Langerhans cell histiocytosis and Erdheim‐Chester disease,both with cutaneous presentations,and papillary thyroid carcinoma all harboring the BRAFV600E mutation

Langerhans cell histocytosis (LCH) and Erdheim‐Chester disease are two rare histiocytic disorders. Their occurrence in the same patient is more infrequent, but has been described. We report a case of a 38‐year‐old woman who presented with a diagnosis of single system cutaneous LCH. Subsequently, she developed multiple papules on her extremities consistent with a non‐LCH xanthogranuloma type lesion. BRAF^V600E mutation immunostain, VE1 was positive in the skin lesion, which was confirmed by molecular polymerase chain reaction (PCR) studies, initiating a complete systemic workup for Erdheim‐Chester disease. Systemic involvement was confirmed with bilateral sclerotic bone lesions and retroperitoneal and pelvic fibrosing disease. She was also found to have a BRAF^V600E mutation positive papillary thyroid carcinoma. New suspicious cutaneous lesions presenting in patients with a history of LCH need to be biopsied. A BRAF^V600E mutation in a non‐LCH histiocytic lesion with a xanthogranuloma phenotype (CD163/CD68/CD14/fascin/Factor 13a) should prompt an Erdheim‐Chester disease workup. This is a unique case of a woman with BRAF^V600E mutation positive Erdheim‐Chester disease and cutaneous LCH, while also being, to our knowledge, the first reported case in the English literature of it occurring in a patient with a BRAF^V600E mutation positive papillary thyroid carcinoma.     

Congenital Pulmonary Vein Stenosis: Encouraging Mid-term Outcome

Congenital pulmonary vein stenosis (PVS) is a rare entity with limited outcome literature. Multiple interventional approaches have evolved including surgical and catheterization techniques. Our objective is to report our center experience and to compare short-term and mid-term outcomes among these therapeutic modalities. Retrospective study on 23 patients (n = 23) with PVS that required intervention over the last 13 years (2000–2013). Patients were divided into three groups based on type of initial intervention. Of these, 10 (43.5 %) had balloon angioplasty, 3 (13.0 %) had surgical dilation, and 10 (43.5 %) had surgical marsupialization. Mortality and number of re-interventions were our primary outcomes. Mean age at diagnosis was 10.9 ± 18.4 months. Mean age at initial intervention was 14.5 ± 18.0 months. Mean pre- and post-initial intervention PVS gradients were 9.2 ± 3.4 and 3.4 ± 2.2 mmHg, respectively. Mean survival time and re-intervention-free survival time were 4.8 ± 4.0 and 2.8 ± 3.4 years. No statistical significance was found between the interventions with respect to survival time (p = 0.52) and re-intervention free time (p = 0.78). High initial pre- and post-intervention gradients were significantly associated with re-intervention-free survival (p = 0.01 and p = 0.03, respectively). Patients with bilateral disease have increased mortality (p = 0.01) and decreased 5-year survival (p = 0.009) compared to patients with unilateral disease irrespective of type of intervention. No statistically significant difference in mortality or re-intervention rate was present among these different therapeutic modalities. This study has the longest follow-up so far reported in the current literature (58 months) with overall survival of 78 %.     

Futility and the Care of Surgical Patients: Ethical Dilemmas

Futility has been a contentious topic in medicine for several decades. Surgery in critical or end-of-life situations often raises difficult questions about futility. In this article, we discuss the definition of futility, methods for resolving futility disputes, and some ways to reframe the futility debate to a more fruitful discussion about the goals of care, better communication between surgeon and patient/surrogate, and palliative surgical care. Many definitions of futile therapy have been discussed. The most controversial of these is “qualitative futility” which describes a situation in which the treatment provided is likely to result in an unacceptable quality of life. This is an area of continued controversy because it has been impossible to identify universally held beliefs about acceptable quality of life. Many authors have described methods for resolving futility disputes, including community standards and legalistic multi-step due process protocols. Others, however, have abandoned the concept of futility altogether as an unhelpful term. Reframing the issue of futility as one of inadequate physician–patient communication, these authors have advocated for methods of improving communication and strengthening the patient–physician relationship. Finally, we discuss the utilization of consultants who may be of use in resolving futility disputes: ethics committees, palliative care specialists, pastoral care teams, and dedicated patient advocates. Involving these specialists in a futility conflict can help improve communication and provide invaluable assistance in arriving at the appropriate treatment decision.