Melanoma and mastocytosis: is really only a coincidence?

Capo, Alessandra; Goteri, Gaia; Mozzicafreddo, Giorgio; Serresi, Stefano; Giacchetti, Alfredo

doi:10.1111/ced.13717

Cited by 6 publications

(9 citation statements)

References 5 publications

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“…Notably, mast cells play critical roles in both innate and adaptive immunity producing large subsets of mediators and reshaping the tumor microenvironment of melanoma. Several case reports and studies have confirmed an enhanced incidence of melanoma among patients with mastocytosis (49)(50)(51). Mast cells act as pro-tumor in the TME (52)(53)(54).…”

Section: Discussionmentioning

confidence: 93%

Characterization of Immune Infiltration and Construction of a Prediction Model for Overall Survival in Melanoma Patients

Zhu

Liu

2021

Front. Oncol.

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Reports indicate that the use of anti-programmed cell death-1 (PD-1) and death ligand-1 (PD-L1) monoclonal antibodies for the treatment of patients diagnosed with melanoma has demonstrated promising efficacy. Nonetheless, this therapy is limited by the resistance induced by the tumor microenvironment (TME). As such, understanding the complexity of the TME is vital in enhancing the efficiency of immunotherapy. This study used four different methods to estimate the infiltrating level of immune cells. Besides, we analyzed their infiltration pattern in primary and metastatic melanoma obtained from The Cancer Genome Atlas (TCGA) database. As a consequence, we discovered a significantly higher infiltration of immune cells in metastatic melanoma compared to primary tumor. Consensus clustering identified four clusters in melanoma with different immune infiltration and clusters with higher immune infiltration demonstrated a better overall survival. To elucidate the underlying mechanisms of immune cell infiltration, the four clusters were subdivided into two subtypes denoted as hot and cold tumors based on immune infiltration and predicted immune response. Enrichment analysis of differentially expressed genes (DEGs) revealed different transcriptome alterations in two types of tumors. Additionally, we found tyrosinase-related protein1 (TYRP1) was negatively correlated with CD8A expression. In vitro experiments showed that knockdown TYRP1 promoted the expression of HLA-A, B, and C. Eventually, we constructed a prediction model which was validated in our external cohort. Notably, this model also performed effectively in predicting the survival of patients under immunotherapy. In summary, this work provides a deeper understanding of the state of immune infiltration in melanoma and a prediction model that might guide the clinical treatment of patients with melanoma.

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Section: Discussionmentioning

confidence: 93%

Characterization of Immune Infiltration and Construction of a Prediction Model for Overall Survival in Melanoma Patients

Zhu

Liu

2021

Front. Oncol.

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“…13 Melanocytes likewise express c-KIT, and recent findings suggest that both melanocytes and mastocytes are contingent on c-KIT and c-KIT ligand for proliferation as c-KIT serves as an upstream regulator of BRAF along with numerous other tumor suppressor genes. 6,13,14 Importantly, c-KIT and BRAF are both common mutations found in melanomas; c-KIT mutations are more frequently present in acral and mucosal melanomas while BRAF mutations are more commonly found in cutaneous melanomas. 15 Whether a melanoma is BRAF or c-KIT mutated has profound treatment implications as there has been recent development of targeted therapies.…”

Section: Discussionmentioning

confidence: 99%

“…A somatic activating mutation in c‐KIT is associated with the majority of cases of mastocytosis 13 . Melanocytes likewise express c‐KIT , and recent findings suggest that both melanocytes and mastocytes are contingent on c‐KIT and c‐KIT ligand for proliferation as c‐KIT serves as an upstream regulator of BRAF along with numerous other tumor suppressor genes 6,13,14 . Importantly, c‐KIT and BRAF are both common mutations found in melanomas; c‐KIT mutations are more frequently present in acral and mucosal melanomas while BRAF mutations are more commonly found in cutaneous melanomas 15 .…”

Section: Discussionmentioning

confidence: 99%

Mastocytosis and melanoma: a case series

et al. 2021

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“…Mostly presence of mast cells in tumours is associated with poor prognosis, but for prostate cancer and colorectal cancer is a favorable prognostic factor. The use of kinase inhibitors could improve cancer treatment, but the main problem with this treatment is the second mutation in c-Kit, which changes the biding region of kinase inhibitor, and the result is drug resistance [1], [2], [3], [4], [5], [6].…”

Section: Discussionmentioning

confidence: 99%

Melanoma and Mastocytosis

Vojvodić¹,

Vlaskovic-Jovicevic²,

Vojvodić³

et al. 2019

Open Access Maced J Med Sci

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There are numerous cases reports and studies confirming the enhanced incidence of melanoma among patients with mastocytosis, especially with systemic mastocytosis. These two diseases are arising from two different types of cells; melanoma arises from neural crest cells and mastocytosis from hematopoietic stem cells. But there are a lot of similarities between the two diseases. The most important and significant is the dependence of the growth factor receptor c-KIT and c-KIT ligand (stem cell factor) for their growth and development. Also, expression of the STAT3 (signal transducer and activator of transcription 3) and transcription factors MITF (microphthalmia-associated transcription factor) make the connection between melanoma and mastocytosis.

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Melanoma and mastocytosis: is really only a coincidence?

Cited by 6 publications

References 5 publications

Characterization of Immune Infiltration and Construction of a Prediction Model for Overall Survival in Melanoma Patients

Characterization of Immune Infiltration and Construction of a Prediction Model for Overall Survival in Melanoma Patients

Mastocytosis and melanoma: a case series

Melanoma and Mastocytosis

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