Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress

Lammens CRM, Bleiker EMA, Verhoef S, Hes FJ, Ausems MGEM, Majoor‐Krakauer D, Sijmons RH, Luijt van der RB, Ouweland van den AMW, Van Os Tam, Hoogerbrugge N, Gomez‐Garcia EB, Dommering CJ, Gundy CM, Aaronson NK. Psychosocial impact of von Hippel–Lindau disease: levels and sources of distress. Von Hippel–Lindau disease (VHL) is a hereditary tumor susceptibility syndrome, characterized by an increased risk of developing multiple benign and malignant tumors at various sites and ages with limited preventive options. This study evaluates the prevalence of distress among VHL family members and factors associated significantly with such distress. Forty‐eight families with a VHL mutation were identified via the nine family cancer clinics in the Netherlands. In total, 171 family members (carriers, 50% at‐risk, non‐carriers) were approached, of whom 123 (72%) completed a self‐report questionnaire. Approximately 40% of the VHL family members reported clinically relevant levels of distress, approaching 50% among the carriers and, possibly even more striking, 36% among the non‐carriers. Having lost a first degree relative due to VHL during adolescence (OR 11.2; 95% CI 1.4–86.9) was related significantly to heightened levels of distress. Approximately, only one‐third of those who reported heightened levels of distress had received professional psychosocial support. A substantial percentage of family members experience clinically relevant levels of distress. We would recommend the introduction of a procedure for screening for distress in this vulnerable population. Special attention should be paid to those individuals who have lost a close relative due to VHL during adolescence.     

The German version of the Assessment of Chronic Illness Care: instrument translation and cultural adaptation

Background In Switzerland, there is a dearth of information on the extent to which patients with chronic illnesses receive care congruent with the Chronic Care Model (CCM). To drive quality improvement programmes, it is necessary to have practical assessment tools in the country's own language to evaluate the delivery of CCM activities. Methods German translation and adaptation of the original Assessment of Chronic Illness Care (ACIC). We followed a sequential forward and backward translation approach. In a multidisciplinary committee review the original English version and the translations were compared, instructions and formats modified and cross‐cultural equivalences verified. The second version was pre‐tested and multidisciplinary group discussion led to the final version which aimed to create a comprehensive culturally adapted translation capturing the original idea of the items rather than a direct one to one translation. Results Difficulties encountered during the translation process consisted in the difference of health care settings and health care organization in Switzerland and USA.The adapted German version was delivered to a managed care organization in the city of Zurich to test the initial use for diabetes care. The average ACIC subscale scores were: organization of the health care delivery system: mean (m) = 7.31 (SD = 0.79), community linkages: m = 3.78 (SD = 1.09), self‐management support: m = 4.88 (SD = 1.21), decision support: m = 4.79 (SD = 1.16), delivery system design: m = 5.56 (SD = 1.28) and clinical information systems: m = 4.50 (SD = 2.69). Overall, the ACIC subscale scores were comparable with the scores of the original testing. Conclusion After cultural adaptations the German version of the ACIC is applicable as a tool to guide quality improvement in chronic illness care in German speaking countries in Europe.     

Dedifferentiated chondrosarcoma of the lung: case report and review of the literature

Primary malignant chondromatoid tumors of the lungs are rare. We report on a case of a 49-year-old woman who presented with a round focus in the upper lobe of the left lung. The performed biopsy showed features of a leiomyosarcoma. After chemotherapy and consecutive tumor resection, the histologic investigation of the entire tumor mass revealed a dedifferentiated chondrosarcoma. Careful clinical and radiologic examinations showed no evidence of further pulmonary and extra-pulmonary tumor lesions. The final diagnosis of a primary dedifferentiated chondrosarcoma of the lung was based on the morphologic criteria and review of the literature. The differential diagnosis of malignant hamartoma was discussed. Follow-up investigation after 2.5 years showed no evidence of another primary tumor site.     

Über Beteiligung der Schleimhaut des Mundes und der Speiseröhre bei Epidermolysis bullosa hereditaria

Ohne Zusammenfassung     

Pattern of MUC6 expression across 119 different tumor types: A tissue microarray study on 15 412 tumors

Mucin 6 (MUC6) is a secreted gel-forming mucin covering the surfaces of gastrointestinal and other tissues. Published work demonstrates that MUC6 can also be expressed in several cancer types and can aid in the distinction of different tumor entities. To systematically analyze MUC6 expression in normal and cancerous tissues, a tissue microarray containing 15 412 samples from 119 different tumor types and subtypes as well as 608 samples of 76 different normal tissue types was analyzed by immunohistochemistry. At least a weak MUC6 positivity was seen in 50 of 119 (42%) tumor entities. Thirty-three tumor entities included tumors with strong positivity. MUC6 immunostaining was most frequent in mucinous carcinomas of the breast (44%), adenocarcinomas of the stomach (30%–40%) and esophagus (35%), and neuroendocrine carcinomas of the colon. Strong MUC6 staining was linked to advanced pT stage (p = 0.0464), defective mismatch repair status and right-sided tumor location (p < 0.0001 each) in colorectal cancer, as well as to high tumor grade (p = 0.0291), nodal metastasis (p = 0.0485), erb-b2 receptor tyrosine kinase 2 positivity (p < 0.0001) and negative estrogen receptor (p = 0.0332)/progesterone receptor (p = 0.0257) status in breast carcinomas of no special type. The broad range of tumor types with MUC6 expression limits the utility of MUC6 immunohistochemistry for the distinction of different tumor types.     

Cytokeratin 13 (CK13) expression in cancer: a tissue microarray study on 10,439 tumors

Cytokeratin 13 (CK13) is a type I acidic low molecular weight cytokeratin, which is mainly expressed in urothelium and in the squamous epithelium of various sites of origin. Loss of CK13 has been implicated in the development and progression of squamous epithelial neoplasms. To comprehensively determine CK13 expression in normal and neoplastic tissues, a tissue microarray containing 10,439 samples from 131 different tumor types and subtypes as well as 608 samples of 76 different normal tissue types was analyzed by immunohistochemistry. CK13 immunostaining was detectable in 42 (32.1%) of the 131 tumor categories including 24 (18.3%) tumor types with at least one strongly positive case. The highest rate of positive staining was found in various urothelial neoplasms (52.1–92.3%) including Brenner tumor of the ovary (86.8%) and in squamous cell carcinomas from various sites of origin (39.1–77.6%), Warthin tumors of parotid glands (66.7%), adenosquamous carcinomas of the cervix (33.3%), thymomas (16.0%), and endometroid carcinomas of the ovary (15.3%). Twenty other epithelial or germ cell neoplasms showed – a usually weak – CK13 positivity in less than 15% of the cases. In bladder cancer, reduced CK13 expression was linked to high grade and advanced stage (p < 0.0001 each). In squamous cell carcinoma of the cervix, reduced CK13 immunostaining was related to high grade (p = 0.0295) and shortened recurrence-free (p = 0.0094) and overall survival (p = 0.0274). In a combined analysis of 1,151 squamous cell carcinomas from 11 different sites of origin, reduced CK13 staining was linked to high grade (p = 0.0050). Our data provide a comprehensive overview on CK13 expression in normal and neoplastic human tissues. CK13 expression predominates in urothelial neoplasms and in squamous cell carcinomas of different organs, and a loss of CK13 expression is associated with aggressive disease in these tumors.