation for diffuse adenomatosis. Single-center retrospective study involving all adult patients who underwent liver transplantation due to adenomatosis from January/2010 to June/2023. A total of 13 patients were identified, corresponding to 0.89% of liver transplants performed during the study period. The mean age was 33 ± 6.55 years, and most of them were female (n = 9, 69.23%). There were 12 transplants with deceased donors and 1 with a right lobe from a living donor. The most frequent reason to preclude liver resection was multiple and large unresectable adenomas in patients without previous liver disease (n = 8, 61.58%), followed by underlying liver disease (Abernethy Malformation, n = 3, 23.07%) and recurrence after liver resection (n = 2, 15.38%). The indications for liver transplantation were high risk of malignant transformation (n = 7, 53.84%), increasing size and number of nodules (n = 3, 23.07%), confirmed malignant transformation (n = 2, 15.38%), and hemorrhage (n = 2, 15.38%). There was 1 perioperative death due to primary non-function. Another patient died during follow-up because of COVID-19. Liver adenomatosis is a rare indication for liver transplantation, with acceptable post-transplant outcomes. Unresectable adenomas with high-risk or confirmed malignant transformation are the main indications for transplant. Reasons for unresectability involve underlying liver disease, multiple and large high-risk nodules, and recurrence after previous resection.

“Malignant” Liver Lesions in an Incidental But High-Risk Patient

Question: A 48-year-old woman who suffered an accidental slip underwent abdominal computed tomography, which revealed multiple hepatic lesions in the whole liver. The patient was asymptomatic and physical examinations were unremarkable. She had normal growth and her body mass index was 23.9. No viral or autoimmune hepatitis was detected. The patient had a history of early-stage cervical carcinoma treated by radical hysterectomy 7 years ago without postoperative adjuvant therapy. History of smoking or taking oral contraceptives was denied. Laboratory tests showed the following results: alanine aminotransferase level of 14 U/L, aspartate aminotransferase level of 30 U/L, alkaline phosphatase level of 49 U/L, and bilirubin level of 13.1 μmol/L. Tumor markers of alpha-fetoprotein and CA19-9 were within normal range. Her blood count, electrolyte, glucose level, renal function, and coagulation tests were normal as well. Subsequent contrast-enhanced magnetic resonance (MR) imaging showed liver steatosis with multiple liver lesions in the whole liver. The largest lesion was found to be 28∗20 mm in segment V. The lesions were slightly hyperintense on T2-weighted sequences, with strong arterial enhancement, which persisted into the portal venous phase (Figure A). What is the diagnosis of the disease? See the Gastroenterology website (www.gastrojournal.org) for more information on submitting to Gastro Curbside Consult. The MR imaging showed multiple solid hepatic lesions characterized by predominant hypervascularization. Malignancy of multifocal hepatocellular carcinoma was first suspected, which is often hyper-vascular and encapsulated. However, cirrhosis and elevated tumor markers were not presented in our patient. Because the patient had a known primary malignancy of cervical carcinoma before, suspected diagnosis of hyper-vascular liver metastases was also included. In addition, focal nodular hyperplasia and liver adenomatosis sharing similar imaging features in noncirrhotic liver of women were considered for the differential diagnosis as well. The case was discussed with a multidisciplinary team. It was agreed that distinguishing the previously mentioned diseases might be challenging with imaging criteria alone and liver biopsy was required. The histopathologic examination showed cord-like arrangement of benign hepatocytes, which first excluded hepatocellular carcinoma and metastatic hepatic cancer. Additionally, moderate steatosis and lobar inflammation were observed (Figure B). The presence of fat and lack of portal venules distinguished adenomatosis from focal nodular hyperplasia, which led to the final diagnosis of liver adenomatosis. Additionally, adenomatosis is also characterized by thin-walled sinusoids supplied by arteries within hepatocytes, resulting in hypervascularity on arterial-phase imaging. Liver adenomatosis (LA) is defined as presence of 10 or more adenomas in the liver, which was first described by Flejou et al in 1985.1Flejou J.F. Barge J. Menu Y. et al.Liver adenomatosis. An entity distinct from liver adenoma?.Gastroenterology. 1985; 89: 1132-1138Abstract Full Text PDF PubMed Scopus (247) Google Scholar The known risk factors for the development of LA include exogenous estrogen or androgens, obesity, and glycogen storage disorder (GSD). Patients with GSD commonly present with hypoglycemia, hepatomegaly, and growth retardation at 3–6 months of age. LA of these patients usually has presentation of less than 20 years and progress in size and number. For our patient, oral contraceptives or steroids were denied. Although genetic testing was not performed, no typical clinical symptoms of GSD were observed at an early age, which lowered the risk of underlying GSD. The diagnosis of LA is mainly based on contrast-enhanced magnetic MR, which is the same for hepatic adenoma. Liver biopsy is recommended for cases in which imaging is inconclusive and histologic confirmation is able to distinguish between the 4 subtypes of adenomas.2Barbier L. Nault J.C. Dujardin F. et al.Natural history of liver adenomatosis: a long-term observational study.J Hepatol. 2019; 71: 1184-1192Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar Based on imaging findings, LA can be further classified as massive or multifocal. The former has a higher risk of hemorrhage, whereas, for asymptomatic patients with multifocal type, the risk of malignant transformation is substantially higher.3Lammert C. Toal E. Mathur K. et al.Large hepatic adenomas and hepatic adenomatosis: a multicenter study of risk factors, interventions, and complications.Am J Gastroenterol. 2022; 117: 1089-1096Crossref PubMed Scopus (2) Google Scholar The patient in our case with multiple lesions raised the question of its management because liver resection is not possible. Considering the possibility that different subtypes of nodules may exist with high-risk malignant transformation, a 3-month imaging surveillance program with MR and tumor marker assessment were instituted in our case. After 2 years of follow-up, the patient lives a normal life without disease progress based on radiographical findings and blood tests.

An Extreme Case of Liver Adenomatosis: Are They All the Same?

Hepatocellular adenoma (HCA) is a rare and benign liver tumor that affects predominantly young and middle-aged women, especially between 30–40 years old. Liver adenomatosis (LA) is defined as the presence of 10 or more HCA. There are authors that report eight different subtypes of HCA, that correlates with clinical and histopathological features, being the inflammatory subtype the most common. We present a case of a 32-year-old Caucasian woman with a history of self-limited episodes of right abdominal pain and an abdominal ultrasound with multiple hypoechogenic liver nodules, suspected of metastasis. She was taking combined oral contraceptive for 6 years. Magnetic Resonance Imaging (MRI) disclosed around 40 nodules, suggestive of HCA. Liver biopsy confirmed HCA, inflammatory subtype. Oral contraceptive was stopped and control MRI 6 months later disclosed reduction of nodules’ dimensions. Management of patients with LA should be based on the size of the largest tumor, as clinical presentation and risk of bleeding or malignancy do not differ between patients with single or multiple HCAs. However, even with biopsy, there is a risk of missampling, raising concern about the real risk of bleeding and malignant potential in patients with different subtypes coexisting in the same liver.

Hepatocellular Adenoma Risk Factors of Hemorrhage: Size Is Not the Only Concern!: Single-center Retrospective Experience of 261 Patients.

Our aim was to determine independent risk factors of clinical bleeding of hepatocellular adenoma (HCA) to define a better management strategy. HCA is a rare benign liver tumor with severe complications: malignant transformation that is rare (5%-8%) and more often, hemorrhage (20%-27%). To date, only size > 5 cm and histological subtype (possibly sonic hedgehog) are associated with bleeding, but these criteria are not clearly established. We retrospectively collected data from a cohort of 268 patients with HCA managed in our tertiary center, from 1984 to 2020 and focused on clinical bleeding. Hemorrhage was considered severe when it required intensive care and moderate when bleeding symptoms required a hospitalization. We included 261 patients, of whom 130 (49.8%) had multiple HCAs or liver adenomatosis. All surgical specimen and liver biopsy were reviewed by an experienced liver pathologist and reclassified in the light of the current immunohistochemistry. Mean duration of follow-up was 93.3 months (range 1-363). We analyzed type, frequency, consequences of bleeding, and risk factors among clinical data and HCA characteristics. Eighty-three HCA (31.8%) were hemorrhagic. There were 4 pregnant women with 1 newborn death. One patient died before treatment. Surgery was performed in 78 (94.0%) patients. Mortality was nil and severe complications occurred in 11.5%. Multivariate analysis identified size (OR 1.02 [1.01-1.02], P < 0.001), shHCA (OR 21.02 [5.05-87.52], P < 0.001), b-catenin mutation on exon 7/8 (OR 6.47 [1.78-23.55], P = 0.0046), chronic alcohol consumption (OR 9.16 [2.47-34.01], P < 0.001) as independent risk factors of clinical bleeding. This series, focused on the hemorrhagic risk of HCA, shows that size, but rather more molecular subtype is determinant in the natural history of HCA.

Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis

SummaryGlycosylation is a fundamental post-translational modification of proteins that boosts their structural diversity providing subtle and specialized biological properties and functions. All those genetic diseases due to a defective glycan biosynthesis and attachment to the nascent glycoproteins fall within the wide area of congenital disorders of glycosylation (CDG), mostly causing multisystem involvement. In the present paper, we detailed the unique serum N-glycosylation of a CDG-candidate patient with an unexplained neurological phenotype and liver adenomatosis harboring a recurrent pathogenic HNF1α variant. Serum transferrin isoelectric focusing showed a surprising N-glycosylation pattern consisting on hyposialylation, as well as remarkable hypersialylation. Mass spectrometry-based glycomic analyses of individual serum glycoproteins enabled to unveil hypersialylated complex N-glycans comprising up to two sialic acids per antenna. Further advanced MS analysis showed the additional sialic acid is bonded through an α2-6 linkage to the peripheral N-acetylglucosamine residue.

Liver adenomatosis and NAFLD developed in the context of hereditary fructose intolerance.

A 36-year-old female patient without medical history was referred to our hospital after the incidental discovery of liver nodules. Liver MRI revealed a dozen of lesions, hyperintense on T1 and T2 weighted sequences with arterial enhancement persisting in portal and late phases. Macroscopic examination of right hepatectomy showed three well defined tumors with red brownish cut surface, the largest of which measured 7.5 cm in diameter.

Aberrant Sialylation in a Patient with a &lt;i&gt;HNF1α&lt;/i&gt; Variant and Liver Adenomatosis

Glycosylation is a fundamental post-translational modification of proteins that boosts their structural diversity providing subtle and specialized biological properties and functions. All those genetic diseases due to a defective glycan biosynthesis and attachment to the nascent glycoproteins fall within the wide area of congenital disorders of glycosylation (CDG), mostly causing multisystem involvement. In the present paper we detailed the unique serum N- glycosylation of a CDG-candidate patient with an unexplained neurological phenotype and liver adenomatosis harbouring a recurrent pathogenic HNF1α variant. Serum transferrin IEF showed a surprising N-glycosylation pattern consisting on hyposialylation as well as remarkable hypersialylation. Mass spectrometry-based glycomic analyses of individual serum glycoproteins enabled to unveil hypersialylated complex N-glycans comprising up to two sialic acids per antenna. Further advanced MS analysis showed the additional sialic acid is bonded through an α2-6 linkage to the peripheral N-acetylglucosamine residue, giving rise to disialo-epitopes never described in human N-glycoproteins.

Natural history of liver adenomatosis: A long-term observational study

Liver adenomatosis (LA) is characterized by the presence of at least 10 hepatocellular adenomas (HCAs), but the natural history of this rare liver disorder remains unclear. Thus, we aimed to reappraise the natural history and the risk of complications in a cohort of patients with at least 10 HCAs. We analyzed the natural history of 40 patients with LA, excluding glycogen storage disorders, in a monocentric cohort. Pathological examination was performed, with immunostaining and molecular biology carried out on surgical specimens or liver biopsies. Forty patients (36 female) were included with a median follow-up of 10.6 (1.9-26.1) years. Six (15%) patients had familial LA, all with germline HNF1A mutations. Median age at diagnosis was 39 (9-55) years. Thirty-three (94%) women had a history of oral contraception, and 29 (81%) women had a pregnancy before LA diagnosis. Overall, thirty-seven (93%) patients underwent surgery at diagnosis. Classification of HCAs showed 46% of patients with HNF1A-mutated HCA, 31% with inflammatory HCA, 3% with sonic hedgehog HCA, 8% with unclassified HCA. Only 15% of the patients demonstrated a "mixed LA" with different HCA subtypes. Hepatic complications were identified in 7 patients: 1 patient (3%) died from recurrent hepatocellular carcinoma after liver transplantation; 6 (15%) had hemorrhages, of which 5 occurred at diagnosis, with 1 fatal case during pregnancy, and 2 occurred in male patients with familial LA. Four patients (10%) had repeated liver resections. Finally, 4 (10%) patients developed extrahepatic malignancies during follow-up. The diversity in HCA subtypes, as well as the occurrence of bleeding and malignant transformation during long-term follow-up, underline the heterogeneous nature of LA, justifying close and specific management. In patients with germline HNF1A mutation, familial LA occurred equally frequently in males and females, with a higher rate of bleeding in male patients. Liver adenomatosis is a rare disease characterized by the presence of 10 or more hepatocellular adenomas that may rarely be of genetic origin. Patients with liver adenomatosis have multiple adenomas of different subtypes, with a risk of bleeding and malignant transformation that justify a specific management and follow-up.

Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series.

Liver adenomatosis (LA) is a rare disease resulting from biallelic inactivation of the hepatocyte nuclear factor-1 alpha (HNF1A) gene, which induces the proliferation of adenoma cells in liver parenchyma. Liver adenomatosis has only been documented in case reports from patients carrying a HNF1A germline mutation. We have evaluated the frequency of LA among a large cohort of patients with HNF1A-maturity onset diabetes of the young (MODY), previously termed "MODY3," and herein describe its clinical, radiological, and pathological characteristics. In all, 137 HNF1A-MODY subjects from 74 families were screened by liver ultrasonography in 13 centers, and 15 additional cases of LA were later included in the series. Liver adenomatosis was confirmed by liver computed tomography, magnetic resonance imaging (MRI), and/or histopathology. Among 137 carriers of an HNF1A mutation, 9 patients (6.5%) from seven families were diagnosed with LA. Diabetes mellitus was present in 87.5% of patients with LA. In 25% of patients, LA was diagnosed due to intra-abdominal or intratumoral bleeding. Liver biochemistry was near normal in all patients. Liver imaging showed adenomas of various sizes and numbers. On MRI, most nodules had the radiological characteristics of steatotic adenomas. Histopathological confirmation of LA was available in 13 cases, and these adenomas were mostly steatotic. Surgery was initially performed in 37.5% of patients, and liver disease progression was observed in 30%. No disease progression was observed in 14 pregnancies. The frequency of LA in a cohort of screened HNF1A-MODY patients and the high incidence of LA progression and/or hemorrhage warrants systematic screening for liver adenomatosis in HNF1A-MODY families.

Abernethy Malformation – Congenital Extra-hepatic Portosystemic Shunt Associated with Multiple Liver Adenomatosis: Case Report

In this article we report a case of Abernethy malformation, also known as congenital extrahepatic portosystemic shunt (CEPS). It is a rare vascular malformation in which the portal vein drains into a systemic vein, diverting it from its normal path to the liver. The clinical presentation is variable and most commonly the shunt is diagnosed during the propaedeutic for investigation of the symptoms. Discussion and diagnosis: R.B.S.R, 21 years old, male, with history of liver disease and previous diagnosis of multiple liver adenomatosis from 9 years of age, was hospitalized for pre-transplant liver evaluation. In the medical history, he presented delayed neuropsychomotor development, congenital scoliosis, neurogenic bladder and single kidney, and had also undergone two surgeries. His initial laboratory tests showed increased transaminases and canalicular enzymes. Ultrasonography, radiography, computed tomography (CT) and magnetic resonance imaging (MRI) were performed, which enabled us to identify and confirm important points for diagnosis. Conclusions: It is important that the radiologist recognize the findings early. CT and MRI are fundamental in the management of the syndrome, since they provide the information for diagnosis, planning, intervention and follow-up, as well as the identification of complications.

Multiple liver adenomatosis with 18F-FDG uptake: A rare manifestation of an infrequent entity

Multiple liver adenomatosis with 18F-FDG uptake: A rare manifestation of an infrequent entity

Liver Adenomatosis and Maturity-Onset Diabetes of the Young (MODY) Type 3 Due to HNF1A Mutation Not Previously Described

The term MODY (maturity-onset diabetes of the young) is allocated for a heterogeneous subgroup of different diseases, characterized by its autosomal dominant inheritance, with high penetrance and early expression in childhood and early youth. They are due to genetic defects in factors involved in the formation and function of pancreatic beta cells. MODY 3 diabetes is the most common in adults. Liver adenomatosis is a rare disease. Diagnosis requires the presence of more than ten adenomas in a healthy parenchyma, the absence of liver storage diseases, and nor prior steroid treatment. In 2002 Bluteau and colleagues find a common genetic defect for both pathologies, HNF1A gene’s mutation. So far just five unrelated families with liver adenomatosis and MODY 3 diabetes due to HNF1A mutation have been reported. To our knowledge only four cases suffering from both pathologies under the age of 18 have been previously reported, and the mutation detected in all of them is P291fs in exon 4 of HNF1A gene. We present the case of a teenager with liver adenomatosis and MODY 3 diabetes, carrying a not previously described HNF1A gene’s mutation. J Endocrinol Metab. 2014;4(3):81-85 doi: http://dx.doi.org/10.14740/jem218w

Liver Adenomatosis and Maturity-Onset Diabetes of the Young (MODY) Type 3 Due to HNF1A Mutation Not Previously Described

The term MODY (maturity-onset diabetes of the young) is allocated for a heterogeneous subgroup of different diseases, characterized by its autosomal dominant inheritance, with high penetrance and early expression in childhood and early youth. They are due to genetic defects in factors involved in the formation and function of pancreatic beta cells. MODY 3 diabetes is the most common in adults. Liver adenomatosis is a rare disease. Diagnosis requires the presence of more than ten adenomas in a healthy parenchyma, the absence of liver storage diseases, and nor prior steroid treatment. In 2002 Bluteau and colleagues find a common genetic defect for both pathologies, HNF1A gene’s mutation. So far just five unrelated families with liver adenomatosis and MODY 3 diabetes due to HNF1A mutation have been reported. To our knowledge only four cases suffering from both pathologies under the age of 18 have been previously reported, and the mutation detected in all of them is P291fs in exon 4 of HNF1A gene. We present the case of a teenager with liver adenomatosis and MODY 3 diabetes, carrying a not previously described HNF1A gene’s mutation. J Endocrinol Metab. 2014;4(3):81-85 doi: http://dx.doi.org/10.14740/jem218w

Liver adenomatosis: serial investigation on MRI

To describe the natural history of liver adenomatosis (LA), including complications and changes in lesion size over time. Eighteen patients with clinical diagnosis of LA were included. Clinical and biochemical information were collected. The initial and follow-up MR studies were reviewed retrospectively to determine change in lesion size and imaging features. Seventeen patients were women (94.4%). The mean age of the initial MR study was 37.0years (18-52years). The median size of the largest lesion was 6.7cm (range 3.0-13.5cm). Intratumoral bleeding was detected on MRI in 9 lesions, in 7 patients (38.8%). The median size for hemorrhagic lesions was 7.6cm (range 4.1-13.5cm). During the mean follow-up period of 29.4 (range 4-98) months, 10 patients had stable disease (55.6%), and 8 patients had tumor regression (44.4%). Of 8 patients who were followed without intervention, 3 patients (37.5%) had spontaneous regression. No malignant transformation or lesion progression was occurred. During an over 2-year follow-up period, the majority of lesions of LA appeared to remain stable or showed tumor regression. Spontaneous tumor regression can be observed in approximately 37% of individuals in the age range of 28-53years.

SAT0366 Absence of Impact of Febuxostat Treatment in Patients with Gout with and Without Altered Fiver Function Tests

BackgroundPatients with altered liver function test (LFTs) do not qualify to enter into clinical trials for registration purposes. Therefore, scarce data are available for patients with altered liver function test...

664 THE INCREASE IN POOR LIFESTYLE FACTORS IS A RISK FOR HEPATOCELLULAR CARCINOMA IN PATIENTS WITH HEPATITIS C VIRUS INFECTION

more common and recently several prognostic molecular features have been described. The risk of bleeding of HCAs is around 18% and of malignant transformation 4%. Two-thirds of HCAs with malignant transformation are b-catenin-activated. We investigated whether liver adenomatosis has the same risk factors to develop complications. Methods: Study population of 36 patients, seen between 1990– 2012 (2 pts excluded with glycogen storage disease). Several liver biopsies or resection specimens were available in 21 pts. Baseline characteristics: female/male ratio = 35/1; age: 38 yrs (17–65); oral contraception (OC) 32/34; duration of OC use: 20 yrs (6–35); Diabetes: 8/36 (21%) and BMI >25: 17/31 (55%). Results: Median follow up is 63 month (4–170). Histology: HNF1a inactivated n=6 (29%), b catenin-activated n=3 (14%), inflammatory n =8 (38%) and mixed (19%): HNF1a + inflammatory (n =1), HNF1a + b catenin-activated (n =1), inflammatory + b catenin-activated (n =2). Complications: bleeding (excluding intratumoral): 3/36 (8%) and malignant transformation: 4/36 (11%). The median minimal size of the nodule with malignant transformation (HCC) was 9cm (8.4–9cm). All of them were b catenin-activated. Treatments and outcome: regression (after stop OC): 6/36 (17%) with complete regression in 1 pt; surgical resections (due to bleeding or suspicion of HCC): 19/36 (53%); LT (due to HCC): 2/36 (6%); none of the pts died. Conclusion: Our series confirms a strong female predilection and a link with the metabolic syndrome. Regression after stop OC was observed in 17% (with one complete regression). The risk of malignant transformation was 11% and was only seen in nodules >8cm. Different nodules can have different phenotype markers. Malignant transformation was only seen in b-catenin activated lesions. The management of liver adenomatosis needs to be adapted to the histological phenotype of the lesions.

Hepatocellular adenoma: an excellent indication for laparoscopic liver resection

ObjectivesLaparoscopic resection for benign liver disease has gained wide acceptance in recent years and hepatocellular adenoma (HA) seems to be an appropriate indication. This study aimed to discuss diagnosis and treatment strategies, and to assess the feasibility, safety and outcomes of pure laparoscopic liver resection (LLR) in a large series of patients with HA. MethodsOf 88 patients who underwent pure LLR, 31 were identified as having HA. Diagnosis was based on radiological evaluation and resections were performed for lesions measuring >5.0cm. ResultsThe sample included 29 female and two male patients. Their mean age was 33.2 years. A total of 27 patients had a single lesion, one patient had two and one had four lesions. The two remaining patients had liver adenomatosis. Mean tumour size was 7.5cm. Three right hepatectomies, 17 left lateral sectionectomies and 11 wedge resections or segmentectomies were performed. There was no need for blood transfusion or conversion to open surgery. Postoperative complications occurred in two patients. Mean hospital stay was 3.8 days. ConclusionsHepatocellular adenoma should be regarded as an excellent indication for pure LLR. Pure LLR is safe and feasible and should be considered the standard of care for the treatment of HA when performed by surgeons with experience in liver and laparoscopic surgery.

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)

Maturity-onset diabetes of the young type 3 (MODY3) is caused by heterozygous mutation in the HNF1A gene. Liver adenomatosis has been reported in MODY3 patients. The patient reported in this paper is a Japanese girl who first developed hepatomegaly, fatty liver, and hepatic dysfunction at age 5 years. Liver biopsy demonstrated steatosis and degeneration of hepatocytes. At that time, blood glucose and HbA1c levels were within normal ranges. Elevated HbA1c was noticed 4 years later, but islet cell and glutamic acid decarboxylase antibodies were not detected in the serum. Therefore, MODY3 was suspected and subsequent analysis of the HNF1A gene identified a heterozygous germline splice donor-site mutation in intron 9. MODY3 patients should be screened by non-invasive liver imaging, and careful follow-up of liver disease should be performed. Conflict of interest:None declared.

Double Heterozygous Germline HNF1A Mutations in a Patient With Liver Adenomatosis

The HNF1A gene is inactivated by mutations in 35% of hepatocellular adenomas (HCAs) (1,2), rare benign liver tumors. In 90% of these HCAs, mutations are biallelic and somatic. In rare cases, one mutation has a germline origin and the second mutation is somatic, thus meeting the genetic criteria of maturity-onset diabetes of the young type 3 (MODY3). Liver adenomatosis (LA) with more than 30 nodules was diagnosed in a 27-year-old patient during the second trimester of a first pregnancy. She has taken oral contraceptives for 10 years and had a slightly abnormal glucose tolerance test at age 18. Gestational diabetes was diagnosed at the 6th month, but she refused insulin therapy and had induced labor at 8 months. Glycemia came back to normal 6 days after delivery and always has been since. Three …

Incidental Findings: A Case Study of Benign Liver Masses

Frequently, liver masses are found in the course of medical imaging examinations. This article presents a unique case study with multiple benign liver masses: hemangiomas, focal nodular hyperplasias (FNHs), and liver cell adenomas (LCAs). Most hemangiomas have a characteristic echogenic appearance on sonography and need no further workup. FNH may be difficult to visualize sonographically because it is composed of normal hepatocytes in an abnormal arrangement. LCAs and liver adenomatosis are more serious, requiring medical intervention and monitoring.