Lymphatic Research and Biology

Case management models (CMM) have proven effective in improving cancer patients’ transition from hospitals back into the community. However, whether a CMM has long-term effects in improving cancer patients’ health requires further investigation. Therefore, this study aimed to evaluate the short-term and long-term effects of a nurse-led CMM on upper limb function and the incidence of affected limb complications among postoperative breast cancer patients.

A non-concurrent, quasi-experimental design was used to compare upper limb function and the incidence of affected limb complications between two groups: a care as usual group (CAU; control group) and a CMM group (intervention group). This study was conducted in the largest department for breast cancer in south China, where women newly diagnosed with breast cancer (N = 157) were assigned to either the CMM group (n = 77, recruited from June to July 2017) or the CAU group (n = 80, recruited from June to July 2016). Data on limb function—including objective shoulder range of motion (ROM), muscle strength, and the subjective Functional Evaluation Scale of the Ipsilateral Shoulder and Arm Function (FESISA)—were collected at baseline (upon admission), and at 3, 6, and 12 months after surgery. Additionally, the incidence of limb pain, paresthesia, and lymphedema was measured at 3, 6, and 12 months postoperatively. The results showed that affected limb function decreased for more than one year, and the incidence of upper limb complications in both groups declined over time, except for lymphedema in the CAU group. Furthermore, patients in the CMM group demonstrated significantly better limb function and a lower incidence of limb complications compared to those in the CAU group.

The nurse-led CMM is a feasible and effective approach to improve the short-term and long-term quality of care and patient outcomes among patients with breast cancer.

Vascular anomalies are a group of common endothelial disorders that manifest a wide range of overlapping phenotypes, which complicate diagnosis. Next-generation sequencing (NGS) has led to the ability to detect low-frequency somatic variants, which may aid in the correct diagnosis and treatment of patients. Our goal was to identify the pathogenic variants in affected tissue taken from a cohort of 58 unrelated patients with various clinically diagnosed vascular anomalies.

DNA was extracted from fresh/frozen affected tissue samples and evaluated using a custom 735 vascular anomaly/cancer gene NGS panel down to 1% somatic mosaicism.

Pathogenic or likely pathogenic variants were identified in 47% (27/58) of vascular anomaly tissue biopsies, including 61.5% (16/26) of lymphatic malformation (LM), 15% (3/20) of hemangioma (congenital and infantile), and 67% (8/12) of other various vascular anomalies. Two novel variants, PIK3CA c.3205_3206insTTTT (p.*1069Pheext*4) and PIK3R1 c.1384_1395del (p.Glu462_Arg465del), were identified in LM tissue. In addition, we report a likely pathogenic variant GNA14 c.512C>T (p.Thr171Ile) identified in a GLUT-1 positive infantile hemangioma lesion. The majority (52%) of the negative results were in infantile hemangioma tissue, for which a genetic cause has not yet been established.

The 735 gene vascular anomaly/cancer NGS panel is an effective way to detect low levels of somatic mosaicism in these lesions. Given the challenge that many vascular anomalies present to diagnose, genetic testing is an invaluable tool for clinicians to utilize in the process of diagnosis and determining treatment.

Breast cancer-related lymphedema (BCRL) remains a major chronic complication following axillary lymph node dissection (ALND), particularly in regions where locally advanced breast cancer is prevalent. While several clinical factors have been identified, the role of genetic predisposition in BCRL development remains underexplored. This study aimed to identify genetic and clinical factors associated with the development of BCRL, focusing on the Gap Junction Protein Alpha-4 (GJA4) rs705193 mutation as a potential biomarker.

This prospective cohort study was conducted on 106 breast cancer patients who consecutively underwent ALND in Dharmais Cancer Hospital from October 2022 until October 2024. BCRL was assessed using indocyanine green (ICG) lymphography during a 12-month follow-up. Clinical data were obtained from medical records. The GJA4 rs705193 mutations were analyzed in DNA samples from peripheral blood using Sanger sequencing. A multivariate Cox regression was used to evaluate the association of GJA4 mutation and clinical factors with BCRL.

BCRL developed in 56 (52.8%) patients during follow-up. Subjects with BCRL exhibited a significantly higher body mass index (BMI) than those without BCRL (27.3 vs. 25.0 kg/m², p = 0.023). GJA4 mutations were identified in 40 (37.7%) patients, comprising 25 (44.6%) patients with BCRL and 15 (30.0%) patients without BCRL. The multivariate Cox regression analysis demonstrated that GJA4 mutation (HR = 1.73, 95% CI: 1.01–2.99, p = 0.047) and BMI (HR = 1.75; 95% CI: 1.02–3.02; p = 0.043) were significantly associated with an increased risk of BCRL.

The GJA4 rs705193 mutations and elevated BMI independently increase the risk of BCRL in patients undergoing ALND. These findings enable the development of targeted preventive strategies for individuals at high risk.

Breast cancer-related upper limb lymphedema (BCRL), once established, requires lifelong self-management. Indocyanine green lymphography (ICGL) imaging is an approach used to visualize lymphatics to diagnose, stage, and guide lymphedema treatment. The impact of ICGL-based personalized conservative management on clinical outcomes (extracellular fluid measured by Lymphedema index [L-Dex] units) is unknown. This study aimed to explore the changes in strategies for BCRL management and clinical outcomes for 3 months following ICGL imaging.

Data from 20 female adults with BCRL who underwent ICGL imaging at the Australian Lymphedema Education Research and Treatment Center clinic at Macquarie University were included in this study. Data related to the ICGL findings, personalized conservative recommendations, and objective outcome measures were extracted. Data were analyzed retrospectively.

Conservative recommendations post-ICGL were significantly different in the number of strategies from the pre-ICGL (median [IQR] = 6 [2] vs. 3 [6], p < 0.001). Likewise, the number of compression garments and types of fabric (flat knit) prescribed were significantly higher following ICGL, and these changes were largely maintained by participants at 3 months. There were positive influences of ICGL-guided conservative management changes on bioimpedance spectroscopy, indicating improvements in lymphedema severity.

ICGL-guided personalized conservative recommendations often led to changes in participants’ management, resulting in positive clinical outcomes.