Patient with a novel syndrome with multiple benign hepatic lesions and extrahepatic neoplasms.

Simultaneous occurrence of benign hepatic lesions of different types is a sporadic phenomenon. To the best of our knowledge, we report the first clinical case of a syndrome with simultaneous manifestations of three different entities of benign liver tumors (hepatocellular adenoma, focal nodular hyperplasia and hemangioma) with a novel mutation detected in the liver adenoma and in the presence of a number of further extrahepatic organ neoplasms. Furthermore, we describe for the first time the presence of liver epithelial cells of hepatocytic phenotype expressing cytokeratin 7 (CK7) at the border of the adenoma. These findings may be important for explaining pathogenesis of benign as well as malignant tumors based on genetic and histopathological features.

Focal Nodular Hyperplasia in the Pediatric Population: A Multicenter Experience.

BACKGROUND: Focal nodular hyperplasia (FNH) is a benign liver lesion classically presenting in young females. In children, FNH is rare and its detailed clinicopathologic characteristics remain largely unknown. Furthermore, there are no studies comparing pediatric FNH features to those presenting in adults. METHODS: In this study, we analyzed a total of 47 FNH cases in pediatric patients (age range: 23 days to 18 years) from 3 centers and compared them to a cohort of 31 FNH cases in adult patients (age range: 20-64 years). RESULTS: Of the pediatric cases, 13 cases (28%) had a history of a prior malignancy of which 4 were treated with chemoradiation and stem cell transplantation (SCT), 5 with chemoradiation alone and 3 with chemotherapy and SCT. In the pediatric cases 41 (87%) had a central scar and 46 (98%) had fibrous septa. Both pediatric and adult FNH were more common in female patients. Cases in pediatric patients were also significantly associated with larger size (P = .047), absence of dystrophic vessels (P = .001), absence of sinusoidal dilatation (P = .029), pseudoacini formation (P = .013), and steatosis (P = .029). CONCLUSION: In our experience although most cases of pediatric FNH show the classic histologic features seen in adults, some significant differences exist, and awareness of these findings could aid in the evaluation of these rare cases.

Hepatic involvement in hereditary hemorrhagic telangiectasia mimicking focal nodular hyperplasia.

Accurate diagnosis of hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is important for reducing the risk of complications. Hepatic involvement in HHT is usually asymptomatic, but when present can cause noted morbidity and mortality. A 62-year-old woman presented with moderate upper-abdominal pain and tachycardia. A diagnosis of HHT was made based on the findings of hepatic involvement in a contrast-enhanced abdominal computed tomography (CT) scan, the presence of arteriovenous malformations (AVMs; a.k.a. telangiectasias) on mucocutaneous surfaces, and a history of recurrent epistaxis. Imaging methods are important diagnostic tools in patients suspected of having HHT.

Focal Nodular Hyperplasia and Focal Nodular Hyperplasia-like Lesions.

Focal nodular hyperplasia (FNH) is a benign lesion occurring in a background of normal liver. FNH is seen most commonly in young women and can often be accurately diagnosed at imaging, including CT, MRI, or contrast-enhanced US. In the normal liver, FNH frequently must be differentiated from hepatocellular adenoma, which although benign, is managed differently because of the risks of hemorrhage and malignant transformation. When lesions that are histologically identical to FNH occur in a background of abnormal liver, they are termed FNH-like lesions. These lesions can be a source of diagnostic confusion and must be differentiated from malignancies. Radiologists' familiarity with the imaging appearance of FNH-like lesions and knowledge of the conditions that predispose a patient to their formation are critical to minimizing the risks of unnecessary intervention for these lesions, which are rarely symptomatic and carry no risk for malignant transformation. FNH is thought to form secondary to an underlying vascular disturbance, a theory supported by the predilection for formation of FNH-like lesions in patients with a variety of hepatic vascular abnormalities. These include abnormalities of hepatic outflow such as Budd-Chiari syndrome, abnormalities of hepatic inflow such as congenital absence of the portal vein, and hepatic microvascular disturbances, such as those that occur after exposure to certain chemotherapeutic agents. Familiarity with the imaging appearances of these varied conditions and knowledge of their association with formation of FNH-like lesions allow radiologists to identify with confidence these benign lesions that require no intervention. Online supplemental material is available for this article. ©RSNA, 2022.

Mild changes of hepatic nodular regenerative hyperplasia may cause portal hypertension and be visible on reticulin but not hematoxylin and eosin staining.

Nodular regenerative hyperplasia (NRH) can manifest as alternating parenchymal compression/expansion on hematoxylin and eosin (H&E) staining and as reticulin collapse/nodularity on reticulin staining. Histologic diagnosis can be challenging, especially when there is mild disease and on limited biopsy samples. We reviewed clinical and histologic parameters in a large series of NRH. We identified 60 liver specimens convincingly showing changes of NRH and reviewed them for clinical (age, sex, symptoms, lab values, portal hypertension [PHTN], NRH etiology) and histologic (inflammation, sinusoidal dilation, cholestasis, architectural change, portal vascular abnormalities, degree of changes on reticulin) parameters. The cases came from 28 women and 32 men (median age: 54 years). Most (55, 92%) were biopsies. Thirty patients were symptomatic. Forty-five cases showed mild NRH changes on reticulin; 24 of these (53%) showed them on H&E as well. Fifteen demonstrated well-developed changes on reticulin, which were always seen on H&E as well. Sinusoidal dilation was commonly observed in both of these subgroups (88% overall). Portal vascular abnormalities were seen in 33%. Well-developed NRH was diffuse more often than mild NRH (53% vs. 4%, P < 0.0001). Twenty-nine patients had clinically confirmed or likely PHTN. Of these, 21 showed mild and 8 showed well-developed NRH changes; only 3 had concomitant advanced fibrosis. Chemotherapy was the most frequent known cause of NRH; 30 patients lacked any definite etiology. NRH can be difficult to diagnose on biopsy, particularly since mild changes may be visible on reticulin but not H&E; even these patients can have PHTN. Additionally, NRH is often idiopathic, potentially lowering clinical and pathologic suspicion. Pathologists should have a low threshold for ordering reticulin stains, especially when a patient is known to have PHTN. Sinusoidal dilation, while nonspecific, commonly accompanies NRH.

Epidemiology, pathogenesis, diagnosis, surveillance, and management of hepatocellular carcinoma associated with vascular liver disease.

Vascular liver disease (VLD) presents special challenges in the diagnosis, surveillance, and treatment of hepatocellular carcinoma (HCC). HCC arising in the setting of vascular liver disease is often thought to be due to elevated hepatic arterial blood flow, rather than progressive fibrosis from chronic inflammation as with other chronic liver conditions such as viral hepatitis, autoimmune, and metabolic liver diseases. Vascular alteration inherent in VLD often impedes HCC non-invasive diagnosis and loco-regional treatment that depend on vascular properties found in typical liver environment. Benign and pre-malignant liver nodules such as focal nodular hyperplasia and hepatocellular adenoma are also more common in certain VLDs, further adding to surveillance and diagnostic challenges. In this synopsis, we aimed to review available literature on the epidemiology, surveillance, diagnosis, and management of HCC in patients with VLD and specifically Budd-Chiari syndrome, congenital porto-systemic shunts, Fontan-associated liver disease, hereditary hemorrhagic telangiectasia.

Focal Nodular Hyperplasia and Hepatic Adenoma: Evaluation and Management.

Focal nodular hyperplasia and hepatocellular adenoma are benign liver lesions that occur most frequently in women and may be found as incidental findings on imaging. hepatocellular adenomas may be infrequently associated with malignant progression or risk of rupture and as such, require surveillance or definitive treatments based on their size threshold. It is important clinically to differentiate these lesions, and utilizing imaging modalities such as contrast enhanced ultrasound or magnetic resonance imaging can be helpful in diagnosis. Further molecular subtyping of hepatocellular adenoma lesions may be beneficial to describe risk factors and potential future clinical complications.

[Hepatic epithelioid angiomyolipoma/PEComa and focal nodular hyperplasia in a patient with a previous history of cutaneous melanoma]. / Angiomiolipoma epitelioide/PEComa hepático e hiperplasia nodular focal en una paciente con antecedentes de melanoma cutáneo.

Hepatic perivascular epithelioid cell tumors (PEComas) are uncommon mesenchymal neoplasms. PEComas concurrent with other hepatic lesions is a very rare occurrence, with only two previously reported cases. We report a primary hepatic PEComa associated with focal nodular hyperplasia in a patient with a previous history of cutaneous melanoma. Diagnostic imaging studies suggested a hepatic adenoma and the patient underwent a segmentectomy. The tumor was mainly composed of epithelioid cells, adipose tissue and smooth muscle fibers intermixed with blood vessels. The neoplastic cells were diffusely immunoreactive for HMB-45, Melan-A and smooth muscle actin, but not for Hepatocyte, S100, MITF or BRAF. Molecular studies were negative for BRAFV600 mutation. The final diagnosis was hepatic epithelioid angiomyolipoma/PEComa. The differential diagnosis of hepatic PEComa is discussed.

Uncommon imaging evolutions of focal liver lesions in cirrhosis.

OBJECTIVE: The purpose of this article is to describe and illustrate uncommon imaging evolutions of benign (i.e., cyst, hemangioma, focal nodular hyperplasia-like nodules, and hepatic angiomyolipoma) and malignant (i.e., HCC and non HCC malignancies) lesions in a cirrhotic liver. The content highlights relevant pathogenesis and imaging clues for proper differential diagnosis. Revision of prior imaging and knowledge of these scenarios may help the abdominal radiologist to reach a noninvasive diagnosis and direct the patient to the most appropriate clinical management. CONCLUSION: Uncommon imaging evolutions of focal liver lesions in cirrhosis may represent a challenge for the abdominal radiologist, with atypical changes in size, and internal vascularization changes that may lead to misdiagnoses.

Regenerative nodular hyperplasia, portal vein thrombosis and primary myelofibrosis: an unusual triple association.

We report a case of a regenerative nodular hyperplasia with a portal vein cavernomatosis with a subsequent progression to symptomatic, occlusive thrombosis of the superior mesenteric vein. A thorough investigation resulted in a final diagnosis of primary myelofibrosis associated with the V617F mutation in the JAK2 gene.

What is Changing in Indications and Treatment of Focal Nodular Hyperplasia of the Liver. Is There any Place for Surgery?

ABSTRACT Focal nodular hyperplasia (FNH) is a common benign liver tumor, which occurs in the vast majority of the cases in young women. FNH represents a polyclonal lesion characterized by local vascular abnormalities and is a truly benign lesion without any potential for malignant transformation. A retrospective single institution analysis of 227 FNH patients, treated from 1990 to 2016 and a review of studies reporting surgical therapy of overall 293 patients with FNH was performed. Indications for resection with a focus on diagnostic workup, patient selection, surgical mode and operative mortality and morbidity have been analysed. Ninety three patients underwent elective hepatectomy and 134 patients observation alone, where median follow-up was 107 months. Postoperative complications were recorded in 14 patients, 92% of patients reported an improvement with respect to their symptoms. Overall among 293 patients underwent surgery in the series, included to this review, there was a morbidity of 13%, where median follow-up was 53 months. Systematic follow-up remains the gold standard in asymptomatic patients with FNH. Flowever elective surgery should be considered in symptomatic patients, in those with marked enlargement and in case of uncertainty of diagnosis. Surgery for FNH is a safe procedure with low morbidity and very good long term results as far as quality of life after surgery is concerned and surely an integral part of the modern management of FNH.

What is Changing in Indications and Treatment of Focal Nodular Hyperplasia of the Liver. Is There Any Place for Surgery?

Focal nodular hyperplasia (FNH) is a common benign liver tumor, which occurs in the vast majority of the cases in young women. FNH represents a polyclonal lesion characterized by local vascular abnormalities and is a truly benign lesion without any potential for malignant transformation. A retrospective single institution analysis of 227 FNH patients, treated from 1990 to 2016 and a review of studies reporting surgical therapy of overall 293 patients with FNH was performed. Indications for resection with a focus on diagnostic workup, patient selection, surgical mode and operative mortality and morbidity have been analysed. Ninety three patients underwent elective hepatectomy and 134 patients observation alone, where median follow-up was 107 months. Postoperative complications were recorded in 14 patients, 92% of patients reported an improvement with respect to their symptoms. Overall among 293 patients underwent surgery in the series, included to this review, there was a morbidity of 13%, where median follow-up was 53 months. Systematic follow-up remains the gold standard in asymptomatic patients with FNH. However elective surgery should be considered in symptomatic patients, in those with marked enlargement and in case of uncertainty of diagnosis. Surgery for FNH is a safe procedure with low morbidity and very good long term results as far as quality of life after surgery is concerned and surely an integral part of the modern management of FNH.

Transplantation for Large Liver Tumors in the Setting of Abernethy Malformation.

In this study, we report our experiences on the role of transplantation in 2 patients with large liver tumors in the setting of Abernethy malformation. Patient 1 was a 17-year-old boy who was referred for hepatic masses and recurrent hepatic encephalopathy episodes. Computed tomography and magnetic resonance imaging showed 2 large tumors (4 and 8 cm) in the liver. The portal vein drained directly into the vena cava. Core biopsy of the larger mass revealed fibrosis and regenerative hyperplasia. There were hyperintense signals in the T1-weighted images in the globus pallidus. The Stanford-Binet intelligence scale showed moderate mental retardation (IQ 39); however, the patient showed good ability for caring for himself. His cognitive defect was ascribed partially to chronic encephalopathy. The patient received a right hepatic lobe from his older brother. The congenital portacaval shunt was disconnected to provide inflow to the graft. Pathologic examination of the explanted liver revealed no evidence of malignancy. His IQ improved to 75 at 29 months posttransplant. The hyperintensity of the globus pallidus on magnetic resonance imaging disappeared. The patient has maintained a normal life during 9 years of follow-up. Patient 2 was a 17-year-old girl who was referred for multiple hepatic masses; she had no symptoms at admission. Magnetic resonance imaging showed type 1 Abernethy malformation and multiple hepatic masses (largest was 10 cm), which appeared to be hyperplastic lesions. Because malignancy could not be definitely excluded, she received a right lobe without the middle hepatic vein from her uncle. Pathologic examination of the explanted liver showed localized nodular hyperplasia; there was no evidence of malignancy. She has maintained normal life activities during 3 years of follow-up. Liver transplant is a curative treatment option for patients with large liver tumors, replacing the hepatic parenchyma in the setting of Abernethy malformation.