{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T02:41:09Z","timestamp":1790476869938,"version":"4.1.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Diagn Pathol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent inflammatory rhabdomyoblastic tumor (IRMT), adrenal pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1 (NF1). To our knowledge, this is the first time that this constellation of tumors has been described in the literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A female patient in her late 20s with known NF1 was diagnosed with an inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a short succession. IRMT was found to harbor a near-haploid genome and displayed a typical immunohistochemical profile as well as a focal aberrant p53 expression pattern.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case report strengthens the theory that defects in the tumor suppressor NF1 play a central role in the pathogenesis of inflammatory rhabdomyoblastic tumors and that IRMT may be part of the spectrum of neurofibromatosis type 1 related tumors.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13000-024-01503-3","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T01:02:03Z","timestamp":1718067723000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1: a case report"],"prefix":"10.1186","volume":"19","author":[{"given":"Otto","family":"Jokelainen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Myllykangas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katri","family":"Rajala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarkko","family":"Marttila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reijo","family":"Sironen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"1503_CR1","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/j.rmed.2019.01.002","volume":"149","author":"SF Alves J\u00fanior","year":"2019","unstructured":"Alves J\u00fanior SF, Zanetti G, Alves de Melo AS, et al. Neurofibromatosis type 1: state-of-the-art review with emphasis on pulmonary involvement. Respir Med. 2019;149:9\u201315. https:\/\/doi.org\/10.1016\/j.rmed.2019.01.002.","journal-title":"Respir Med"},{"key":"1503_CR2","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1016\/j.rmed.2019.01.002","volume":"59","author":"B Garcia","year":"2022","unstructured":"Garcia B, Catasus N, Ros A, et al. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered? J Med Genet. 2022;59:1017\u201323. https:\/\/doi.org\/10.1016\/j.rmed.2019.01.002.","journal-title":"J Med Genet"},{"key":"1503_CR3","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.rmed.2019.01.002","volume":"27","author":"W Merchant","year":"1995","unstructured":"Merchant W, Calonje E, Fletcher CDM. Inflammatory leiomyosarcoma: a morphological subgroup within the heterogeneous family of so-called inflammatory malignant fibrous histiocytoma. Histopathology. 1995;27:525\u201332. https:\/\/doi.org\/10.1016\/j.rmed.2019.01.002.","journal-title":"Histopathology"},{"key":"1503_CR4","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1038\/s41379-018-0145-0","volume":"32","author":"AP Martinez","year":"2019","unstructured":"Martinez AP, Fritchie KJ, Weiss SW, et al. Histiocyte-rich rhabdomyoblastic tumor: Rhabdomyosarcoma, rhabdomyoma, or rhabdomyoblastic tumor of uncertain malignant potential? A histologically distinctive rhabdomyoblastic tumor in search of a place in the classification of skeletal muscle neoplasms. 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Mod Pathol. 2021;34:1434\u20138. https:\/\/doi.org\/10.1038\/s41379-021-00797-8.","journal-title":"Mod Pathol"},{"key":"1503_CR7","doi-asserted-by":"publisher","first-page":"100359","DOI":"10.1016\/j.modpat.2023.100359","volume":"37","author":"T Odate","year":"2024","unstructured":"Odate T, Satomi K, Kubo T, et al. Inflammatory rhabdomyoblastic tumor: Clinicopathologic and molecular analysis of 13 cases. Mod Pathol. 2024;37:100359. https:\/\/doi.org\/10.1016\/j.modpat.2023.100359.","journal-title":"Mod Pathol"},{"key":"1503_CR8","unstructured":"Tischler AS, Lam AK, Mete O et al. Pheochromocytoma. In: WHO Classification of Tumours Editorial Board. Endocrine and neuroendocrine tumours [Internet]. Lyon (France): International Agency for Research on Cancer. 2022. https:\/\/tumourclassification.iarc.who.int\/chapters\/53 (accessed 22 February 2023)."},{"key":"1503_CR9","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/s00403-010-1090-z","volume":"303","author":"L Zinnamosca","year":"2011","unstructured":"Zinnamosca L, Petramala L, Cotesta D, et al. Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects. Arch Dermatol Res. 2011;303:317\u201325. https:\/\/doi.org\/10.1007\/s00403-010-1090-z.","journal-title":"Arch Dermatol Res"},{"key":"1503_CR10","doi-asserted-by":"publisher","first-page":"2784","DOI":"10.1210\/jc.2006-2833","volume":"92","author":"B Bausch","year":"2007","unstructured":"Bausch B, Borozdin W, Mautner VF, et al. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. 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Mod Pathol. 2021;34:1035\u20136. https:\/\/doi.org\/10.1038\/s41379-021-00791-0.","journal-title":"Mod Pathol"}],"container-title":["Diagnostic Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13000-024-01503-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13000-024-01503-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13000-024-01503-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T01:03:44Z","timestamp":1718067824000},"score":1,"resource":{"primary":{"URL":"https:\/\/diagnosticpathology.biomedcentral.com\/articles\/10.1186\/s13000-024-01503-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,11]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["1503"],"URL":"https:\/\/doi.org\/10.1186\/s13000-024-01503-3","relation":{},"ISSN":["1746-1596"],"issn-type":[{"value":"1746-1596","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,11]]},"assertion":[{"value":"25 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 June 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient provided a written informed consent to report this case. No institutional permission was required according to the institutional guidelines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics statement and consent for publication"}},{"value":"Doctors Otto Jokelainen, Heidi Myllykangas, Katri Rajala, Jarkko Marttila and Reijo Sironen declare that they have no affiliations with or involvement in any organization or entity with any financial or non-financial interest in the subject matter or materials discussed in this manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"78"}}