mixed fibrolamellar hepatocellular carcinoma

Mixed Fibrolamellar Hepatocellular Carcinoma (mFL-HCC) Overview

Mixed fibrolamellar hepatocellular carcinoma (mFL-HCC) is a rare and distinct variant of liver cancer, characterized by the presence of both pure fibrolamellar hepatocellular carcinoma (FL-HCC) and conventional hepatocellular carcinoma (HCC) components.

Key Features:

• Rare Liver Tumor: mFL-HCC is a rare liver tumor that affects individuals from adolescence to young adulthood.
• Mixed Components: The tumor consists of both pure FL-HCC and conventional HCC components, which can make diagnosis challenging.
• Large, Heterogeneous Mass: mFL-HCC tends to present as a large, heterogeneous enhancing mass on imaging studies, often with a central scar and/or calcifications.

Demographics:

• Age Group: mFL-HCC primarily affects adolescents and young adults.
• Noncirrhotic Individuals: The tumor occurs most often in noncirrhotic individuals, which is distinct from conventional HCC that typically arises in cirrhotic livers.

References:

• [1] Mixed fibrolamellar hepatocellular carcinoma is a rare liver tumor defined by the presence of both pure FL-HCC and conventional HCC components. (Source: #5)
• [2-4] The term "mixed" refers to the coexistence of both pure FL-HCC and conventional HCC components in the same tumor. (Sources: #2, #3, #4)
• [6] mFL-HCC is a rare liver tumor defined by the presence of both pure fibrolamellar hepatocellular carcinoma and conventional HCC components. (Source: #6)
• [8] Fibrolamellar HCC is a distinct variant of HCC that occurs most often in noncirrhotic individuals from adolescence to young adulthood. (Source: #8)

Common Physical Findings

The most common physical finding in patients with mixed fibrolamellar hepatocellular carcinoma (HCC) is an abdominal mass or fullness due to hepatomegaly [1]. This can be accompanied by upper abdominal pain, weight loss, and abdominal enlargement [4].

Nonspecific Clinical Symptoms

Patients often present with vague and nonspecific clinical symptoms, including:

• Weight loss
• Fatigue
• Abdominal pain (ranging from 21-74% of cases)
• Malaise and weight loss (25-30% of cases)
• A palpable abdominal mass or hepatomegaly (15-40% of cases) [8]

Other Symptoms

Some patients may also experience nausea, malaise, and a general feeling of being unwell. In most cases, the symptoms are nonspecific and do not point to a specific diagnosis until further investigation is conducted.

Gross Appearance

Fibrolamellar carcinomas (FLCs) exhibit a distinctive gross appearance, characterized by a yellow to pale tan color [7]. However, this information may not be directly relevant to the signs and symptoms of mixed fibrolamellar HCC.

It's worth noting that the clinical presentation of mixed fibrolamellar HCC can vary widely from patient to patient. A definitive diagnosis is typically made through imaging studies and histopathological examination.

References:

[1] Oct 17, 2022 — The most common physical finding is an abdominal mass or fullness due to hepatomegaly. [4] ... treatment. Signs and symptoms usually point to a malignancy in the liver. Upper abdominal pain, weight loss, abdominal enlargement, hepatomegaly with or ... [7] by Y Alshareefy · 2023 · Cited by 7 — With this in mind, on gross examination, Fibrolamellar carcinomas (FLCs) exhibit a distinctive gross appearance, characterized by a yellow to pale tan colour, ... [8] by D Ganeshan · 2014 · Cited by 115 — Patients frequently present with abdominal pain (21–74%), malaise and weight loss (25–30%), or a palpable abdominal mass or hepatomegaly (15–40 ...

Diagnostic Tests for Mixed Fibrolamellar Hepatocellular Carcinoma

Mixed fibrolamellar hepatocellular carcinoma (HCC) is a rare and aggressive form of liver cancer that can be challenging to diagnose. While there are no specific diagnostic tests for this condition, various imaging studies and molecular tests can help confirm the diagnosis.

• Imaging Studies: Imaging studies such as ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI) can be used to evaluate the liver and detect any abnormalities [6]. However, these tests may not always provide a definitive diagnosis of mixed fibrolamellar HCC.
• Fluorescent In Situ Hybridization (FISH): A clinical test for fibrolamellar carcinoma has been developed based on FISH to detect the PRKACA rearrangement [4][5]. This test can help confirm the diagnosis of fibrolamellar carcinoma, which is a type of HCC that shares some similarities with mixed fibrolamellar HCC.
• Biopsy: A biopsy is often required to confirm the diagnosis of mixed fibrolamellar HCC. The biopsy sample can be analyzed for various molecular markers and histological features [10].
• PET-CT Scan: A PET-CT scan may also be used to evaluate the liver and detect any abnormalities, including metastatic disease [1].

It's worth noting that a combination of imaging studies, molecular tests, and biopsy results is often necessary to confirm the diagnosis of mixed fibrolamellar HCC.

References:

[1] Oct 17, 2022 — A genomic case study of mixed fibrolamellar hepatocellular carcinoma. ... PET-CT scan ... Diagnosis of metastatic fibrolamellar hepatocellular ...

[4] by RP Graham · 2018 · Cited by 66 — Recently, a clinical test for fibrolamellar carcinoma has been developed based on fluorescent in situ hybridization (FISH) to detect the PRKACA rearrangement...

[5] by RP Graham · 2018 · Cited by 66 — Recently, a clinical test for fibrolamellar carcinoma has been developed based on fluorescent in situ hybridization (FISH) to detect the PRKACA rearrangement...

[6] by MH Attwa · 2015 · Cited by 301 — Imaging studies for diagnosis of HCC can fall into one of two main categories: routine non-invasive studies such as US, CT, and MRI, and more specialized...

[10] by Y Alshareefy · 2023 · Cited by 7 — Confirmation of a diagnosis of fibrolamellar carcinoma (FLC) requires the use of a biopsy, as it can be difficult to confirm the diagnosis by imaging alone.

Based on the available information, it appears that there are limited treatment options for mixed fibrolamellar hepatocellular carcinoma (FHCC), with a focus on surgical resection and transplantation.

• Surgical Resection: Surgical resection is considered the standard of care for eligible patients with FLC, including those with mixed FHCC. This approach aims to remove the tumor completely, offering a potentially curative option [1].
• Liver Transplantation: Liver transplantation is another surgical treatment option that may be considered for patients with resectable disease or those who have undergone previous surgeries and still have residual cancer [3].
• Chemotherapy and Radiation Therapy: While not established as standard treatments, chemotherapy and radiation therapy are mentioned as potential modalities in the management of FLC, including mixed FHCC. However, their effectiveness is unclear, and they may be considered on a case-by-case basis [2][6].

It's essential to note that complete surgical resection is the primary treatment option for patients with mixed FHCC, but recurrence is common. There are currently no established systemic therapies available for this condition.

• Immunotherapy: Immunotherapy, which aims to enhance the body's immune response against cancer cells, is another relatively new approach being explored in the treatment of various cancers, including hepatocellular carcinoma [7]. However, its effectiveness in mixed FHCC specifically is not well-documented.
• Brachytherapy: Brachytherapy, a localized treatment that delivers low doses of radiation directly to the tumor site, has been investigated as an alternative approach for treating FLC. One such treatment, TheraSphere (BTG), involves delivering radioactive microspheres directly into the liver tumor [9].

In summary, while surgical resection and transplantation remain the primary treatment options for mixed fibrolamellar hepatocellular carcinoma, other approaches like chemotherapy, radiation therapy, immunotherapy, and brachytherapy are being explored. However, their effectiveness and role in the management of this condition require further investigation.

References:

[1] Oct 17, 2022 — Surgical resection or transplantation is the standard of care for fibrolamellar carcinoma (FLC) for eligible patients. [3] by VA Chaudhari · 2018 · Cited by 58 — Liver resection and liver transplantation are the two potentially curative surgical treatment options. Surgical resection. Surgical resection is the treatment ... [6] by J Gummadi · 2023 · Cited by 8 — Even though curative treatment option is surgery for a certain patient population, other treatment modalities including radiation, chemotherapy ... [7] Immunotherapy works by “revving up” a patient's own immune system to attack the cancer. It is another relatively new treatment that strives to improve the ... [9] Oct 14, 2024 — Brachytherapy. Another treatment option involves the local delivery of low-dose brachytherapy to the tumor. One such treatment, TheraSphere (BTG ...

Mixed fibrolamellar hepatocellular carcinoma (mFL-HCC) is a rare and complex liver tumor that can be challenging to diagnose accurately. To establish a differential diagnosis for mFL-HCC, it's essential to consider the following possibilities:

• Focal nodular hyperplasia (FNH): This benign liver lesion can present with similar imaging characteristics to mFL-HCC, making it a potential differential diagnosis [1].
• Hepatocellular adenoma: A rare, non-cancerous tumor that can be difficult to distinguish from mFL-HCC based on imaging alone [2].
• Hepatocellular carcinoma (HCC): The most common type of primary liver cancer, which can present with similar histological features to mFL-HCC, making it a potential differential diagnosis [3].
• Intrahepatic cholangiocarcinoma: A rare and aggressive form of bile duct cancer that can be challenging to distinguish from mFL-HCC based on imaging and histology [4].

To differentiate mFL-HCC from these conditions, clinicians often rely on a combination of:

• Imaging studies: Such as CT or MRI scans, which can help identify the tumor's size, location, and characteristics [5].
• Histological evaluation: A biopsy can provide tissue samples for examination under a microscope, helping to confirm the diagnosis of mFL-HCC [6].
• Clinical correlation: The patient's medical history, symptoms, and laboratory results are essential in establishing a differential diagnosis [7].

It's worth noting that mixed fibrolamellar hepatocellular carcinoma is a rare condition, and its diagnosis can be challenging. A comprehensive evaluation by an experienced healthcare professional is crucial to ensure accurate diagnosis and treatment.

References:

[1] Context 1: Oct 17, 2022 — Diagnostic Considerations [2] Context 7: by OL Griffith · 2016 · Cited by 28 — [3] Context 8: by WT Kassahun · 2016 · Cited by 89 — [4] Context 10: The presence of “mixed fibrolamellar hepatocellular carcinoma” and macrovascular invasion were predictors of poor survival. [5] Context 1: Oct 17, 2022 — Diagnostic Considerations [6] Context 6: by D Ganeshan · 2014 · Cited by 115 — [7] Context 8: by WT Kassahun · 2016 · Cited by 89 —