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Larque, Ana BCorresponding AuthorFrigola, GerardAuthorCastrejon, NataliaAuthorDiaz-Mercedes, SherleyAuthorM Lacy AAuthorBalaguer, FrancescAuthorCuatrecasas, MiriamAuthor

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Perivascular epithelioid cell gene rearrangements in a patient with Lynch syndrome

Publicated to:Gastroenterologia Y Hepatologia. 48 (2): 502217- - 2025-02-01 48(2), DOI: 10.1016/j.gastrohep.2024.502217

Authors: Larque, Ana B; Frigola, Gerard; Castrejon, Natalia; Diaz-Mercedes, Sherley; Palet, Eva Musulen; Ciarpaglini, Carolina Martinez; Landolfi, Stefania; Lacy, Antonio M; Balaguer, Francesc; Cuatrecasas, Miriam

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Abstract

A 38-year-old male with a history of Lynch syndrome was diagnosed with a rectal mucinous adenocarcinoma 6 years earlier. In the follow-up a pelvic nodule radiologically suggestive of a lymph node recurrence was found, and was surgically removed. Histopathological studies were suggestive of PEComa. Immunohistochemical studies showed diffuse positivity for HMB45 and TFE3, with scattered cells expressing MELAN A and actin. TFE3 gene rearrangement was confirmed with fluorescence in situ hybridization. Intact nuclear expression was observed for MLH1, MSH2, MSH6 and PMS2, and genetic studies confirmed microsatellite stability, arguing against a relation with Lynch syndrome. After 29 months, the patient remains alive with no evidence of recurrence of either the adenocarcinoma or the PEComa. Although some sarcomas have been described in Lynch syndrome families, cumulative evidence suggests that Lynch syndrome patients might also develop non-Lynch syndrome tumors. To the best of our knowledge, this is the first report of a PEComa in a patient with Lynch syndrome. TFE3-rearranged PEComas are a recently described variant defined by the translocation of TFE3, the features of which are poorly defined. This tumor adds to the list of sporadic non-Lynch syndrome-related tumors, and to the data of TFE3 rearrangement-associated PEComas.

Keywords

Lynch syndromePecomaTfe3

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Gastroenterologia Y Hepatologia, and although the journal is classified in the quartile Q3 (Agencia WoS (JCR)), its regional focus and specialization in Gastroenterology & Hepatology, give it significant recognition in a specific niche of scientific knowledge at an international level.

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-07:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 3.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 3 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 1.25.
  • The number of mentions on the social network X (formerly Twitter): 2 (Altmetric).

Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Larqué Daza, Ana Belén) and Last Author (Cuatrecasas Freixas, Miriam).

the author responsible for correspondence tasks has been Larqué Daza, Ana Belén.