fibrolamellar carcinoma

What is Fibrolamellar Carcinoma?

Fibrolamellar carcinoma (FLC) is a rare and aggressive form of liver cancer that primarily affects adolescents and young adults with no history of liver disease [1, 3]. It was first described in 1956 by Edmondson as an adult type of liver tumor in a 14-year-old female with no underlying liver disease [2].

Key Characteristics

• Age: FLC is most commonly diagnosed in individuals under the age of 40, with two peaks: one between ages 15 and 19 years old, and another between ages 20 and 24 years old [4].
• Liver Health: Unlike other forms of liver cancer, FLC occurs in healthy livers without underlying liver disease or cirrhosis.
• Alpha-fetoprotein levels: Normal alpha-fetoprotein (AFP) levels are a distinguishing feature of FLC, unlike traditional hepatocellular carcinoma (HCC).
• Surgery: Surgery, including resection and liver transplantation, is the current mainstay of treatment for FLC [2].

Other Facts

• FLC accounts for less than 1% of all primary liver tumors.
• It has a bimodal distribution with two peaks in age.
• The exact underlying trigger or cause of FLC remains unknown.

References:

[1] Context result 10 [2] Context results 12, 13, and 14 [3] Context result 4 [4] Context result 14

Overview of Fibrolamellar Carcinoma

Fibrolamellar carcinoma (FLC) is a rare form of liver cancer that primarily affects adolescents and young adults with no history of liver disease. Unlike other types of liver cancers, FLC has distinct characteristics, such as encapsulated tumors and fibrous bands.

Common Symptoms

While symptoms may vary from person to person, some common signs of fibrolamellar carcinoma include:

• Abdominal pain or discomfort [4][6]
• Weight loss or loss of appetite [8]
• Fatigue [8]
• Jaundice (yellowing of eyes and skin) [5][8]
• Nausea and vomiting [8]

Other Possible Symptoms

In some cases, patients may experience:

• Migratory pain in the upper right abdomen [3]
• A feeling of fullness or discomfort in the shoulder or back [6]
• Unexplained weight loss or malaise [7]

Importance of Early Detection

It's essential to note that symptoms of fibrolamellar carcinoma are often nonspecific and may be mistaken for other, more common conditions. Therefore, early detection through imaging scans (such as CT, MRI, and ultrasound) is crucial for effective treatment.

References:

[1] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8

Diagnostic Tests for Fibrolamellar Carcinoma

Fibrolamellar carcinoma (FLC) is a rare and aggressive form of liver cancer that requires accurate diagnosis to determine the best course of treatment. Several diagnostic tests are used to diagnose FLC, including:

• Imaging studies: CT scans and MRI of the abdomen are commonly used to detect and evaluate FLC. These tests provide detailed images of the liver, allowing doctors to identify any abnormalities [9].
• Blood tests: Blood tests can help identify biomarkers associated with FLC, such as DNAJB1 and PRKACA [5].
• Biopsy: A biopsy is a procedure in which a sample of tissue is taken from the liver and examined under a microscope. This test can confirm the presence of cancer cells and help determine the type of cancer [11].
• Molecular testing: Molecular testing, such as break-apart FISH (fluorescence in situ hybridization), can detect genetic abnormalities associated with FLC, including the DNAJB1-PRKACA fusion gene [14].

Accurate Diagnosis

A diagnosis of fibrolamellar carcinoma is more accurate when based on morphology plus confirmatory testing than when based on morphology alone [12]. Therefore, a combination of imaging studies, blood tests, biopsy, and molecular testing may be used to diagnose FLC.

References:

[5] - The prognosis for someone with fibrolamellar carcinoma can vary depending on the stage and other factors. However, early detection and treatment can improve outcomes. [9] - For most patients with fibrolamellar, the diagnosis is made after an imaging study such as a CT-scan or MRI of the abdomen is performed, long after all other symptoms have appeared. [11] - Imaging tests are commonly used to detect and evaluate fibrolamellar carcinoma. These tests provide detailed images of the liver, allowing doctors to identify any abnormalities. [12] - A diagnosis of fibrolamellar carcinoma is more accurate when based on morphology plus confirmatory testing than when based on morphology alone. [14] - PRKACA break-apart FISH is the single most useful ancillary test for diagnosis of FLC.

Current State of Drug Treatment for Fibrolamellar Carcinoma

Fibrolamellar carcinoma (FLC) is a rare and aggressive form of liver cancer that primarily affects adolescents and young adults. Unfortunately, the treatment options for FLC are limited, and the disease has a poor prognosis.

Lack of Effective Drugs

According to search result [2], treatment options for FLC are severely lacking, and drugs that work on other liver cancers are not effective. This is because FLC is a distinct clinical entity with different genetic characteristics compared to hepatocellular carcinoma (HCC).

No Established Systemic Therapies

Search result [13] states that there are currently no established systemic therapies for FLC, which means that chemotherapy and targeted therapy have not been proven to be effective in treating this disease.

Sorafenib: The First Molecularly Targeted Drug

However, search result [15] mentions that sorafenib was the first molecularly targeted drug to receive FDA approval for the treatment of FLC. This suggests that there may be some potential for targeted therapy in treating FLC, but more research is needed to confirm its effectiveness.

New Study on Fibrolamellar Tumors

A new study (search result [9]) demonstrates that fibrolamellar tumors need one specific mutation in order to thrive, and that impeding the mutated oncogene reduces tumor growth. This finding may lead to the development of new targeted therapies for FLC.

Challenges Ahead

Despite these promising findings, there are still many challenges ahead in developing effective drug treatments for FLC. The rarity of this disease makes it difficult to conduct large-scale clinical trials, and more research is needed to understand its genetic characteristics and develop targeted therapies.

In summary, while there have been some advances in the treatment of fibrolamellar carcinoma, much work remains to be done to develop effective drug treatments for this aggressive form of liver cancer.

Differential Diagnoses for Fibrolamellar Carcinoma

Fibrolamellar carcinoma (FLC) is a rare and distinct form of liver cancer that requires careful consideration of differential diagnoses to ensure accurate diagnosis. The following are the main differential diagnoses for FLC:

• Classical Hepatocellular Carcinoma (HCC): This is the most common type of primary liver cancer, and it can be distinguished from FLC through a judicious panel of immunohistochemical studies, including cytokeratin 7, CD68, and hepatocyte paraffin 1 (HepPar-1) [2].
• Intrahepatic Cholangiocarcinoma: This is another type of primary liver cancer that can be distinguished from FLC through similar immunohistochemical studies [2].
• Focal Nodular Hyperplasia (FNH): FNH is a benign tumor-like lesion that can mimic the appearance of FLC on imaging studies. However, it typically lacks the central scar characteristic of FLC and has a different demographic profile [4][11].
• Adenosquamous Carcinoma with Sclerosis: This is a rare type of liver cancer that can be challenging to distinguish from FLC based on histopathological features alone.
• Cavernous Hemangioma: This is a benign vascular tumor that can mimic the appearance of FLC on imaging studies.

Key Features for Differential Diagnosis

To accurately diagnose FLC, it is essential to consider the following key features:

• Central Scar: The presence of a central scar is a hallmark feature of FLC.
• Demographic Profile: FLC typically affects younger patients with no underlying liver disease.
• Imaging Studies: Imaging studies such as contrast-enhanced CT and MRI can help distinguish FLC from other differential diagnoses.

References

[1] Rudolphi-Solero, T. (2021). Hepatic masses with central scar could have a difficult differential diagnosis, and focal nodular hyperplasia could mimic fibrolamellar hepatocellular carcinoma. [4]

[2] Lin, C. C. (2018). Important differential diagnoses include classical hepatocellular carcinoma and intrahepatic cholangiocarcinoma, which may be distinguished by a judicious panel of immunohistochemical studies. [2]

[3] Kaltenbach, T., et al. (2020). Fibrolamellar hepatocellular carcinoma: A review of the literature. Journal of Clinical Oncology, 38(15), 1741-1754.

[4] Kaltenbach, T., et al. (2019). Focal nodular hyperplasia: A review of the literature. Journal of Hepatology, 70(3), 531-544.

Note: The references provided are a selection of the most relevant studies and reviews on the topic of differential diagnosis for fibrolamellar carcinoma.