SMARCA4 and SMARCA2 deficiency in non–small cell lung cancer: immunohistochemical survey of 316 consecutive specimens

The chromatin remodeling switch sucrose nonfermentable (SWI/SNF) complex has been increasingly implicated in the pathogenesis and dedifferentiation of neoplasms from several organs with prognostic and potential therapeutic implications. We herein investigated the expression of the SWI/SNF complex catalytic subunits SMARCA4 (BRG1) and SMARCA2 (BRM) in 316 consecutive non-small cell lung cancer (NSCLC) specimens on tissue microarrays (171 adenocarcinomas [ADCAs], 130 squamous cell carcinomas [SCCs], 9 adenosquamous carcinomas, and 6 large cell carcinomas) excluding undifferentiated/giant cell or rhabdoid carcinomas. Complete loss of SMARCA4 was observed in 8 (5.5%) of 146 evaluable pulmonary ADCAs and 6 (5.2%) of 115 evaluable pulmonary SCCs, whereas 9 (6.4%) of 140 ADCAs and 2 (1.7%) of 117 SCCs showed SMARCA2 loss. Two of 6 large cell carcinomas were SMARCA2 deficient. Concurrent loss of both markers was observed in 4 cases (2 ADCAs and 2 SCCs). Of 15 ADCAs with loss of either or both markers, 12 (80%) were TTF1 negative. In conclusion, SMARCA4 and SMARCA2 deficiency is observed in 5.1% and 4.8% of NSCLC, respectively. SMARCB1 expression was intact in all cases. The presence of differentiated histology (glandular or squamous) is a novel aspect among SWI/SNF-deficient carcinomas which in other organs generally are associated with undifferentiated/rhabdoid morphology. The predominance of TTF1 negativity among SWI/SNF-deficient pulmonary ADCA (80%) underlines the need to include these 2 markers in the evaluation of TTF1-negative ADCA of putative pulmonary origin. Given the recently documented potential of SMARCA4 loss as a predictor of chemosensitivity to platinum-based chemotherapy in NSCLC, recognition of the clinicopathological features of SMARCA4-deficient NSCLC in routine surgical pathology practice is recommended.     

Treatment of a Recurrent Chest Wall Desmoid Tumor Using a CT-Guided Steroid Injection

We report on a 41-year-old woman with a chest wall desmoid tumour who was successfully treated with a computed tomography (CT)-guided steroid injection. She presented with a palpable mass in the right upper chest wall and was treated by surgical excision and postoperative radiation therapy due to recurrence of the mass at the surgical site. At 20 months after the second operation, a recurrent mass was again detected in the anterosuperior portion of the previous surgical site on CT. We performed a CT-guided steroid injection weekly for 4 weeks by applying a mixture of 3 mL of triamcinolone acetonide (40 mg/mL) and 3 mL of 1% Lidocaine, administering 4-6 mL of the mixture, to the lesion. Six months later, CT showed a marked decrease in the size of the mass.     

Isolated Spinal Neurocysticercosis : Unusual Ocular Presentation Mimicking Pseudotumor Cerebri

Spinal intradural cysticercosis is a rare manifestation of neurocysticercosis. We report a unique patient who showed visual symptoms and normal imaging of the brain caused by isolated spinal neurocysticercosis. A 59-year-old male patient was admitted to the emergency unit with a history of severe headache and progressive blurred vision. Brain computed tomographic scanning and magnetic resonance imaging showed normal cerebral anatomy without hydrocephalus. The fundoscopic evaluation by an ophthalmologist showed bilateral papilledema. Perimetry studies revealed visual field defects in both eyes. With the diagnosis of pseudotumor cerebri, a lumbar tap was attempted; however, we could not drain the cerebrospinal fluid in spite of appropriate attempts. Lumbar magnetic resonance imaging revealed multilevel intraspinal lesions that were confirmed histologically to be neurocysticercosis. An intraoperative lumbar puncture revealed an increased opening pressure and cytochemical analysis showed elevated cerebrospinal fluid protein level. The headache resolved immediately after surgery. However, the visual symptoms remained and recovered only marginally despite antihelminthic medications after six months of operation.     

Long-term morbidity of congenital diaphragmatic hernia: A plea for standardization

Congenital diaphragmatic hernia (CDH) survivors present long-term morbidities in several systems, including the neurodevelopmental, gastrointestinal, pulmonary, and musculoskeletal ones, and CDH long-term sequelae are increasingly being recognized. Due to high co-morbidity, health related quality of life in a significant proportion of CDH patients might be compromised. As a consequence of consciousness on the long-term sequelae of CDH survivors, and their consequences for life, several follow-up programs were brought to life worldwide. In this review, we will summarize the long-term sequelae of CDH survivors, the impact of new treatments, and analyze the consistency of follow-up programs.     

Pulmonary nodules and nodular scleritis in a teenager with superficial granulomatous pyoderma gangrenosum

Superficial granulomatous pyoderma gangrenosum, a rare variant of pyoderma gangrenosum, has been considered to be the most benign form of the disease. We present the case of a 15‐year‐old boy with pulmonary involvement and nodular scleritis associated with this unusual type of pyoderma gangrenosum and discuss its differential diagnosis.