Case report: If it is not asthma-think of lymphangioleiomyomatosis in younger female patients.

Lymphangioleiomyomatosis (LAM) is a rare lung disease predominantly affecting women, and it is characterized by the proliferation of smooth muscle cells and cystic lung destruction. LAM diagnosis is challenging due to varied clinical presentations and resemblance to common conditions such as asthma. We present two female cases where LAM was initially misdiagnosed. Case 1 describes a woman treated for asthma-chronic obstruction pulmonary disease overlap syndrome, while also undergoing treatment with vascular endothelial growth factor (VEGF) inhibitor pazopanib for a retroperitoneal leiomyoma, the latter responding well to treatment. Due to progressive dyspnea, pazopanib-induced pneumonitis was suspected. High-resolution computed tomography (HRCT) showed changes compatible with LAM. A revision of biopsies showed that the leiomyoma was in fact a lymphangioleiomyoma, and VEGF-D was increased. Both supported the LAM diagnosis. Treatment with mTORC1 inhibitor sirolimus was initiated. Case 2 describes a woman, who in resemblance with the woman from case 2 was also suspected of asthma and did not respond clinically to treatment. After several years, HRCT was performed and suspicion of LAM was raised. Transbronchial biopsy and later, an increased VEGF-D supported the LAM diagnosis. As in case 1, treatment with sirolimus was initiated. These cases underscore the importance of reevaluating diagnoses when treatments fail to yield expected results. Improved awareness and early detection of LAM can enhance patient outcomes and life quality. Early LAM diagnosis is vital as mTORC1 inhibitors such as sirolimus can prevent further decline in lung function. Notably, the response of case 2 to pazopanib treatment supports suggestions of its potential as a second-line therapy for perivascular epithelioid cell tumors (PEComas), including LAM.

Corrigendum to "Two compound techniques for total body irradiation" [Tech. Innov. Patient Support Radiat. Oncol. 21 (2022) 1-7].

[This corrects the article DOI: 10.1016/j.tipsro.2021.11.006.].

Walking a tightrope - as a next-of-kin to an adolescent or young adult with cancer facing eating difficulties.

PURPOSE: Eating difficulties cause reduced food intake and poor quality of life among adolescents and young adults (AYAs) with cancer. Therefore, next-of-kin eating support is crucial. The purpose of this study was to explore the lived experiences of being close to AYAs with cancer in the context of eating when they are at home between high-emetogenic chemotherapy (HEC) sessions. METHOD: In-depth interviews were conducted with 12 next-of-kin to AYAs (15-29 years old) with oncological or haematological diseases, treated with HEC. Van Manen's hermeneutic-phenomenological approach guided the design. RESULTS: The essential meaning of the next-of-kin experiences is reflected in the overarching theme "Utilizing meals as an action-opportunity" consisting of two subthemes: 'Being on constant alert' and "Walking a tightrope to maintain usual everyday life." CONCLUSIONS: Findings revealed that utilizing meals as an action-opportunity towards AYAs' food intake involved existential feelings including fear of losing their loved ones. Next-of-kin experienced that providing support through and with food was their only avenue of action. However, this sparked feelings of frustration and powerlessness.

Two compound techniques for total body irradiation.

INTRODUCTION: Total body irradiation (TBI) is an important treatment modality that is used in combination with chemotherapy in many stem cell transplantation protocols. Therefore, the quality of the irradiation is important. Two techniques for planning and delivering TBI are presented and compared. METHODS AND MATERIALS: The technique named ExIMRT is a combination of manually shaped conventional fields from an extended SSD and isocentric IMRT fields. The technique named ExVMAT is a combination of conventional and IMRT fields from an extended SSD and isocentric VMAT fields. Dosimetric data from 32 patients who were planned and treated according to one of the two techniques were compared. RESULTS: When comparing the two techniques, it is determined that the ExVMAT technique is able to significantly reduce the mean total volume overdosed by 120% from 408 to 12 cm3. The dose covering 98% of the total lung volume is significantly increased by this technique from a mean of 9.7 Gy to 10.3 Gy. Additionally, the dose covering 2% of the total kidney volume is significantly decreased from a mean of 12.8 to 12.5 Gy. Furthermore, the population-based variance of the median dose to the total lung volume, the heart and the volume of the body prescribed to 12.5 Gy is significantly reduced. The results are obtained without compromising overall treatment quality as treatment time or dose rate to the lungs. CONCLUSION: Using the ExVMAT technique, a superior dose distribution can be delivered both from a patient and a population perspective compared to the ExIMRT technique.

Struggling to Eat to Survive Cancer-Lived Experiences of Eating Among Adolescents and Young Adults Undergoing High-Emetogenic Chemotherapy.

Purpose: The purpose of this study was to provide in-depth understanding of adolescents' and young adults' (AYAs') lived experiences of eating when they are at home between high-emetogenic chemotherapy sessions. Methods: The study was guided by van Manen's hermeneutic-phenomenological methodology. Eligible AYAs were 15-29 years old, diagnosed with either oncological or hematological cancer, treated with high-emetogenic chemotherapy, and Danish speaking. AYAs were recruited from three university hospital departments. Data were collected using semi-structured in-depth interviews. Results: Thirteen AYAs, aged 17-29 years, participated in the interviews via telephone or face-to-face in their homes. The essential meaning of the phenomenon of eating can be characterized by the overarching theme "Struggling to eat to survive" and unfolded through the following three themes: "Cooperating with a deceiving body", "Capturing moments of eating opportunities", and "Being loved and cared for at home". Conclusions: Struggling to eat was essential for survival and a fundamental existential challenge that required reflection and consciousness. AYAs experienced their deceiving bodies as a major concern, which challenged their ability to eat and forced them to develop strategies to capture moments of eating opportunities. AYAs kept hold of doing "something" themselves to maintain the slightest control of their own lives and thereby assist clinical outcomes and cure. However, AYAs had to struggle with food and start viewing food as a friend, not an enemy.

Love, joy and necessity - A phenomenological study of food and meals in adolescents and young adults with cancer receiving high-emetogenic chemotherapy.

PURPOSE: This study explored how the phenomenon of meals appeared in the interrelationship between adolescents and young adults (AYAs) receiving high-emetogenic chemotherapy, their next of kin and health professionals in the clinical setting. METHOD: Data were collected by 140 h of participant observation conducted to gain insights into the nature of how meals appeared in the interrelationship between 12 AYAs (age 15-29 years), their next-of-kin and health professionals. The AYAs were patients with oncological and haematological diseases recruited from three university hospital departments. Data analysis was guided by van Manen's hermeneutic-phenomenological approach. RESULTS: The essential meaning of the phenomenon may be characterized by the overarching theme; 'Seeking the joy of meals in the shadow of treatment' and the following three themes: 'Meals as a necessary evil' (AYAs); 'Meals as a matter of love' (next-of-kin); and 'Meals in the shadow of medical treatment' (health professionals). CONCLUSIONS: Meals is a multi-facetted and complex phenomenon that has different meanings to AYAs, next-of-kin and health professionals. To the AYAs, meals emerged as a necessary evil in connection with which urges to eat occurred as glimpses of desire. Prominent feelings of powerlessness and food as love were highlighted by the next-of-kin, whereas food and meals appeared secondary to treatment for health professionals, reflecting the traditional biomedical paradigm. The findings revealed that adopting a holistic approach to AYAs concerning meals can have the potential to increase their food intake.

Delineation of whole heart and substructures in thoracic radiation therapy: National guidelines and contouring atlas by the Danish Multidisciplinary Cancer Groups.

BACKGROUND AND PURPOSE: This study presents Danish consensus guidelines for delineation of the heart and cardiac substructures across relevant Danish Multidisciplinary Cancer Groups. MATERIAL AND METHODS: Consensus guidelines for the heart and cardiac substructures were reached among 15 observers representing the radiotherapy (RT) committees of four Danish Multidisciplinary Cancer Groups. The guidelines were validated on CT scans of 12 patients, each with five independent contour sets. The Sørensen-Dice similarity coefficient (DSC), the distance between the centers of the arteries and the mean surface distance were used to evaluate the inter-observer variation. RESULTS: National guidelines for contouring the heart and cardiac substructures were achieved. The median DSC was 0.78-0.96 for the heart and the four cardiac chambers. For the four substructures of the left ventricle, the median DSC was 0.35-0.57. The coronary arteries were contoured in ten segments, with the best agreement for the left anterior descending coronary artery segments, with a median distance between the arteries ranging from 2.4-4.4 mm. The median variation was 3.7-12.8 mm for the right coronary artery segments and 3.7-6.2 mm for the left circumflex coronary artery segments, with the most pronounced inter-observer variation in the distal segment for all three coronary arteries. CONCLUSION: National guidelines for contouring the heart and cardiac substructures were developed across relevant Danish Multidisciplinary Cancer Groups, where RT dose to the heart is of concern. The inter-observer contour overlap was best for the heart and chambers and decreased for smaller structures.

A Randomized Controlled Trial of Emotion Regulation Therapy for Psychologically Distressed Caregivers of Cancer Patients.

BACKGROUND: Previous cognitive behavioral therapies for informal caregivers (ICs) have produced negligible effects. The purpose of this study was to evaluate, in a randomized controlled trial, the efficacy of Emotion Regulation Therapy adapted for caregivers (ERT-C) on psychological and inflammatory outcomes in psychologically distressed ICs and the cancer patients cared for. METHODS: A total of 81 ICs with elevated psychological distress were randomly assigned to ERT-C or a waitlist condition and assessed pre-, mid-, and post-treatment. In 52 cases, the patient cared for by the IC was included. Patients did not receive ERT-C. Both the ERT-C and waitlist groups were followed 3 and 6 months post-treatment. Data were analyzed with multilevel models, and P values were two-sided. RESULTS: Compared with ICs in the waitlist condition, ICs in the ERT-C condition experienced medium to large statistically significant reductions in psychological distress (Hedge's g = 0.86, 95% confidence interval [CI] = 0.40 to 1.32, P < .001), worry (g = 0.96, 95% CI = 0.50 to 1.42, P < .001), and caregiver burden (g = 0.53, 95% CI = 0.10 to 1.99, P = .007) post-treatment. No statistically significant effects were found for rumination (g = 0.24, 95% CI = -0.20 to 0.68, P = .220). Results concerning caregiver burden were maintained through 6 months follow-up. Although the effects on psychological distress and worry diminished, their end-point effects remained medium to large. No statistically significant effects on systemic inflammation were detected (C-reactive protein: g = .17, 95% CI = -0.27 to 0.61, P = .570; interleukin-6: g = .35, 95% CI = -0.09 to 0.79, P = .205; tumor necrosis factor-alpha: g = .11, 95% CI = -0.33 to 0.55, P = .686). Patients whose ICs attended ERT-C experienced a large increase in quality of life post-treatment (g = 0.88, 95% CI = 0.18 to 1.58, P = .017). CONCLUSIONS: To our knowledge, this is the first randomized controlled trial evaluating the efficacy of ERT-C for ICs. Given the previous disappointing effects of other cognitive behavioral therapies for this population, the present findings are very encouraging. Identifying ICs with elevated psychological distress and providing them with relevant psychotherapy appears an important element of comprehensive cancer care.

Pazopanib in the Treatment of Bone Sarcomas: Clinical Experience.

BACKGROUND: The effect of chemotherapy in metastatic bone sarcomas is poor and the condition is invariably fatal. Therefore, new treatment modalities are intensely needed. Pazopanib is a selective multitargeted tyrosine kinase inhibitor that has proven to be effective in the treatment of metastatic soft tissue sarcomas. The objective of this study was to evaluate the off-label use of pazopanib in patients with metastatic bone sarcomas who failed standard chemotherapy. METHODS: All patients with metastatic bone sarcomas treated with pazopanib between October 1st, 2011 and October 1st, 2017 at the Department of Oncology, Aarhus University Hospital were evaluated. Demographics, treatment, and survival outcomes were collected and analyzed. RESULTS: Nineteen patients were identified. The median age was 38 years (range 18-62). Most of the patients (50%) were diagnosed with osteosarcoma. All patients had documented disease progression at the time of initiating pazopanib treatment. The median overall survival was 11 months. Median progression free survival was 5.4 months. Out of 19 patients, 13 (68%) had either partial response or stable disease. In five patients, the dose of pazopanib was reduced because of toxicity. CONCLUSION: Off-label use of pazopanib is effective in the treatment of metastatic bone sarcomas of different histologies. Pazopanib was well tolerated in the treatment of patients with refractory bone sarcomas. Studies examining the effect of pazopanib alone or in combination with chemotherapy or other targeted therapies are needed.

[Doege-Potter syndrome is a solitary fibrotic tumour often leading to hypoglycaemia].

Doege-Potter syndrome is a rare paraneoplastic syndrome, in which a solitary fibrotic tumour secretes insulin-like growth factor II leading to hypoglycaemia. In this case report, a 70-year-old woman known with a big intra-abdominal tumour was admitted to hospital, unconscious with a blood sugar of 1.8 mmol/l. She was treated with intravenous glucose until surgery, which cured her temporarily. After four months she had relapse and no effect of chemotherapy. Surgery is the only curative treatment for Doege-Potter syndrome, which is important to remember, if a patient has unexplained hypoglycaemia and a tumour.

[Gas-filled liver metastases caused by Clostridium septicum sepsis].

In this case report a 73-year-old male with liver-metastatic colon cancer was admitted to hospital due to severe abdominal pain merely four days after receiving chemotherapy including epidermal growth factor receptor inhibitors. An acute computed tomography revealed gas-filled liver metastases with two possible diagnoses of either a rapid tumour response resulting in tumour necrosis or severe bacterial infection involving liver metastases. Moreover, the patient had an anaerobic infection with Clostridium septicum, and despite relevant treatment he died within 12 hours after admission.

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosome 13q21.1-qter deletions, we applied 244k Agilent oligonucleotide-based array-CGH to determine the exact breakpoints in 14 patients with partial deletions of this region. Subsequently, we linked the genotype to the patient's phenotype. Using this approach, we were able to refine the smallest deletion region linked to short stature (13q31.3: 89.5-91.6 Mb), microcephaly (13q33.3-q34), cortical development malformations (13q33.1-qter), Dandy-Walker malformation (DWM) (13q32.2-q33.1), corpus callosum agenesis (CCA) (13q32.3-q33.1), meningocele/encephalocele (13q31.3-qter), DWM, CCA, and neural tube defects (NTDs) taken together (13q32.3-q33.1), ano-/microphthalmia (13q31.3-13qter), cleft lip/palate (13q31.3-13q33.1), lung hypoplasia (13q31.3-13q33.1), and thumb a-/hypoplasia (13q31.3-q33.1 and 13q33.3-q34). Based on observations of this study and previous reports we suggest a new entity, "distal limb anomalies association," linked to 13q31.3q33.1 segment. Most of the individuals with deletion of any part of 13q21qter showed surprisingly similar facial dysmorphic features, and thus, a "13q deletion facial appearance" was suggested. Prominent nasal columella was mapped between 13q31.3 and 13q33.3, and micrognathia between 13q21.33 and 13q31.1. The degree of mental delay did not display a particular phenotype-genotype correlation on chromosome 13. In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years.

Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH.

In a prospective study 94 individuals with mental retardation (MR) and dysmorphic features with normal conventional karyotypes were investigated by both subtelomeric FISH and high resolution CGH (HR-CGH) in order to compare the potential of the two techniques in this application. A total of 9.6% abnormalities were found with HR-CGH and subtelomeric FISH, with HR-CGH detecting 8.5% (95% CI: 4.4-15.9) and FISH 3.2% (95% CI: 1.2-9.0). Thus, the techniques complemented each other, however, the diagnostic yield appeared higher of HR-CGH than of subtelomeric FISH, as most aberrations were interstitial. Another 330 individuals with MR and dysmorphic features with normal conventional karyotypes were investigated by HR-CGH on a routine basis. When added to the analyses of the prospective study a total of 51/424 (12%; 95% CI: 9.3-15.5) abnormalities were found, of which the majority were interstitial. We conclude that HR-CGH is well suited for routine screening for cryptic chromosomal imbalances in patients with MR and dysmorphic features. It is likely that the use of the technique in this application will reinforce the effort of defining new syndromes.