Int J Mol Sci. 2022 Apr 11;23(8):4217. doi: 10.3390/ijms23084217.

ABSTRACT

Rare Diseases (RD) are defined by their prevalence in less than 5 in 10,000 of the general population. Considered individually, each RD may seem insignificant, but together they add up to more than 7000 different diseases. Research in RD is not attractive for pharmaceutical companies since it is unlikely to recover development costs for medicines aimed to small numbers of patients. Since most of these diseases are life threatening, this fact underscores the urgent need for treatments. Drug repurposing consists of identifying new uses for approved drugs outside the scope of the original medical indication. It is an alternative option in drug development and represents a viable and risk-managed strategy to develop for RDs. In 2008, the "off label" therapeutic benefits of propranolol were described in the benign tumor Infantile Hemangioma. Propranolol, initially prescribed for high blood pressure, irregular heart rate, essential tremor, and anxiety, has, in the last decade, shown increasing evidence of its antiangiogenic, pro-apoptotic, vasoconstrictor and anti-inflammatory properties in different RDs, including vascular or oncological pathologies. This review highlights the finished and ongoing trials in which propranolol has arisen as a good repurposing drug for improving the health condition in RDs.

PMID:35457036 | PMC:PMC9025921 | DOI:10.3390/ijms23084217

Int J Mol Sci. 2022 Apr 10;23(8):4173. doi: 10.3390/ijms23084173.

ABSTRACT

Metabolomic analysis has proven to be a useful tool in biomarker discovery and the molecular classification of cancers. In order to find new biomarkers, and to better understand its pathological behavior, bladder cancer also has been studied using a metabolomics approach. In this article, we review the literature on metabolomic studies of bladder cancer, focusing on the different available samples (urine, blood, tissue samples) used to perform the studies and their relative findings. Moreover, the multi-omic approach in bladder cancer research has found novel insights into its metabolic behavior, providing excellent start-points for new diagnostic and therapeutic strategies. Metabolomics data analysis can lead to the discovery of a "signature pathway" associated with the progression of bladder cancer; this aspect could be potentially valuable in predictions of clinical outcomes and the introduction of new treatments. However, further studies are needed to give stronger evidence and to make these tools feasible for use in clinical practice.

PMID:35456991 | PMC:PMC9030452 | DOI:10.3390/ijms23084173

J Clin Med. 2022 Apr 13;11(8):2178. doi: 10.3390/jcm11082178.

ABSTRACT

Appropriate management of hereditary hemorrhagic telangiectasia (HHT) is of particular importance in females, as HHT-mediated modifications of the vascular bed and circulation are known to increase the risk of complications during pregnancy and delivery. This study was undertaken to evaluate female HHT patients' awareness of and experience with HHT during pregnancy and delivery, with a focus on epistaxis. In this retrospective study, 46 females (median age: 60 years) with confirmed HHT completed a 17-item questionnaire assessing knowledge of HHT and its pregnancy-associated complications, the severity of epistaxis during past pregnancies and deliveries, and the desire for better education and counselling regarding HHT and pregnancy. Results revealed that 85% of participants were unaware of their disease status prior to the completion of all pregnancies. Further, 91% reported no knowledge of increased pregnancy-related risk due to HHT. In regard to epistaxis, 61% of respondents reported experiencing nosebleeds during pregnancy. Finally, approximately a third of respondents suggested that receiving counseling on the risks of HHT in pregnancy could have been helpful. Findings suggest that awareness of HHT and its potential for increasing pregnancy-related risk is poor. Best practices in HHT management should be followed to minimize negative effects of the disorder.

PMID:35456271 | DOI:10.3390/jcm11082178

Healthcare (Basel). 2022 Apr 11;10(4):708. doi: 10.3390/healthcare10040708.

ABSTRACT

Mixed neuroendocrine non-neuroendocrine neoplasms (MiNENs) refer to heterogenous rare neoplasms constituted of at least a neuroendocrine population-either well-differentiated, or more frequently poorly differentiated-and a non-neuroendocrine population, both accounting for at least 30% of the whole tumor mass. Several studies recently focused on the key genetic and epigenetic changes underlying MiNENs to better understand how they develop, and explore biological similarities among the two components and their pure counterparts. However, their molecular landscape still remains poorly understood. NGS may represent a useful tool to study this orphan disease by detecting the main genetic alterations and possible therapeutic targets. NGS analysis on tissue and/or blood samples through the Foundation One (F1) platform was performed on consecutive samples collected from four patients diagnosed with MiNENs of the gastroenteric tract. Several genetic alterations were shared among samples from the same patients, thus suggesting a common origin between them, although morphology sometimes changed at histopathological evaluation. Common molecular alterations among samples from different patients that had not been previously described to our knowledge were also detected. Finally, it is of the utmost importance to clarify if the maintenance of the 30% cut-off is still essential in defining MiNENs and really manages to include all of the mixed neoplasms.

PMID:35455885 | DOI:10.3390/healthcare10040708

Br J Clin Pharmacol. 2022 Jun;88(6):2480-2483. doi: 10.1111/bcp.15350. Epub 2022 Apr 21.

NO ABSTRACT

PMID:35446442 | DOI:10.1111/bcp.15350

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):428-432. doi: 10.3760/cma.j.cn511374-20201113-00797.

ABSTRACT

OBJECTIVE: To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.

METHODS: Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics.

RESULTS: The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing.

CONCLUSION: The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.

PMID:35446982 | DOI:10.3760/cma.j.cn511374-20201113-00797

Orphanet J Rare Dis. 2022 Apr 20;17(1):171. doi: 10.1186/s13023-022-02321-w.

ABSTRACT

BACKGROUND: Improving care coordination is particularly important for individuals with rare conditions (who may experience multiple inputs into their care, across different providers and settings). To develop and evaluate strategies to potentially improve care coordination, it is necessary to develop a method for organising different ways of coordinating care for rare conditions. Developing a taxonomy would help to describe different ways of coordinating care and in turn facilitate development and evaluation of pre-existing and new models of care coordination for rare conditions. To the authors' knowledge, no studies have previously developed taxonomies of care coordination for rare conditions. This research aimed to develop and refine a care coordination taxonomy for people with rare conditions.

METHODS: This study had a qualitative design and was conducted in the United Kingdom. To develop a taxonomy, six stages of taxonomy development were followed. We conducted interviews (n = 30 health care professionals/charity representatives/commissioners) and focus groups (n = 4 focus groups, 22 patients/carers with rare/ultra-rare/undiagnosed conditions). Interviews and focus groups were audio-recorded with consent, and professionally transcribed. Findings were analysed using thematic analysis. Themes were used to develop a taxonomy, and to identify which types of coordination may work best in which situations. To refine the taxonomy, we conducted two workshops (n = 12 patients and carers group; n = 15 professional stakeholder group).

RESULTS: Our taxonomy has six domains, each with different options. The six domains are: (1) Ways of organising care (local, hybrid, national), (2) Ways of organising those involved in care (collaboration between many or all individuals, collaboration between some individuals, a lack of collaborative approach), (3) Responsibility for coordination (administrative support, formal roles and responsibilities, supportive roles and no responsibility), (4) How often appointments and coordination take place (regular, on demand, hybrid), (5) Access to records (full or filtered access), and (6) Mode of care coordination (face-to-face, digital, telephone).

CONCLUSIONS: Findings indicate that there are different ways of coordinating care across the six domains outlined in our taxonomy. This may help to facilitate the development and evaluation of existing and new models of care coordination for people living with rare conditions.

PMID:35443702 | DOI:10.1186/s13023-022-02321-w

Crit Care Med. 2022 Apr 21. doi: 10.1097/CCM.0000000000005563. Online ahead of print.

ABSTRACT

OBJECTIVES: Acute liver failure (ALF) is an orphan disease often complicated by acute kidney injury (AKI). We assessed the impact of transient versus persistent AKI on survival in patients with ALF.

DESIGN: International multicenter retrospective cohort.

SETTING: U.S. ALF Study Group prospective registry.

PATIENTS: Patients with greater than or equal to 18 years and ALF in the registry from 1998 to 2016 were included. Patients with less than 3 days of follow-up, without kidney function evaluation on day 3, or with cirrhosis were excluded.

INTERVENTIONS: AKI was defined by Kidney Disease Improving Global Outcomes guidelines on day 1. Kidney recovery was defined on day 3 as transient AKI, by a return to no-AKI within 48 hours or persistent AKI if no such recovery or renal replacement therapy (RRT) was observed. Primary outcome was transplant-free survival (TFS) at 21 days.

MEASUREMENTS AND MAIN RESULTS: Among 1,071 patients with ALF, 339 (31.7%) were males, and median (interquartile range) age was 39 years (29-51 yr). Acetaminophen-related ALF was found in 497 patients (46.4%). On day 1, 485 of 1,071 patients (45.3%) had grade 3-4 hepatic encephalopathy (HE), 500 of 1,070 (46.7%) required invasive mechanical ventilation (IMV), 197 of 1,070 (18.4%) were on vasopressors, and 221 of 1,071 (20.6%) received RRT. On day 1, 673 of 1,071 patients (62.8%) had AKI. On day 3, 72 of 1,071 patients (6.7%) had transient AKI, 601 of 1,071 (56.1%) had persistent AKI, 71 of 1,071 (6.6%) had late onset AKI, and 327 of 1,071 (30.5%) remained without AKI. Following adjustment for confounders (age, sex, race, etiology, HE grade, use of IMV and vasopressors, international normalized ratio, and year), although persistent acute kidney injury (adjusted odds ratio [aOR] [95% CI] 0.62 [0.44-0.88]) or late onset AKI (aOR [95% CI] 0.48 [0.26-0.89]) was associated with lower TFS, transient AKI was not (aOR [95% CI] 1.89 [0.99-3.64]).

CONCLUSIONS: In a multicenter cohort of patients with ALF, persistent but not transient AKI was independently associated with lower short-term TFS.

PMID:35446272 | DOI:10.1097/CCM.0000000000005563

Ren Fail. 2022 Dec;44(1):688-692. doi: 10.1080/0886022X.2022.2064303.

ABSTRACT

INTRODUCTION: Retroperitoneal fibrosis (RPF) is a rare disease associated with the formation of hard inflammatory and fibrous tissue in the retroperitoneum. Taking into consideration the fact that RPF is a rare disease with different subtypes, we compared the basal clinical and biochemical characteristics of the vascular and urorenal subtypes.

PATIENTS AND METHODS: From January 2005 until December 2021, 27 patients were identified as vascular subtype (18 males) and 11 as urorenal subtype (9 males).

RESULTS: Patients with a primary urorenal origin had significantly worse kidney function as reflected by serum creatinine and eGFR (both p < 0.001); they also had higher serum cholesterol (p < 0.01). Hypertension, diabetes, hyperlipidemia and nicotinism were significantly more prevalent in vascular subtype (all p < 0.001).

CONCLUSION: Vascular subtype is more prevalent in our study with more cardiovascular risk factor present. Due to the diversity of symptoms, diagnosis of RPF becomes a challenge for specialists as well as therapy.

PMID:35440292 | DOI:10.1080/0886022X.2022.2064303

Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med. 2022 Mar;30(2):207-210. doi: 10.32687/0869-866X-2022-30-2-207-210.

ABSTRACT

Lately, in case of a number of life-threatening and chronic progressive rare (orphan) diseases, resulting in decreasing of life expectancy of citizens or their disability, the powers to support patients with medications were transferred from regional to federal level. Among these diseases are hemolytic uremic syndrome, mucopolysaccharidose type I, II, VI, juvenile arthritis with systemic onset, unspecified aplastic anemia, hereditary deficiency of factors II (fibrinogen), VII (labile), X (Stuart-Prauer). The article considers data concerning hemolytic uremic syndrome, mucopolysaccharidosis type I, II, VI, juvenile arthritis with systemic onset - the diseases for which medication support provision was transferred to Federal level in the first place and for which at the time of preparation of the article there were sufficient data to analyze.

PMID:35439376 | DOI:10.32687/0869-866X-2022-30-2-207-210

Orphanet J Rare Dis. 2022 Apr 18;17(1):167. doi: 10.1186/s13023-022-02317-6.

ABSTRACT

BACKGROUND: The patient voice is becoming increasingly prominent across all stages of therapeutic innovation. It pervades research domains from funding and recruitment, to translation, care, and support. Advances in genomic technologies have facilitated novel breakthrough therapies, whose global developments, regulatory approvals, and confined governmental subsidisations have stimulated renewed hope amongst rare disease patient organisations (RDPOs). With intensifying optimism characterising the therapeutic landscape, researcher-advocate partnerships have reached an inflexion point, at which stakeholders may evaluate their achievements and formulate frameworks for future refinement.

MAIN TEXT: Through this narrative review, we surveyed relevant literature around the roles of RDPOs catering to the rare paediatric neurological disease community. Via available literature, we considered RDPO interactions within seven domains of therapeutic development: research grant funding, industry sponsorship, study recruitment, clinical care and support, patient-reported outcome measures, and research prioritisation. In doing so, we explored practical and ethical challenges, gaps in understanding, and future directions of inquiry. Current literature highlights the increasing significance of ethical and financial challenges to patient advocacy. Biomedical venture philanthropy is gaining momentum amongst RDPOs, whose small grants can incrementally assist laboratories in research, training, and pursuits of more substantial grants. However, RDPO seed funding may encounter long-term sustainability issues and difficulties in selecting appropriate research investments. Further challenges include advocate-industry collaborations, commercial biases, and unresolved controversies regarding orphan drug subsidisation. Beyond their financial interactions, RDPOs serve instrumental roles in project promotion, participant recruitment, biobank creation, and patient registry establishment. They are communication conduits between carers, patients, and other stakeholders, but their contributions may be susceptible to bias and unrealistic expectations.

CONCLUSION: Further insights into how RDPOs navigate practical and ethical challenges in therapeutic development may enhance cooperative efforts. They may also inform resources, whose distribution among advocates, parents, and clinicians, may assist decision-making processes around rare disease clinical trials and treatments.

PMID:35436886 | DOI:10.1186/s13023-022-02317-6

J Am Coll Surg. 2022 May 1;234(5):793-802. doi: 10.1097/XCS.0000000000000134.

ABSTRACT

BACKGROUND: This study aimed to assess the effect of neoadjuvant chemoradiation (nCXRT) on tumor regression and oncologic outcome of middle and low rectal cancer in patients of hereditary nonpolyposis colorectal cancer (HNPCC) compared to sporadic cases.

STUDY DESIGN: This was a retrospective cohort study that compared the outcomes of patients with HNPCC presenting with middle or low rectal cancer indicated for nCXRT vs patients with sporadic rectal cancer. All patients received long-course nCXRT followed by total mesorectal excision. Primary outcome was pathologic tumor regression grade (TRG) assessed after resection. Secondary outcomes included disease-free survival and overall survival.

RESULTS: Fifty-eight patients with HNPCC (24 female) were included in the study matched with 58 patients with sporadic rectal cancer (out of 166 using propensity score matching). Patients with HNPCC and sporadic rectal cancer were matched regarding tumor pathology TNM stage and lymphovascular invasion. In the HNPCC group, 36 patients (62%) had tumor regression (TRG3 = 6 (10.3%); TRG2 = 12 (20.6%); TRG1 = 18 (31%)) compared to 52 patients (92%) who had tumor regression in the control group (TRG4 = 9; TRG3 = 15; TRG2 = 18; TRG1 = 10) (p < 0.0007). After a median follow-up of 48 months, survival analysis revealed higher local recurrence and lower overall survival in patients with HNPCC compared to patients with sporadic rectal cancer.

CONCLUSIONS: Rectal cancer in patients with HNPCC showed poorer response to nCXRT and was followed by higher local recurrence and lower overall survival than patients with sporadic rectal cancer. Tumor regression was detected in <65% of patients with HNPCC compared to >90% of patients with sporadic rectal cancer, and none of patients with HNPCC had a complete response.

PMID:35426392 | DOI:10.1097/XCS.0000000000000134

Am J Bioeth. 2022 Apr;22(4):81-82. doi: 10.1080/15265161.2022.2044552.

NO ABSTRACT

PMID:35420512 | DOI:10.1080/15265161.2022.2044552

Orphanet J Rare Dis. 2022 Apr 12;17(1):163. doi: 10.1186/s13023-022-02299-5.

ABSTRACT

BACKGROUND: To provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the United States (U.S.) in 2019. We followed a prevalence-based approach that combined the prevalence of 379 RDs with the per-person direct medical and indirect costs, to derive the national economic burden by patient age and type of RD. To estimate the prevalence and the direct medical cost of RD, we used claims data from three sources: Medicare 5% Standard Analytical File, Transformed Medicaid Statistical Information System, and Optum claims data for the privately insured. To estimate indirect and non-medical cost components, we worked with the rare disease community to design and implement a primary survey.

RESULTS: There were an estimated 15.5 million U.S. children (N = 1,322,886) and adults (N = 14,222,299) with any of the 379 RDs in 2019 with a total economic burden of $997 billion, including a direct medical cost of $449 billion (45%), $437 billion (44%) in indirect costs, $73 billion in non-medical costs (7%), and $38 billion (4%) in healthcare costs not covered by insurance. The top drivers for excess medical costs associated with RD are hospital inpatient care and prescription medication; the top indirect cost categories are labor market productivity losses due to absenteeism, presenteeism, and early retirement.

CONCLUSIONS: Our findings highlight the scale of the RD economic burden and call for immediate attention from the scientific communities, policy leaders, and other key stakeholders such as health care providers and employers, to think innovatively and collectively, to identify new ways to help improve the care, management, and treatment of these often-devastating diseases.

PMID:35414039 | DOI:10.1186/s13023-022-02299-5

Orphanet J Rare Dis. 2022 Apr 12;17(1):166. doi: 10.1186/s13023-022-02312-x.

ABSTRACT

BACKGROUND: Several common conditions have been widely recognised as risk factors for COVID-19 related death, but risks borne by people with rare diseases are largely unknown. Therefore, we aim to estimate the difference of risk for people with rare diseases comparing to the unaffected.

METHOD: To estimate the correlation between rare diseases and COVID-19 related death, we performed a retrospective cohort study in Genomics England 100k Genomes participants, who tested positive for Sars-Cov-2 during the first wave (16-03-2020 until 31-July-2020) of COVID-19 pandemic in the UK (n = 283). COVID-19 related mortality rates were calculated in two groups: rare disease patients (n = 158) and unaffected relatives (n = 125). Fisher's exact test and logistic regression was used for univariable and multivariable analysis, respectively.

RESULTS: People with rare diseases had increased risk of COVID19-related deaths compared to the unaffected relatives (OR [95% CI] = 3.47 [1.21- 12.2]). Although, the effect was insignificant after adjusting for age and number of comorbidities (OR [95% CI] = 1.94 [0.65-5.80]). Neurology and neurodevelopmental diseases was significantly associated with COVID19-related death in both univariable (OR [95% CI] = 4.07 [1.61-10.38]) and multivariable analysis (OR [95% CI] = 4.22 [1.60-11.08]).

CONCLUSIONS: Our results showed that rare disease patients, especially ones affected by neurology and neurodevelopmental disorders, in the Genomics England cohort had increased risk of COVID-19 related death during the first wave of the pandemic in UK. The high risk is likely associated with rare diseases themselves, while we cannot rule out possible mediators due to the small sample size. We would like to raise the awareness that rare disease patients may face increased risk for COVID-19 related death. Proper considerations for rare disease patients should be taken when relevant policies (e.g., returning to workplace) are made.

PMID:35414031 | DOI:10.1186/s13023-022-02312-x

Dev Cell. 2022 Apr 11;57(7):837-838. doi: 10.1016/j.devcel.2022.03.016.

ABSTRACT

In this issue of Developmental Cell, Xu et al. (2022) describe a transgenic mouse mimicking neuroendocrine cell hyperplasia of infancy, a rare pediatric disease. The mice have excess lung fluid and increased pulmonary neuroendocrine cells with increased endothelium permeability. Acute respiratory distress syndrome is similar, so this rare disease may provide solutions for common diseases.

PMID:35413234 | DOI:10.1016/j.devcel.2022.03.016

Orphanet J Rare Dis. 2022 Apr 11;17(1):162. doi: 10.1186/s13023-022-02309-6.

ABSTRACT

BACKGROUND: Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways.

METHODS AND OBJECTIVES: This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology. Irish clinical specialists and patient/lived experience experts were asked to map existing practice against evidence-based clinical practice guidelines (CPGs) and best practice recommendations from the European Reference Networks (ERNs) to develop optimal care pathways. The study focused on the more prevalent, multisystemic rare conditions that require multidisciplinary care, services, supports and therapeutic interventions.

RESULTS: 29 rare conditions were selected across 18 ERNs, for care pathway development. Multidisciplinary input from multiple specialisms was relevant for all pathways. A high level of engagement was experienced from clinical leads and patient organisations. CPGs were identified for 26 of the conditions. Nurse specialist, Psychology, Medical Social Work and Database Manager roles were deemed essential for all care pathways. Access to the therapeutic Health Service Professionals: Physiotherapy, Occupational Therapy, and Speech and Language Therapy were seen as key requirements for holistic care. Genetic counselling was highlighted as a core discipline in 27 pathways demonstrating the importance of access to Clinical Genetics services for many people with RDs.

CONCLUSIONS: This study proposes a methodology for Irish RD care pathway development, in collaboration with patient/service user advocates. Common RD patient needs and health care professional interventions across all pathways were identified. Key RD stakeholders have endorsed this national care pathway initiative. Future research focused on the implementation of such care pathways is a priority.

PMID:35410222 | DOI:10.1186/s13023-022-02309-6

Int J Mol Sci. 2022 Apr 1;23(7):3946. doi: 10.3390/ijms23073946.

ABSTRACT

Rare diseases are those which affect a small number of people compared to the general population. However, many patients with a rare disease remain undiagnosed, and a large majority of rare diseases still have no form of viable treatment. Approximately 40% of rare diseases include neurologic and neurodevelopmental disorders. In order to understand the characteristics of rare neurological disorders and identify causative genes, various model organisms have been utilized extensively. In this review, the characteristics of model organisms, such as roundworms, fruit flies, and zebrafish, are examined, with an emphasis on zebrafish disease modeling in rare neurological disorders.

PMID:35409306 | DOI:10.3390/ijms23073946

Lakartidningen. 2022 Apr 8;119:21118.

ABSTRACT

Eosinophilic gastrointestinal disease is a rare condition of unknown cause with rising incidence in adults and characterized by chronic inflammation in the gastrointestinal tract with accumulation of eosinophils in the gastrointestinal wall, without other apparent cause (e.g., infections, IBD). There are three types of eosinophilic gastrointestinal disease, classified according to the location of the eosinophilic infiltration: eosinophilic esophagitis, eosinophilic gastroenteritis, and eosinophilic colitis. A combination of clinical suspicion, histologic evidence of eosinophilic infiltration, and exclusion of other causes of tissue eosinophilia leads to the diagnosis. Elimination diet, corticosteroid therapy, and steroid-sparing agents are currently used to treat eosinophilic gastrointestinal disease.

PMID:35403208

Transl Lung Cancer Res. 2022 Mar;11(3):472-496. doi: 10.21037/tlcr-21-880.

ABSTRACT

BACKGROUND AND OBJECTIVE: Translational research is a source of continuous innovation in medicine, more particularly for clinical research on new treatment modalities in idiopathic pulmonary fibrosis (IPF) patients. However, the heterogeneity of the disease is well recognized, and different pathological and molecular settings have been identified. The molecular mechanisms by which IPF proceeds in time and space remains poorly understood. Although some IPF features are reminiscent of cancer, the dynamics of malignant divergent clonal selective pressure and heterogeneity clearly differ from those occurring in IPF. This is reflected in the absence of patient proper selection and stratification to biological agents (pirfenidone, nintedanib) which limit therapeutic efficacy. Consequently, increased costs are related to the clinical management of advanced IPF patients. Steady collaboration and fluid communication between pneumo-oncologists, radiologists and molecular biologists is a clear priority for the correct interpretation of tests and the definition of effective personalized strategies against this orphan disease. The present work aims at providing the most relevant hints shared by cancer and IPF.

METHODS: A systematic literature review was performed to identify all relevant data. The examined databases were Scopus, Web of Science, Cochrane, Google Scholar, and PubMed. The last search was run on January 5, 2022. We have primarily conducted separated research for lung cancer, IPF, genetics, epigenetics, surgery in IPF and cancer.

KEY CONTENT AND FINDINGS: The data here presented mainly focus on gene mutations, epigenetics and novel therapeutic approaches. Moreover, epidemiology, prognostic variables and in new treatment strategies adopted in patients with IPF and lung cancer are discussed as well.

CONCLUSIONS: Overall, the findings of this narrative review will be of help in defining the key molecular features that could applied in IPF setting with promising rationale to improve therapy and to better manage those cases carrying IPF and cancer concomitantly.

PMID:35399571 | PMC:PMC8988078 | DOI:10.21037/tlcr-21-880