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Pathology and Molecular Diagnostics in the Personalized Treatment of Lung...
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Pathology and Molecular Diagnostics in the Personalized Treatment of Lung Diseases

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: 20 March 2025 | Viewed by 823

Special Issue Editor

Dr. Andrea Ambrosini-Spaltro

E-Mail Website
Guest Editor
Pathology Unit, Morgani-Pierantoni Hospital, AUSL Romagna, Via Carlo Forlanini 34, 47121 Forlì, Italy
Interests: lung tumors; thoracic pathology; head and neck pathology; immunohistochemistry

Special Issue Information

Dear Colleagues,

As you well know, personalized medicine is a radical evolution in diagnostic, prognostic, and therapeutic approaches for patient management. Specific molecular profiles and phenotypes are linked to tailored diagnoses and therapies. The application of new technologies in better defining phenotypes and genotypes is often the scientific rationale to tailor both prevention and therapy in subsets of patients who effectively respond to specific treatments, permitting the rationalization of the economic resources of health systems.

The aim of this Special Issue of the JPM is to permit all researchers involved in the diagnosis and therapy of neoplastic as well as non-neoplastic diseases of the lung to share their experiences with diagnostic biomarkers and new predictive factors, and ultimately to determine more effective treatments.

Original and review articles on the use of novel technologies and the role of new biomarkers, observational studies on specific pathologies, as well as the better characterization of old and new pathological entities are all welcome to be submitted to this Special Issue.

We hope that this widely open Special Issue will attract several researchers to share their observations in the field of neoplastic as well as non-neoplastic diseases of the lung.

This Special Issue was originally conceived, planned, and structured by Dr. Giulio Rossi, who unfortunately passed away during its creation. As a collaborator, I would like to complete his project, honor his memory, and celebrate his scientific value, as well as his enthusiastic approach to pathology and research.

Dear Giulio, this Special Issue is dedicated to you.

Dr. Andrea Ambrosini-Spaltro
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • lung
  • tumor
  • biomarkers
  • interstitial lung diseases
  • molecular
  • infections

Published Papers (1 paper)

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9 pages, 6842 KiB  
Case Report
Clinical and Molecular Traits of a Novel SPECC1L-ALK Fusion in a Patient with Advanced Non-Small Cell Lung Cancer
by Antonella Centonza, Tommaso Mazza, Domenico Trombetta, Angelo Sparaneo, Francesco Petrizzelli, Stefano Castellana, Flavia Centra, Federico Pio Fabrizio, Concetta Martina Di Micco, Federica Benso, Fabrizio Tabbò, Luisella Righi, Alessandra Merlini, Paolo Graziano and Lucia Anna Muscarella
J. Pers. Med. 2024, 14(7), 670; https://doi.org/10.3390/jpm14070670 - 21 Jun 2024
Viewed by 436
Abstract
Anaplastic lymphoma kinase (ALK) fusions account for 5–7% of non-small cell lung cancer (NSCLC) patients, the therapeutic approaches for which have significantly evolved in the last few years. However, the response to target therapies remains heterogeneous, partially due to the many different ALK [...] Read more.
Anaplastic lymphoma kinase (ALK) fusions account for 5–7% of non-small cell lung cancer (NSCLC) patients, the therapeutic approaches for which have significantly evolved in the last few years. However, the response to target therapies remains heterogeneous, partially due to the many different ALK fusion variants reported to date. Rare fusion variants have also been discovered, but their role in influencing responses to ALK inhibitors (ALKis) remains poorly elucidated. Laboratory investigation at both the tissue and protein levels, and a molecular profile by next-generation sequencing (NGS) were performed on a lung biopsy sample from one patient with poorly differentiated adenocarcinoma. An in silico prediction model using ColabFold software v1.5.5 was used to model and predict the entire structure of the chimeric aberrant ALK protein. Here, we report a case of a former smoker, a 60-year-old man, diagnosed with NSCLC and undergoing ALK translocation. He received first-, second- and third-generation ALK protein inhibitors (ALKis), showing a clinical benefit for about 4 years. IHC analysis and the molecular examination of the tissue biopsy indicated a positive staining for ALK and a novel ALK gene fusion variant, involving the sperm antigen with calponin homology and coiled-coil domain 1-like (SPECC1L) gene with an unreported breakpoint in exon 7. The novel SPECCL1::ALK fusion was identified using Anchored Multiplex PCR (AMP)-NGS technology and was predicted to retain the Pkinase_Tyr domain at the carboxy-terminal region of the resulting chimeric protein. To the best of our knowledge, this is the first case of an ALK-positive NSCLC patient carrying the SPECC1L exon 7 fusion breakpoint and one of the few reports about clinical outcomes related to SPECC1L::ALK fusion. The in silico hypothesized biological role of this newly identified fusion variant corroborates the observed clinical response to multiple ALKis. The molecular findings also reinforce the utility of AMP-based NGS technology as a valuable tool for the identification of rare chromosomal events that may be related to the variability of patient outcomes to different ALKis treatments. Full article
(This article belongs to the Special Issue Pathology and Molecular Diagnostics in the Personalized Treatment of Lung Diseases)
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