The Role of Dermal Fibroblasts in Nevoid Basal Cell Carcinoma Syndrome Patients: An Overview

Bellei, Barbara; Caputo, Silvia; Carbone, Anna; Silipo, Vitaliano; Papaccio, Federica; Picardo, Mauro; Eibenschutz, Laura

doi:10.3390/ijms21030720

Cited by 8 publications

(4 citation statements)

References 104 publications

(130 reference statements)

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“…Hh ligand-independent tumor was first identified in patients, who harbor germline loss-of-function mutation in PTCH1 (55), with nevoid basal cell carcinoma syndrome (also known as Gorlin syndrome), tending to develop tumors, especially basal cell carcinoma (BCC), medulloblastoma (MB) and rhabdomyosarcoma (56). Oncogenesis in this type is caused by mutations in Hh pathway components, which confer unscheduled Hh activation and cell-intrinsic growth characteristics (Figure 2A).…”

Section: Hedgehog Signaling In Cancermentioning

confidence: 99%

The emerging roles of Hedgehog signaling in tumor immune microenvironment

Wang

Cui

et al. 2023

Front. Oncol.

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The Hedgehog (Hh) signaling pathway is pervasively involved in human malignancies, making it an effective target for cancer treatment for decades. In addition to its direct role in regulating cancer cell attributes, recent work indicates that it has an immunoregulatory effect on tumor microenvironments. An integrated understanding of these actions of Hh signaling pathway in tumor cells and tumor microenvironments will pave the way for novel tumor treatments and further advances in anti-tumor immunotherapy. In this review, we discuss the most recent research about Hh signaling pathway transduction, with a particular emphasis on its role in modulating tumor immune/stroma cell phenotype and function, such as macrophage polarity, T cell response, and fibroblast activation, as well as their mutual interactions between tumor cells and nonneoplastic cells. We also summarize the recent advances in the development of Hh pathway inhibitors and nanoparticle formulation for Hh pathway modulation. We suggest that targeting Hh signaling effects on both tumor cells and tumor immune microenvironments could be more synergistic for cancer treatment.

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Section: Hedgehog Signaling In Cancermentioning

confidence: 99%

The emerging roles of Hedgehog signaling in tumor immune microenvironment

Wang

Cui

et al. 2023

Front. Oncol.

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“…It is caused due to a mutation in the patched (PTCH1) tumour suppressor gene on chromosome 9q22.3-q314, a component of the Hedgehog (Hh) pathway. 5 The major diagnostic criteria for NBCCS are: The OKCs in patients with NBCCS differ from those in patients with isolated OKCs. 4 The age when the fi rst cyst presents is younger in the syndromic group.…”

Section: Radiology Corner < 375mentioning

confidence: 99%

MAXILLOFACIAL RADIOLOGY Nevoid Basal Cell Carcinoma Syndrome

Merbold,

Yakoob

2023

S. Afr. dent. j.

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An 18-year-old male patient presented at our dental clinic in 2009 for a dental assessment. A panoramic radiograph was taken to evaluate dental crowning (Figure 1). An incidental finding was noted in the right maxilla, presenting as a well-demarcated, round, unilocular, radiolucent lesion with a corticated rim extending from the right maxillary tuberosity area to distal of the 16 causing. impaction of the 18. A biopsy was taken and diagnosed as an odontogenic keratocyst (OKC) that was subsequently enucleated. In 2021 the patient returned, and another panoramic radiograph (Figure 2) and a Waters view was taken where calcification of the falx cerebri was seen (Figure 3). On the panoramic radiograph an additional mandibular lesion was visible that presented as a well-demarcated, round, unilocular, radiolucent lesion with a corticated rim extending from distal of the 46 into the missing 47, 48 area. A CBCT was then. taken to further analyse the lesions (Figure 4). A biopsy was taken in the right posterior mandible and diagnosed as an OKC. In 2023 the patient returned and a CBCT was taken. The right maxilla showed increased bone density adjacent to the enucleated lesion (Figure 5).

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“…For instance, it has been acknowledged that fibroblasts can play a significant role in disease pathogenesis by presenting complex phenotypes and functions according to the biological context. Indeed, some fibroblasts (e.g., gingival [ 7 ], dermal [ 8 ], lung [ 9 ], cardiac [ 10 ] and synovial fibroblasts [ 11 ]) can express innate immune receptors to sense pathogens and present antigens, contributing to the immune response [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Metabolic Reprogramming of Fibroblasts as Therapeutic Target in Rheumatoid Arthritis and Cancer: Deciphering Key Mechanisms Using Computational Systems Biology Approaches

Aghakhani

Zerrouk

Niarakis

2020

Cancers

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Fibroblasts, the most abundant cells in the connective tissue, are key modulators of the extracellular matrix (ECM) composition. These spindle-shaped cells are capable of synthesizing various extracellular matrix proteins and collagen. They also provide the structural framework (stroma) for tissues and play a pivotal role in the wound healing process. While they are maintainers of the ECM turnover and regulate several physiological processes, they can also undergo transformations responding to certain stimuli and display aggressive phenotypes that contribute to disease pathophysiology. In this review, we focus on the metabolic pathways of glucose and highlight metabolic reprogramming as a critical event that contributes to the transition of fibroblasts from quiescent to activated and aggressive cells. We also cover the emerging evidence that allows us to draw parallels between fibroblasts in autoimmune disorders and more specifically in rheumatoid arthritis and cancer. We link the metabolic changes of fibroblasts to the toxic environment created by the disease condition and discuss how targeting of metabolic reprogramming could be employed in the treatment of such diseases. Lastly, we discuss Systems Biology approaches, and more specifically, computational modeling, as a means to elucidate pathogenetic mechanisms and accelerate the identification of novel therapeutic targets.

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The Role of Dermal Fibroblasts in Nevoid Basal Cell Carcinoma Syndrome Patients: An Overview

Cited by 8 publications

References 104 publications

The emerging roles of Hedgehog signaling in tumor immune microenvironment

The emerging roles of Hedgehog signaling in tumor immune microenvironment

MAXILLOFACIAL RADIOLOGY Nevoid Basal Cell Carcinoma Syndrome

Metabolic Reprogramming of Fibroblasts as Therapeutic Target in Rheumatoid Arthritis and Cancer: Deciphering Key Mechanisms Using Computational Systems Biology Approaches

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