{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T17:00:55Z","timestamp":1785430855884,"version":"3.56.0"},"reference-count":65,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T00:00:00Z","timestamp":1638835200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004271","name":"Sapienza University of Rome","doi-asserted-by":"publisher","award":["Ateneo 2019"],"award-info":[{"award-number":["Ateneo 2019"]}],"id":[{"id":"10.13039\/501100004271","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Cutaneous and breast implant-associated anaplastic large-cell lymphomas (cALCLs and BI-ALCLs) are two localized forms of peripheral T-cell lymphomas (PTCLs) that are recognized as distinct entities within the family of ALCL. JAK-STAT signaling is a common feature of all ALCL subtypes, whereas DUSP22\/IRF4, TP63 and TYK gene rearrangements have been reported in a proportion of ALK-negative sALCLs and cALCLs. Both cALCLs and BI-ALCLs differ in their gene expression profiles compared to PTCLs; however, a direct comparison of the genomic alterations and transcriptomes of these two entities is lacking. By performing RNA sequencing of 1385 genes (TruSight RNA Pan-Cancer, Illumina) in 12 cALCLs, 10 BI-ALCLs and two anaplastic lymphoma kinase (ALK)-positive sALCLs, we identified the previously reported TYK2-NPM1 fusion in 1 cALCL (1\/12, 8%), and four new intrachromosomal gene fusions in 2 BI-ALCLs (2\/10, 20%) involving genes on chromosome 1 (EPS15-GNG12 and ARNT-GOLPH3L) and on chromosome 17 (MYO18A-GIT1 and NF1-GOSR1). One of the two BI-ALCL samples showed a complex karyotype, raising the possibility that genomic instability may be responsible for intra-chromosomal fusions in BI-ALCL. Moreover, transcriptional analysis revealed similar upregulation of the PI3K\/Akt pathway, associated with enrichment in the expression of neurotrophin signaling genes, which was more conspicuous in BI-ALCL, as well as differences, i.e., over-expression of genes involved in the RNA polymerase II transcription program in BI-ALCL and of the RNA splicing\/processing program in cALCL.<\/jats:p>","DOI":"10.3390\/cancers13246174","type":"journal-article","created":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T20:23:21Z","timestamp":1638908601000},"page":"6174","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K\/AKT Signaling via Neurotrophin Pathway Genes"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3159-5380","authenticated-orcid":false,"given":"Arianna","family":"Di Napoli","sequence":"first","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, Sapienza University, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3274-1746","authenticated-orcid":false,"given":"Davide","family":"Vacca","sequence":"additional","affiliation":[{"name":"Department of Surgical, Oncological and Oral Sciences, Palermo University, 90134 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Bertolazzi","sequence":"additional","affiliation":[{"name":"Tumour Immunology Unit, Human Pathology Section, Department of Health Science, Palermo University, 90134 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Lopez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, Sapienza University, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8569-247X","authenticated-orcid":false,"given":"Maria","family":"Piane","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, Sapienza University, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aldo","family":"Germani","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, Sapienza University, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelina","family":"Rogges","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, Sapienza University, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Pepe","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, Sapienza University, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Santanelli Di Pompeo","sequence":"additional","affiliation":[{"name":"Plastic Surgery Unit, Sant\u2019Andrea Hospital, Sapienza University, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Salgarello","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, Catholic University of Sacred Heart, University Hospital Agostino Gemelli, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaidehi","family":"Jobanputra","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Medical Center, New York Presbyterian Hospital, New York, NY 10032, USA"},{"name":"New York Genome Center, New York, NY 10013, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Hsiao","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Medical Center, New York Presbyterian Hospital, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6743-6149","authenticated-orcid":false,"given":"Kazimierz O.","family":"Wrzeszczynski","sequence":"additional","affiliation":[{"name":"New York Genome Center, New York, NY 10013, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Berti","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6250-048X","authenticated-orcid":false,"given":"Govind","family":"Bhagat","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Medical Center, New York Presbyterian Hospital, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,7]]},"reference":[{"key":"ref_1","unstructured":"Swerdlow, S.H., Campo, E., Harris, N.L., Jaffe, E.S., Pileri, S.A., Stein, H., and Thiele, J. 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