Integrative Analysis of MUC4 to Prognosis and Immune Infiltration in Pan-Cancer: Friend or Foe?

Gao, Xiao-Peng; Dong, Jiejie; Xie, Tian; Guan, Xiaoqing

doi:10.3389/fcell.2021.695544

Cited by 26 publications

(17 citation statements)

References 38 publications

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“…MUC4 encodes transmembrane mucin 4 proteins, which are overexpressed in a variety of cancers (10). In our case, MUC4 was mutated at multiple sites, and may have been associated with the proliferation and metastasis of the tumor (11). FGFR4 is associated with a poor prognosis of rhabdomyosarcoma and may be a potential therapeutic target for sarcoma (12).…”

Section: Discussionmentioning

confidence: 67%

A case report of malignant neuroectodermal tumor of the gastrointestinal tract without common gene fusion in a soft tissue tumor

Liu¹,

Zeng²,

Zhao³

et al. 2022

J Gastrointest Oncol

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Background: Malignant gastrointestinal neuroectodermal tumor (GNET) is extremely rare in soft tissue sarcoma and occurs mainly in the small intestine of young adults, without sex predilection. Local recurrence and metastasis are common in GNET, resulting in a poor prognosis. GNETs are histologically and immunohistochemically similar to many sarcomas, especially clear cell sarcoma (CCS), making their identification difficult. The majority of GNET cases have EWSR1 gene rearrangements, which can be characterized at the genetic level and provide important clues for diagnosis of GNETs. However, very few studies have been conducted on GNET cases without common gene fusion in soft tissue tumors.Case Description: A 48-year-old woman was admitted due to melena and worsening fatigue and dizziness. An abdominal computed tomography scan revealed a mass arising from the stomach with hepatic metastases. Based on the evidence of histology and immunohistochemistry, the final diagnosis was GNET. Then we performed a gene analysis of the tumor using fluorescence in situ hybridization and nextgeneration sequencing, including whole-exome sequencing and multiplex polymerase chain reaction. We did not detect any common gene fusion in the soft tissue tumors, such as EWSR1. The results of the wholeexome sequencing revealed 11 genes involved in the occurrence and development of soft tissue sarcomas.Six months after surgery, the patient's abdominal computed tomography (CT) showed new metastases in the liver. Hence, we used targeted therapy and immunotherapy to treat her and liver metastases were reduced.Conclusions: Genetic diagnosis is one of the important evidences for the diagnosis of GNET. However, the cases of GNET with negative EWSR1 expression are rare, which makes clinical diagnosis difficult. Our findings may extend genetic understandings of GNET and provide more help for clinical diagnosis of GNET.

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Section: Discussionmentioning

confidence: 67%

A case report of malignant neuroectodermal tumor of the gastrointestinal tract without common gene fusion in a soft tissue tumor

Liu¹,

Zeng²,

Zhao³

et al. 2022

J Gastrointest Oncol

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“…MUC4 belongs to membrane-bound mucins localized on chromosome band 3q29. It is a cancer gene aberrantly produced in a variety of cancers and functionally linked to tumor initiation, metastasis, and interaction of tumor cells with the components of the tumor microenvironment ( 27 ). However, it is still ambiguous whether MUC4 can play a promoting or inhibiting effect across the cancer types, depending on the particular cancer and cell context ( 28 ).…”

Section: Discussionmentioning

confidence: 99%

Cell origin and genome profile difference of penoscrotum invasive extramammary Paget disease compared with its in situ counterpart

et al. 2022

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Penoscrotum extramammary Paget disease (pEMPD) is a rare cutaneous carcinoma with an unknown cell origin. pEMPD always presents as a tumor in situ with an indolent process, whereas some progress into invasive forms with more aggressive behavior. The in situ and invasive cases display different morphologies and biological behavior, and thus far, a relationship between these two components has not been demonstrated. Immunohistochemistry was used to disclose the immunotype of pEMPD, and the results revealed that invasive/in situ pEMPD possessed with some identical immunophenotypes such as CK7, P63, and CK10, which inferred the clonal relatedness. The variable expressions of GCDFP-15 and carcino embryonic antigen hinted that tumor cell origin might be an epidermal sweat gland in epiderma. In our cohort, invasive pEMPD presented increased expression of androgen receptor and decreased MUC5CA expression, and these two changes might bring to the shift of invasive phenotype. To better understanding the relationship between these distinct tumor forms, we performed whole exome sequencing testing to evaluate overlapping genomic alterations of six paired invasive/in situ pEMPDs. The results showed that missense mutation was the predominant mutation type, and C>T transition accounted for 65.1% in all SNP mutation. Among the top 20 differential genes obtained from the six paired invasive/in situ pEMPD analysis, MUC4 (one missense, one in frame del, and one multi-hit), AHNAK2 (two missense and one multi-hit), DOT1L (two missense and one multi-hit), and FRG1 (two missense and one-multi hit) mutations were most enriched in invasive pEMPDs, which postulated that these genes may play roles in the disease progression.

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“…In addition, combining serological mucin profiles with immune biomarkers could be another potential strategy for early cancer detection. Immunological parameters, such as immune infiltrates, the cytokine profile, and immune phenotypes, are considered critical in analyzing biological specimens for early cancer diagnosis [ 321 , 322 , 323 ]. In view of a previous study showing that increased glycosylation altered the binding of anti-MUC1 antibodies [ 34 ], we believe that it is important to analyze mucin glycosylation before considering a patient sample for biomarker analysis.…”

Section: Conclusion and Future Perspectivementioning

confidence: 99%

Mucins as Potential Biomarkers for Early Detection of Cancer

Gautam

Κhan

Gopalakrishnan

et al. 2023

Cancers

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Early detection significantly correlates with improved survival in cancer patients. So far, a limited number of biomarkers have been validated to diagnose cancers at an early stage. Considering the leading cancer types that contribute to more than 50% of deaths in the USA, we discuss the ongoing endeavors toward early detection of lung, breast, ovarian, colon, prostate, liver, and pancreatic cancers to highlight the significance of mucin glycoproteins in cancer diagnosis. As mucin deregulation is one of the earliest events in most epithelial malignancies following oncogenic transformation, these high-molecular-weight glycoproteins are considered potential candidates for biomarker development. The diagnostic potential of mucins is mainly attributed to their deregulated expression, altered glycosylation, splicing, and ability to induce autoantibodies. Secretory and shed mucins are commonly detected in patients’ sera, body fluids, and tumor biopsies. For instance, CA125, also called MUC16, is one of the biomarkers implemented for the diagnosis of ovarian cancer and is currently being investigated for other malignancies. Similarly, MUC5AC, a secretory mucin, is a potential biomarker for pancreatic cancer. Moreover, anti-mucin autoantibodies and mucin-packaged exosomes have opened new avenues of biomarker development for early cancer diagnosis. In this review, we discuss the diagnostic potential of mucins in epithelial cancers and provide evidence and a rationale for developing a mucin-based biomarker panel for early cancer detection.

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Integrative Analysis of MUC4 to Prognosis and Immune Infiltration in Pan-Cancer: Friend or Foe?

Cited by 26 publications

References 38 publications

A case report of malignant neuroectodermal tumor of the gastrointestinal tract without common gene fusion in a soft tissue tumor

A case report of malignant neuroectodermal tumor of the gastrointestinal tract without common gene fusion in a soft tissue tumor

Cell origin and genome profile difference of penoscrotum invasive extramammary Paget disease compared with its in situ counterpart

Mucins as Potential Biomarkers for Early Detection of Cancer

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