Search Results (3,617)

Background and Objectives: This study aimed to comparatively evaluate the association of commonly used comorbidity scores with survival, mortality, and recurrence in ovarian cancer patients aged 50 years and above. Materials and Methods: In this single-center, retrospective study, 130 female patients diagnosed between 2017 and 2024 who had received systemic therapy and had complete medical records were included. Comorbidity scores—including the Charlson Comorbidity Index (CCI), Cumulative Illness Rating Scale-Geriatric (CIRS-G), Adult Comorbidity Evaluation-27 (ACE-27), Elixhauser Comorbidity Index, Index of Coexistent Disease (ICED), and Functional Comorbidity Index (FCI)—were calculated for each patient. Survival analyses were conducted using the Kaplan–Meier method and Cox regression modeling. The prognostic accuracy of comorbidity scores was assessed via receiver operating characteristic (ROC) curve analysis. Results: Patients with higher CCI scores had significantly shorter survival, and CCI was identified as an independent prognostic factor in multivariate analysis. While other comorbidity scores were associated with overall survival in univariate analyses, they lost statistical significance in multivariate models. Patients with a higher comorbidity burden experienced more frequent disease recurrence and shorter time to recurrence. Conclusions: Comorbidity burden is a key clinical determinant of survival and disease trajectory in older patients with ovarian cancer. The CCI demonstrated the highest prognostic accuracy in this population and may serve as a valuable tool in individualized treatment planning. Integration of comorbidity-based assessments into standard decision-making processes is recommended in geriatric oncology practice. Full article

Background/Objectives: Breast cancer is the most common neoplasm among women and remains the leading cause of cancer-related mortality in the female population worldwide. Tumor cells exist within a highly oxidative microenvironment, which promotes the formation of substantial amounts of lipid peroxides. However, the clinical significance of circulating lipid peroxides in breast cancer is still not well understood. Methods: In this study, we quantified systemic lipid peroxide levels in plasma samples from 408 breast cancer patients and examined their associations with key clinicopathological parameters to evaluate their potential as disease biomarkers. Data are reported as relative light units (RLU). Results: Our findings revealed significantly higher lipid peroxide levels in HER2-amplified tumors compared with estrogen-receptor-positive tumors (1,133,494 ± 102,409 RLU vs. 951,883 ± 47,535 RLU; p = 0.0438). Elevated levels were also observed in patients with triple-negative breast cancer relative to those with Luminal A (1,163,323 ± 109,640 RLU vs. 875,633 ± 49,601 RLU; p = 0.0356) and Luminal B tumors (1,163,323 ± 109,640 RLU vs. 1,071,779 ± 98,329 RLU; p = 0.0254). In addition, increased lipid peroxidation was detected in patients with high-grade tumors (G3: 1,141,035 ± 101,045 RLU vs. G1–G2: 949,658 ± 46,119 RLU; p = 0.0346) and in those classified as at high risk of recurrence or death compared with low-risk patients (1,209,530 ± 95,396 RLU vs. 978,318 ± 229,526 RLU; p = 0.0054). Overweight patients also exhibited higher lipid peroxide levels than eutrophic individuals (1,131,233 ± 59,633 RLU vs. 820,772 ± 57,653 RLU; p = 0.0142). Conclusions: Collectively, these results suggest that circulating lipid peroxides may serve as potential biomarkers for recurrence and death risk in breast cancer, particularly among patients with more aggressive tumor phenotypes. Full article

Background: Intentional occlusion of the internal iliac artery (IIA) during endovascular repair of aorto-iliac aneurysms may predispose patients to pelvic ischemic complications such as gluteal claudication, erectile dysfunction, and bowel ischemia. Iliac branch devices (IBDs) have been developed to preserve hypogastric perfusion. E-Liac (Artivion/Jotec) is one of the latest modular IBDs yet reports on mid-term performance are limited to small single-center cohorts with short follow-up. The CAMpania PugliA bRanch IliaC (CAMPARI) study is a multicenter investigation of E-Liac outcomes. Methods: A retrospective observational cohort study was conducted across five Italian vascular centers. All consecutive patients undergoing E-Liac implantation for aorto-iliac or isolated iliac aneurysms between January 2015 and December 2024 were identified from prospectively maintained registries. Inclusion criteria comprised elective or urgent endovascular repair of aorto-iliac aneurysms in which an adequate distal sealing zone was not available without covering the IIA and suitability for the E-Liac device according to its instructions for use (IFU). Patients with a life expectancy < 1 year or hostile anatomy incompatible with the IFU were excluded. The primary end point was freedom from branch instability (occlusion/stenosis, kinking, or detachment of the bridging stent). Secondary end points included freedom from any endoleak, freedom from device-related reintervention, freedom from gluteal claudication, aneurysm-related and all-cause mortality, acute renal failure, and sac regression > 5 mm. Results: A total of 69 consecutive patients (68 male, 1 female, median age 72.0 years) received 74 E-Liac devices, including 5 bilateral implantations. The mean infrarenal aortic diameter was 45 mm and the mean CIA diameter 34 mm; 14 patients (20.0%) had a concomitant IIA aneurysm (>20 mm). Concomitant fenestrated or branched aortic repair was performed in 23% of procedures. Two patients received a standalone IBD without implantation of a proximal aortic endograft. Technical success was achieved in 71/74 cases (96.0%); three failures occurred due to inability to catheterize the IIA. Distal landing was in the main IIA trunk in 58 cases and in the posterior branch in 13 cases. Over a median follow-up of 18 (6; 36) months, there were four branch instability events (5.4%): three occlusions and one bridging stent detachment. Seven patients (9.5%) developed endoleaks (one type Ib, two type II, two type IIIa, and two type IIIc). Five patients (6.8%) required reintervention, and five (6.8%) reported gluteal claudication. There were seven all-cause deaths (10%), none within 30 days or related to aneurysm rupture; causes included COVID-19 pneumonia, acute coronary syndrome, melanoma, gastric cancer, and stroke. No acute renal or respiratory failure occurred. Kaplan–Meier analysis showed 92% (95% CI 77–100) freedom from branch instability in the main-trunk group and 89% (60–100) in the posterior-branch group (log-rank p = 0.69). Freedom from any endoleak at 48 months was 87% (95% CI 75–95), and freedom from reintervention was 93% (95% CI 83–98). Conclusions: In this multicenter cohort, the E-Liac branched endograft demonstrated high technical success and favorable early–mid-term outcomes. Preservation of hypogastric perfusion using E-Liac was associated with low rates of branch instability, endoleak, and reintervention, with no 30-day mortality or aneurysm-related deaths. These findings support the safety and efficacy of E-Liac for aorto-iliac aneurysm management, although larger prospective studies with longer follow-up are needed. Full article

Background and Objectives: Immune checkpoint inhibitors (ICIs) have transformed cancer care, but their impact on cognition is unclear. This study examined the prevalence and clinical correlates of cognitive impairment in patients receiving ICIs. Materials and Methods: In this two-center, cross-sectional cohort of 189 adults with solid tumors treated with ICIs, cognitive function was assessed using the Montreal Cognitive Assessment (MoCA). Cognitive impairment was defined as MoCA ≤ 21. Age, sex, education, Eastern Cooperative Oncology Group (ECOG) performance status, treatment line, number of metastatic sites, and ICI exposure were compared between cognitive groups using chi-square tests. Univariate and multivariate logistic regression models were used to identify independent predictors of cognitive impairment. Results: The median age was 65 years and 73% of patients were male. Overall, 102 of 189 participants (54%) met criteria for cognitive impairment. Patients with impaired cognition were more often aged ≥65 years, female, and educated at or below high school level, and more frequently had ECOG ≥ 1, second- or later-line ICI therapy, and ≥2 metastatic sites (all p < 0.05). In multivariate analysis, independent predictors of cognitive impairment were age ≥ 65 years (OR: 2.98, 95% CI 1.45–6.12, p = 0.003), female sex (OR: 2.48, 1.09–5.67, p = 0.030), lower education (OR: 3.10, 1.35–7.07, p = 0.007), later-line therapy (OR: 3.51, 1.56–7.88, p = 0.002), ECOG ≥ 1 (OR: 3.38, 1.46–7.83, p = 0.004), and ≥2 metastatic sites (OR: 2.85, 1.37–5.90, p = 0.005). Conclusions: More than half of patients receiving ICIs exhibit objective cognitive deficits. Systematic cognitive screening in high-risk subgroups may allow for earlier recognition of impairment and more timely supportive care. Full article

Background: Acute kidney injury (AKI) is a frequent and clinically relevant complication in cancer patients, with highly variable incidence. AKI increases morbidity and mortality, prolongs hospitalization, and may limit access to oncologic therapies. This study evaluated the incidence, risk factors, and outcomes of AKI in hospitalized cancer patients. Methods: We retrospectively analyzed patients admitted between 1 January 2016 and 31 December 2019. Individuals with cancer were identified and categorized into three groups: hematologic malignancies, solid cancers with metastases, and solid cancers without metastases. Demographic, clinical, and laboratory data were collected, and AKI was defined and staged according to KDIGO criteria, evaluating serum creatinine changes. Results: Among 56,390 hospitalized patients, 6723 (11.9%) had a cancer diagnosis. AKI incidence was significantly higher in cancer versus non-cancer patients (30.1% vs. 19.6%). Hematologic cancers showed the highest incidence (39.3%). Among hematologic patients, ICU admission, sepsis, and diabetes were strongly associated with AKI. In non-metastatic solid cancers, more conventional factors—including female sex, older age, sepsis, and ICU admission—were significant predictors. In contrast, in metastatic solid cancers, traditional AKI risk factors did not correlate with increased AKI occurrence. In cancer patients overall, AKI per se did not increase mortality risk; however, stage 3 AKI was associated with significantly higher mortality (HR 1.37, 95% CI 1.13–1.66, p < 0.001). Conclusions: AKI is common in hospitalized cancer patients, with specific patterns and heterogeneous risk factors and impact on outcomes. Implementation of tailored preventive strategies and early recognition are necessary to mitigate progression and improve clinical trajectories. Full article

Pseudouridine (Ψ), the most abundant RNA modification, plays essential roles in shaping RNA structure, stability, and translational output. Beyond cancer, Ψ is dynamically regulated across numerous physiological and pathological contexts—including immune activation, metabolic disorders, stress responses, and pregnancy-related conditions such as preeclampsia—where elevated Ψ levels reflect intensified RNA turnover and modification activity. These broad functional roles highlight pseudouridylation as a central regulator of cellular homeostasis. Emerging evidence demonstrates that Ψ dysregulation contributes directly to the development and progression of several women’s cancers, including breast, ovarian, endometrial, and cervical malignancies. Elevated Ψ levels in tissues, blood, and urine correlate with tumor burden, metastatic potential, and therapeutic responsiveness. Aberrant activity of Ψ synthases such as PUS1, PUS7, and the H/ACA ribonucleoprotein component dyskerin alters pseudouridylation patterns across multiple RNA substrates, including rRNA, tRNA, mRNA, snoRNAs, and ncRNAs. These widespread modifications reshape ribosome function, modify transcript stability and translational efficiency, reprogram RNA–protein interactions, and activate oncogenic signaling programs. Advances in high-resolution, site-specific Ψ mapping technologies have further revealed mechanistic links between pseudouridylation and malignant transformation, highlighting how modification of distinct RNA classes contributes to altered cellular identity and tumor progression. Collectively, Ψ and its modifying enzymes represent promising biomarkers and therapeutic targets across women’s cancers, while also serving as sensitive indicators of diverse non-cancer physiological and disease states. Full article

Invasive lobular carcinoma (ILC) accounts for approximately 15% of breast cancers and the most common neoplasm in the female population. Cervical involvement is exceptionally rare and often underrecognized. This relationship is well-defined in the context of breast and ovarian cancer syndrome related to BRCA gene mutations. However, it is also observed in rare but underreported cases of cervical metastases originating from breast cancer. The objective of this manuscript is to describe a rare case of cervical recurrence of invasive lobular carcinoma and summarize comparable case to guide future gynecologic follow-up strategies. Therefore, we report the case of a 60-year-old woman who developed a late cervical recurrence of ILC ten years after her initial breast cancer diagnosis. The patient had previously undergone mastectomy for ER-positive, PR-positive, HER2-negative ILC, followed by five years of adjuvant endocrine therapy. She remained disease-free until presenting with post-menopausal bleeding, urinary symptoms, and acute renal failure. Pelvic examination and ultrasonography revealed an enlarged, indurated cervix with bilateral hydroureteronephrosis. Biopsy demonstrated a discohesive infiltrate consistent with metastatic lobular carcinoma, confirmed by immunohistochemistry (GATA3+, CK7+, ER/PR+, E-cadherin−, CK20−, CDX2−). Staging PET-CT showed additional metastases involving bone, peritoneum, and lymph nodes. The patient began systemic therapy with ribociclib plus letrozole, achieving radiologic improvement of the cervical lesion and abdominal disease. After a follow-up of several months, she maintains stable disease but has persistent chronic renal impairment secondary to obstructive uropathy. This case highlights the ability of ILC to recur after long latency and to metastasize to unusual gynecologic sites such as the cervix. We also review the literature on cervical recurrence from lobular carcinoma to emphasize the importance of gynecologic surveillance in breast cancer survivors and to identify areas that require further investigation. Full article

Background: Canine mammary carcinoma (CMC) is the most common malignant tumour in female dogs and, due to its similarities, is a valuable comparative model for human breast cancer. Kinase inhibitors have revolutionised the treatment of human breast cancer; their use in veterinary oncology remains marginal. Aim: This review summarises the current knowledge of kinase signalling pathways in CMC and assesses which kinase inhibitors approved for human use have potential in veterinary medicine. Methods: A systematic search of the PubMed database from 1985 to 2025 was performed, focusing on kinase-targeted therapies in both human and canine mammary carcinomas. Data were categorised according to molecular target, clinical approval status, and available preclinical or clinical veterinary evidence. Results: Key molecular pathways targeted by kinase inhibitors are conserved across species, supporting translational opportunities. In vitro studies demonstrate that palbociclib, alpelisib, everolimus, and lapatinib inhibit growth and signalling in CMC cell lines. Clinical trials have not been conducted. Conclusions: Approved kinase inhibitors for human use have untapped therapeutic potential in veterinary oncology. Translational research, including xenograft and organoid models, followed by clinical trials in dogs, is required. Gaining this knowledge could lead to targeted treatment for dogs while advancing comparative understanding of mammary cancer biology across species. Full article

Background/Objectives: Despite initial sensitivity to ET, most patients with HR+/HER2− breast cancer develop resistance. A key molecular mechanism of endocrine resistance in HR+ breast cancer involves dysregulation of the cyclin D–CDK4/6–Rb signaling axis, which controls the transition from the G1 to S phase of the cell cycle. Introducing cyclin-dependent kinase 4 and 6 inhibitors (CDK4/6i) has changed therapeutic paradigms in HR+/HER2− breast cancer, as their synergistic use with endocrine therapy significantly prolongs progression-free survival (PFS) and effectively mitigates clinically relevant endocrine resistance in this patient population compared to ET alone. The aim of our study was to evaluate patients’ clinical characteristics, the clinical effectiveness of treatment, measured by progression-free survival (PFS), and the safety profile of combined ribociclib (CDK4/6i) and standard endocrine therapy (aromatase inhibitor) as a first-line treatment for patients with HR+/HER2− advanced or metastatic breast cancer at the Clinic of Oncology, University Clinical Centre Nis, Serbia. Methods: In this study, we present a retrospective prospective analysis of all patients with metastatic HR+/HER2− breast cancer treated with a combination of ribociclib and aromatase inhibitors in the first-line treatment of metastatic HR+/HER2− BC between June 2022 and January 2025, with a follow-up completed in October 2025. A total of 132 patients who met the criteria were included. Results: The median progression-free survival (PFS) in the entire group was 30 months, while the 12-, 24-, and 36-month PFS were 82.15%, 72.24%, and 28.75%, respectively. The overall response rate (ORR) was 41.7%, while the clinical benefit rate (CBR) was 89.3%. There was no statistically significant difference in PFS with respect to tumor grade (p = 0.54), Ki 67 level (<20% vs. >20%, p = 0.83), or the type of adjuvant endocrine therapy used (tamoxifen vs. AI) It is important to emphasize that female patients who had not previously received chemotherapy had a better response to ribociclib compared to those who had (33 m vs. 28 m, p = 0.05). Although a numerical difference in PFS was found in patients with bone-only metastases compared to those with metastases in other organs, the difference was not statistically significant (PFS 33 m vs. 30 m, p = 0.27;), and efficacy was consistent across menopausal status groups. The most common adverse effect was neutropenia, occurring in 89.4% of patients, 47.7% of whom presented with grade 3 or 4. As for hepatotoxicity, transaminase increase occurred in 25 patients (18.8%), 5 of whom (3.8%) were grade 3–4, and QTc interval prolongation occurred in 5.3% of patients. Conclusions: The results in terms of PFS and AEs are consistent with those of pivotal studies and real clinical practice data, but a direct comparison is not possible due to differences in patient populations. Ribociclib once again demonstrated efficacy in all patient subgroups and remains the gold standard, alongside ET, for first-line HR+/HER2-negative mBC. Full article

Background: This study investigates the global burden of early-onset bladder cancer (EOBC) from 1990 to 2021, highlighting regional disparities and the growing role of metabolic risk factors. Early-onset bladder cancer (EOBC), diagnosed before age 50, is an emerging global health concern. While less common than kidney cancer, EOBC contributes substantially to mortality and disability-adjusted life years (DALYs), with marked sex disparities. Its global epidemiology remains unassessed systematically. Methods: Using GBD 1990–2021 data, we analyzed EOBC incidence, prevalence, mortality, and DALYs across 204 countries in individuals aged 15–49. Trends were examined via segmented regression, EAPC, and Bayesian age-period-cohort modeling. Inequality was quantified using SII and CI. Decomposition and SDI-efficiency frontier analyses were introduced. Results: From 1990 to 2021, EOBC incidence rose 62.2%, prevalence 73.1%, deaths 15.3%, and DALYs 15.8%. Middle-SDI regions bore the highest burden. Aging drove trends in high-SDI areas and population growth in low-SDI regions. Over 25% of high-SDI countries underperformed in incidence/prevalence control. Smoking remained the leading risk factor, with rising hyperglycemia burdens in high-income areas. Males carried over twice the female burden, peaking at age 45–49. Conclusions: EOBC shows sustained global growth with middle-aged concentration and significant regional disparities. Structural inefficiencies highlight the need for enhanced screening, early warning, and tailored resource allocation. Full article

Urinary bladder neoplasms are clinically relevant in dogs and cats and are also common in humans, all of which may share exposure to environmental factors that influence disease risk. In Veterinary Medicine, however, their etiological determinants remain poorly defined. Urinary bladder neoplasia range from non-invasive lesions limited to the mucosa to invasive forms that infiltrate the muscular layer, which are more aggressive and metastatic. In dogs, invasive urothelial carcinoma (UC) represents the most frequently diagnosed type, while in cats, it is less common but displays similar biological behavior. Hematuria and dysuria are the predominant clinical signs, and although urinary bladder cancer accounts for only a small proportion of canine neoplasms, it is associated with considerable morbidity and mortality. Several risk factors have been identified, including breed, sex, age, obesity, diet, neuter status, and environmental exposures. Female dogs, especially Terrier breeds, are more susceptible, whereas in cats, males and short-haired animals are more often affected. Contact with insecticides, herbicides, and antiparasitic products is a recognized risk factor in dogs, although this association has not been consistently demonstrated in cats. Neutering and obesity appear to increase risk in dogs, and dietary patterns may offer protection, with regular vegetable consumption linked to a reduced incidence. Understanding these determinants is essential to improve early detection, guide preventive measures, and strengthen comparative oncology research. Full article

Biomarkers such as CEACAM-5, CA125 and HE4 have been implicated in tumor progression, invasion, and microenvironment modulation in several cancers, but their protein expression in GEP-NET remains poorly characterized. This study aimed to evaluate CEACAM-5, CA125 and HE4 levels in tumors and matched surgical margin samples from 59 GEP-NET patients and assess correlations with clinical and demographic variables. Total protein concentration was measured spectrophotometrically, and selected cytokines by multiplex immunoassay. No significant differences in CEACAM-5, CA125 and HE4 protein concentrations were found between tumor and margin samples. However, in tumor tissue, CA125 protein levels showed a statistically significant association with T and M status. A significantly higher level of all proteins was observed in ileum or colon tumors compared to pancreas. Analysis of HE4 revealed differences in protein levels between male and female tumor samples. CEACAM-5, CA125 and HE4 proteins showed distinct expression patterns in GEP-NET according to tumor stage, metastasis, primary tumor location, and sex, highlighting their potential as tissue biomarkers of tumor aggressiveness and microenvironmental activity. These findings provide a basis for future studies on their prognostic and therapeutic relevance. Full article

Background/objectives: Metabolic abnormalities, independent of excess weight, may contribute to cancer risk even among individuals of normal weight, though their role remains unclear. This study sought to ascertain if metabolically unhealthy normal-weight (MUNW) individuals, generally characterized by a normal body mass index alongside the presence of metabolic abnormalities, have higher cancer risk than metabolically healthy peers, to analyze variations in risk across obesity-related cancer types, and to examine which single specific metabolic components can predict cancer independently in normal-weight individuals. Methods: Two authors systematically searched the PubMed, EMBASE, and Web of Science databases for longitudinal studies, published from inception to July 2025, that included normal-weight adults, classified participants by metabolic health status, and reported incident cancer outcomes in metabolically unhealthy versus healthy normal-weight groups. Hazard ratio (HR) estimates were extracted from each study and were pooled using random-effects inverse-variance model with empirical Bayes variance estimator. Results: Thirty-five studies involving 18,210,858 participants (56.0% females, mean age = 53.8 years) were included. A total of 280,828 new cancer cases were diagnosed during follow-up (mean = 10.6 years). In comparison with metabolically healthy normal-weight individuals, MUNW individuals had a 20% higher risk of cancer (HR = 1.20, 95% confidence interval [CI]: 1.13–1.28). Increased risks were observed for gastric cancer (HR = 1.40, 95% CI: 1.04–1.87), pancreatic cancer (HR = 1.37, 95% CI: 1.21–1.54), and colorectal cancer (HR = 1.34, 95% CI: 1.14–1.57), which were the cancer types showing statistically significant associations in subgroup analyses. Normal-weight participants presenting specific metabolic factors like central adiposity or glucose metabolism abnormalities had a 20% (HR = 1.20, 95% CI: 1.13–1.37) and 23% (HR = 1.23, 95% CI: 1.06–1.41) increased cancer risk, respectively. Conclusions: MUNW individuals are at higher risk of cancer, with specific metabolic abnormalities, particularly central adiposity and impaired glucose regulation, emerging as the factors most strongly associated with increased risk in normal-weight individuals. Routine metabolic screening and detailed phenotyping are crucial to identify these risks. Full article

Background and Clinical significance: Cowden syndrome is an autosomal dominant disorder caused by germline loss-of-function mutations in the PTEN tumor suppressor gene. It is characterized by multiple hamartomas and an increased lifetime risk of malignancies affecting the breast, thyroid, endometrium, and gastrointestinal (GI) tract. Pediatric presentations may include macrocephaly, scrotal tongue, and intellectual disability. Gastrointestinal involvement is frequent, with juvenile-like hamartomatous polyps occurring in at least half of patients and distributed throughout the GI tract, posing a risk for malignant transformation. Early diagnosis and surveillance are crucial for improving patient outcomes. Case Presentation: We report a case of a 10-year-old Caucasian female with Cowden syndrome, with a history of a malignant germ cell tumor of the ovary consisting of a yolk sac tumor and low-grade immature teratoma diagnosed at age six, and thyroidectomy at age nine. The patient has mild intellectual disability. Routine radiological surveillance revealed a right colon intraluminal mass, prompting referral for pediatric gastroenterology evaluation. Endoscopy identified multiple polyps throughout the colon, stomach, and small intestine. Polypectomy of larger lesions was performed, and histopathology confirmed juvenile-like hamartomatous polyps without dysplasia or malignancy. This case highlights the necessity of comprehensive gastrointestinal evaluation in pediatric Cowden syndrome patients. Endoscopic surveillance is essential for early detection and management of polyps. Conclusions: Given the multisystem involvement and elevated cancer risk associated with PTEN mutations, a multidisciplinary approach that includes genetic counseling, dermatologic evaluation, and ongoing oncologic monitoring is recommended. Increased awareness of gastrointestinal manifestations enables timely intervention and may reduce morbidity and mortality in this high-risk population. Full article

Autosomal recessive familial partial lipodystrophy type 5 (FPLD5) due to a homozygous NP_001186481.1; p.E186* CIDEC variant has previously been reported in a 19-year-old female with diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Now, we report an 18-year-old Hispanic female who presented with FPL, along with hirsutism, acanthosis nigricans, and marked insulin resistance, and was found to have an extremely rare homozygous variant in CIDEC (NM_001199623.2:c.224G>T; NP_001186552.1; p.Ser75Ile) by whole exome sequencing. She also harbored a novel homozygous variant in WRN (NM_000553.4:c.1856T>G; NP_000544; p.Leu619Arg). Both serine 75 of the CIDEC protein and leucine 619 of the WRN protein were well conserved across species. She developed an invasive papillary thyroid carcinoma at the age of 17 years. Our report confirms the previously reported association of the biallelic CIDEC variant with the FPL phenotype and also highlights the extremely rare possibility of co-occurrence of FPLD5 with thyroid cancer, a clinical feature of Werner syndrome. Thus, our patient may not only need surveillance for the metabolic complications of FPLD5, such as diabetes, hypertriglyceridemia, and hepatic steatosis, but also for WRN-associated neoplasms and features of premature aging. Full article