Tumor markers involved in invasion of pancreatic cancer

Sara Kamali Zonouzi — Wed, 12 Mar 2025 12:07:06 +0330

Pancreatic cancer is still one of the most lethal malignancies across the world, and hence exploring new biomarkers related to the progression and invasive nature of this cancer is important to overcome its resistance to various types of treatments through the design of new therapeutic strategies. Several markers have been shown to play a role in pancreatic cancer invasion, but CA19-9, CA125, and noncoding RNAs, including microRNAs, long noncoding RNAs, and circular RNAs, are the most common ones. In the current review, the role of these markers in pancreatic cancer progression, invasion, and metastasis, as well as related mechanisms, has been provided, and their potential to be utilized in pancreatic cancer diagnosis and treatment has been discussed.

De novo CXCR4 Mutation in WHIM Syndrome: Report of a 4-year-old Case Without Wart and Myelokathexis

Wed, 12 Mar 2025 12:04:42 +0330

Background: WHIM syndrome ( Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome), a type of severe congenital neutropenia (SCN), involves Warts, Hypogammaglobulinemia, Infections, and Myelokathexis as its main components of clinical presentation, which results from mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene.

Objective: Here, we present an Iranian 4-year-old girl with severe congenital neutropenia without warts and normal bone marrow examination, lacking evidence of myelokathexis.

Methods: Whole Exome Sequencing (WES) was performed for the patient. Subsequently, Sanger segregation/validation was done of the patient and her parents.

Results: Whole exam sequencing identified a heterozygous stop variant mutation in CXCR4 (NM_001008540.2:c.1012C>T; p.Arg338Ter) in the patient.

Conclusion: Two of the main clinical criteria in WHIM syndrome, including warts and myelokathexis, were not observed in our patient. So, the absence of warts is not deceptive in ruling out the disease. This case report also represents the high importance of genetic analysis as a primary tool for the accurate differential diagnosis of patients with neutropenia.

Immunology and Genetics Journal

Tumor markers involved in invasion of pancreatic cancer

De novo CXCR4 Mutation in WHIM Syndrome: Report of a 4-year-old Case Without Wart and Myelokathexis