ABSTRACT
Alagille syndrome (AS) is an autosomal dominant multisystem disorder which can lead to hepatopathy and the development of focal hepatic lesions. The majority of the hepatic lesions are benign, including regenerative nodules, focal hyperplasia, and adenoma. Hepatocellular carcinoma (HCC) is extremely rare in AS, with very few cases reported in the literature. A 38-year-old man complaining of acute right upper quadrant pain with long-standing diagnosis of Alagille syndrome. On imaging, the patient had a large hepatic mass in the right lobe, with arterial hyperenhancement, washout appearance, and areas of internal hemorrhage. The patient underwent a right hepatectomy and histopathology demonstrated HCC. The patient passed away 3 months after the surgery due to infectious complications. HCC is a rare complication of AS, although rare, it should be considered. This case also emphasizes the need of HCC screening in patients with AS in order to allow an early diagnosis and treatment, which can improve patients' outcome.
ABSTRACT
Nodal peripheral T-cell lymphoma (PTCL) is an aggressive and heterogeneous malignancy with poor prognosis. We studied the prognostic impact of the expression profile of genes related to cell proliferation (CCNA2, TOP2A, and CHEK1), pro-inflammatory activity (NFkB1 and IKBkB), and angiogenesis (VEGF1) in nodal PTCL outcomes, as well as the ability of this genomic panel to discriminate different histological subtypes. We investigated the relative expression of regulator genes in 63 nodal PTCL patients. CCNA2, TOP2A, CHEK1, and NF-kB1 proteins were also assessed by immunohistochemistry. The median patient age was 47 years, 57.1% were male, 34.9% were diagnosed with PTCL-NOS, 28.6% with ALK-/ALCL, 22.2% with ALK+/ALCL, and 14.3% with AITL. The proliferative genes were associated with worse 3-year OS and PFS in PTCL-NOS and better 3-year PFS in ALK-/ALCL. Expression of CCNA2≥median and overexpression of CHEK1 protein (HR 3.793; p = 0.007) were associated with worse OS for all the cohort of nodal PTCL (HR 1.418; p = 0.001). The genomic expression profile tested in this study was not able to discriminate the different subtypes of nodal PTCL, although it showed a distinct prognostic significance between PTCL-NOS and ALCL-ALK. Overexpression of the CCNA2 gene and CHEK1 protein were associated with poor prognosis in the total nodal PTCL cohort.
