Luying Wang

Muir-Torre syndrome (MTS) is an uncommon autosomal dominant disorder characterized by germline mutations in DNA mismatch repair (MMR) genes, resulting in microsatellite instability (MSI). It is regarded as a variant form of Lynch syndrome, characterized by the co-occurrence of at least one cutaneous sebaceous neoplasm and at least one visceral malignancy. Furthermore, studies have indicated that MTS may manifest in transplant recipients and in immunocompromised patients. The diagnosis and management of such cases necessitate a multidisciplinary approach. Here, we report a case of a Chinese patient with a history of rectal cancer who developed multiple sebaceous adenomas during immunosuppressive therapy six years after renal transplantation. This case report not only provides additional evidence for the inducing effect of immunosuppressants on MTS but also emphasizes the importance of a thorough diagnosis of MTS and the significance of preventing the development of potential skin tumors in patients with MTS.

Infantile hemangiomas are common vascular tumors with a specific natural history. The proliferation and regression mechanism of infantile hemangiomas may be related to the multilineage differentiation ability of hemangioma stem cells, but the specific mechanism is not well elucidated. KIAA1429 is an N⁶‐methyladenosine methylation‐related protein that can also exert its role in a methylation‐independent manner. This study aims to explore the function of KIAA1429 in infantile hemangiomas. qRT‐PCR, western blotting, and immunostaining were performed to verify the expression of KIAA1429. The endothelial and fibroblast‐like phenotypes of hemangioma endothelial cells were detected after KIAA1429 knockdown and overexpression. The stemness properties of hemangioma endothelial cells and the underlying mechanism of KIAA1429 in hemangiomas were also investigated. Nude mouse models of infantile hemangiomas were conducted to ascertain the effects of KIAA1429 in vivo. The results showed that KIAA1429 was highly expressed in infantile hemangiomas, particularly in involuting hemangiomas. In vitro experiments confirmed that KIAA1429 inhibited the endothelial phenotype, enhanced the differentiation ability, and promoted the fibroblast‐like phenotype of hemangioma endothelial cells by inducing endothelial cell transition to facultative stem cells. However, the effect of KIAA1429 on the potential target was shown to be independent of N⁶‐methyladenosine methylation modification. Mouse models further revealed that KIAA1429 could inhibit the proliferation and promote the regression of hemangiomas. In conclusion, this study found that KIAA1429 played an important role in the regression of infantile hemangiomas by enhancing the stemness of hemangioma endothelial cells and could be a potential treatment target for infantile hemangiomas.

Background The outcomes of propranolol treatment remain controversial for parotid hemangiomas, which may be inferior to outcomes for infantile hemangiomas (IHs) at other sites. Methods Patients with IHs treated with oral propranolol were retrospectively reviewed. Outcomes of propranolol therapy for parotid hemangiomas and other IHs were examined. Regression models were conducted to analyze the factors associated with the outcomes for parotid hemangiomas. Results Longer treatment duration was needed for parotid hemangiomas (p = 0.012) at a comparable efficacy and relapse rate as those of IHs at other sites. The higher efficacy was associated with early intervention before 4 months of age (OR = 5.2, p = 0.011), while, the lower relapse rate was associated with adequate treatment duration over 6 months (OR = 9.2, p = 0.010). Conclusions With a longer propranolol treatment duration, parotid hemangiomas could achieve a comparable efficacy and relapse rate as other IHs. Early treatment initiation and adequate treatment duration benefited the outcomes.