Multilineage ACTB mutation in a patient with fibro‐osseous maxillary lesion and pilocytic astrocytoma

Identification of differentially expressed genes between primary lung cancer and lymph node metastasis via bioinformatic analysis

“…Therefore, it may also be involved in the occurrence mechanism of vascular remodeling. Numerous previous studies (43–45) have demonstrated a close association between ACTB and the occurrence of tumors. Lim et al (43) reported that the mutation of ACTB may cause pilocytic astrocytoma in their clinical experience.…”

“…Numerous previous studies (43–45) have demonstrated a close association between ACTB and the occurrence of tumors. Lim et al (43) reported that the mutation of ACTB may cause pilocytic astrocytoma in their clinical experience. Furthermore, the fusions of ACTB and glioma-associated oncogene homolog 1 (GLI1) were regarded as a specific genetic abnormality, which could result in a distinctive type of actin-positive, perivascular myoid tumors, known as ‘pericytoma with the t (7;12) translocation’ (44).…”

Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia

“…7 The same variant in ACTB was also recently described in a fibro-osseous maxillary lesion and astrocytoma in one patient without cutaneous features. 8 Different and germline gain-of-function ACTB variants have been described in Baraitser-Winter syndrome (BWS), 9 which presents with typical craniofacial features, intellectual disability, muscle wasting (particularly of the shoulder girdle), ocular coloboma, frontal pachygyria and sensorineural hearing loss. 10 Recently, germline loss-of-function deletions in ACTB have been associated with a novel developmental disorder, presenting with intellectual disability, growth retardation, typical facial features and renal and cardiovascular malformations.…”