Application of Highly Flexible Adaptive Image Receive Coil for Lung MR Imaging Using Zero TE Sequence: Comparison with Conventional Anterior Array Coil

(1) Background: Highly flexible adaptive image receive (AIR) coil has become available for clinical use. The present study aimed to evaluate the performance of AIR anterior array coil in lung MR imaging using a zero echo time (ZTE) sequence compared with conventional anterior array (CAA) coil. (2) Methods: Sixty-six patients who underwent lung MR imaging using both AIR coil (ZTE-AIR) and CAA coil (ZTE-CAA) were enrolled. Image quality of ZTE-AIR and ZTE-CAA was quantified by calculating blur metric value, signal-to-noise ratio (SNR), and contrast-to-noise ratio (CNR) of lung parenchyma. Image quality was qualitatively assessed by two independent radiologists. Lesion detection capabilities for lung nodules and emphysema and/or lung cysts were evaluated. Patients’ comfort levels during examinations were assessed. (3) Results: SNR and CNR of lung parenchyma were higher (both p < 0.001) in ZTE-AIR than in ZTE-CAA. Image sharpness was superior in ZTE-AIR (p < 0.001). Subjective image quality assessed by two independent readers was superior (all p < 0.05) in ZTE-AIR. AIR coil was preferred by 64 of 66 patients. ZTE-AIR showed higher (all p < 0.05) sensitivity for sub-centimeter nodules than ZTE-CAA by both readers. ZTE-AIR showed higher (all p < 0.05) sensitivity and accuracy for detecting emphysema and/or cysts than ZTE-CAA by both readers. (4) Conclusions: The use of highly flexible AIR coil in ZTE lung MR imaging can improve image quality and patient comfort. Application of AIR coil in parenchymal imaging has potential for improving delineation of low-density parenchymal lesions and tiny nodules.

Computed tomography with 6-year follow-up demonstrates the evolution of HTLV-1 related lung injuries: A cohort study

Previous observational studies have demonstrated the development of pulmonary impairments in human T-lymphotropic virus type 1 (HTLV-1) infected individuals. The main observed lesions due to chronic inflammation of viral infection in situ are bronchiectasis and lung-scarring injuries. This lung inflammation may be the causal agent of restrictive and obstructive lung diseases, primarily in tropical spastic paraparesis/HTLV-1-associated myelopathy (TSP-HAM) patients. We conducted a prospective cohort study to compare spirometry and high-resolution computed tomography (HRCT) findings among 28 HTLV-1-carrier patients over the course of 6 years (2014–2019) (male/female: 7/21; mean age: 54.7 ± 9.5, range: 41–68 years). Chest HRCT exams revealed the development and evolution of lung lesions related to TSP-HAM: including centrilobular nodules, parenchymal bands, lung cysts, bronchiectasis, ground-glass opacity, mosaic attenuation, and pleural thickening. Spirometry exams showed maintenance of respiratory function, with few alterations in parameters suggestive of obstructive and restrictive disorders primarily in individuals with lung lesions and TSP-HAM. The findings of the present study indicate that pulmonary disease related to HTLV-1 is a progressive disease, with development of new lung lesions, mainly in individuals with TSP-HAM. To improve clinical management of these individuals, we recommend that individuals diagnosed with PET-MAH undergo pulmonary evaluation.

CYSTIC PULMONARY HAMARTOMA MANIFESTING AS SPONTANEOUS PNEUMOTHORAX

Cystic hamartoma refers to rare benign lung tumors. The literature describes 17 cases of this disease. The tumor may look like multiple bilateral cysts or a solitary single-chamber or multi-chamber cyst of a large size, which makes it difficult to diagnose. The disease can be complicated by spontaneous pneumothorax. The cyst itself often looks like a pneumothorax. An observation of a 52-year-old man complaining of chest pain and shortness of breath is presents. On the x-ray, the left lung is compressed with air, which is regarded as a spontaneous pneumothorax. Two-day drainage did not give any results. The video-assisted thoracoscopic surgery technique was performed and a large air cyst was detected. A conversion to a thoracotomy was made. A cyst of 20×15 cm size originated from the lower lobe, the lung was in atelectasis. Cyst resection and lung decortication were performed. Histological examination of the cyst wall revealed a hamartoma of the lung. The postoperative period was uneventful. Differential diagnosis of cystic hamartoma is conducting with lymphangioleiomyomatosis, air cysts, extrapulmonary sequestration, echinococcal cysts, and lung cancer. Indications for surgery are the following: chest pain, shortness of breath, pneumothorax, and hemoptysis. In a unilateral process, a cyst resection or lobectomy have to be performed. Cystic pulmonary hamartoma should be included in the differential diagnostic range in patients with recurrent spontaneous pneumothorax, hemoptysis, single and multiple lung cysts. It is impossible to determine the diagnosis without a biopsy and histological examination.

Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes

AimWe aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC) cohort.MethodsAll identified patients with a diagnosis of BHD or HLRCC at RBWH 01/01/2014-01/09/2019 were included (HREC/17/QRBW/276). All patients were initially assessed and counselled by a clinical geneticist and then referred to an adult nephrologist. Baseline and incidental clinical variables were extracted and analysed.ResultsFifty-seven patients were identified (28 BHD, 29 HLRCC) with a median age of 47 years. The median and cumulative follow-up were 1 and 99 years, respectively. Baseline renal MRI occurred in 40/57 patients, and 33/57 had regular MRI as per the national guidelines (eviQ). Of 18/57 without baseline imaging, nine were yet to have imaging, seven were lost follow-up, and two patients had logistic difficulties. RCC was diagnosed in 11/57 patients: two of 28 with BHD were diagnosed with RCC aged 73 and 77, both prior to commencement of surveillance. Nine of 29 patients with HLRCC were diagnosed with RCC (one of 29 during surveillance at 47 years of age) and eight of 29 prior to commencement of surveillance (11–55 years). Amongst BHD patients, cutaneous fibrofolliculomas were noted in 15 patients, lung cysts were detected in seven patients, spontaneous pneumothoraces in five patients, and parotid oncocytoma in two of 28. Amongst those with HLRCC, cutaneous leiomyomas were noted in 19/29, cutaneous leiomyosarcoma diagnosed in one of 29, and uterine fibroids in 13 female patients.ConclusionEvidence-based RCC screening in BHD and HLRCC cohort is feasible and able to identify incidental renal lesions. Multidisciplinary patient management enables expedited genetic counselling, diagnosis, longitudinal screening, and RCC management. The success of this clinical model warrants consideration of undertaking longitudinal screening of BHD and HLRCC patients by nephrologists.

September 2021 Pulmonary Case of the Month: A 45­-Year-Old Woman with Multiple Lung Cysts

No abstract available. Article truncated after the first 150 words. History of Present Illness A 45-year-old woman presented with increasing dyspnea on exertion and a history of recurrent pneumothoraces. In March 2018 she had laparoscopic ovarian cyst removal and noted some subsequent shortness of breath. In August 2018 she developed a right pneumothorax requiring chest tube placement. In September 2018 she had recurrent right pneumothorax and had video-assisted thoracoscopic surgery (VATS) with a right pleurodesis. The operative note from the outside VATS indicates a RUL bleb was removed and a wedge biopsy was done from posterior segment of the RUL. Pathology from the wedge biopsy reported “minimal emphysematous disease without other diagnostic abnormality”. She continued to be short of breath after the operation. PMH, SH, and FH • In 1975 she reportedly had pulmonary tuberculosis. • In 2018 the pneumothoraces, pleurodesis and the right ovarian cyst resection noted above. She is a never smoker and has no family history…

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms’ tumor) syndrome. Here, we report four families with germline DICER1 pathogenic variants in which one member in each family had a more complex phenotype, including skeletal findings, facial dysmorphism and developmental abnormalities. The developmental features occur with a variable expressivity and incomplete penetrance as also described for the neoplastic and dysplastic lesions associated with DICER1 variants. Whole exome sequencing (WES) was performed on all four cases and revealed no further pathogenic or likely pathogenic dominant, homozygous or compound heterozygous variants in three of them. Notably, a frameshift variant in ARID1B was detected in one patient explaining part of her phenotype. This series of patients shows that pathogenic DICER1 variants may be associated with a broader phenotypic spectrum than initially assumed, including predisposition to different tumours, skeletal findings, dysmorphism and developmental abnormalities, but genetic work up in syndromic patients should be comprehensive in order not to miss additional underlying /modifying causes.

Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report

We report a case of Birt-Hogg-Dube syndrome (BHDS), a rare hereditary syndrome, the main visible sign of which is the development of multiple skin fibrofolliculomas. In our case, there was a manifestation of BHDS consisting in the absence of fibrofolliculomas and presence of other characteristic features of this syndrome: lung cysts and renal cancer. The 26-year-old woman was admitted to a clinic for diagnosis and treatment of a neoplasm of the left kidney and had a history of renal cell cancer (RCC) of the right kidney and spontaneous pneumothorax. Multiple tumors of the left kidney and lung cysts were observed upon clinical and laboratory testing. Tumors of the left kidney were resected and diagnosed by a pathologist as chromophobe RCC. Sequencing of <i>FLCN</i> exons 4–14 from blood DNA revealed the heterozygous germline nonsense mutation c.1429C&#x3e;T (p.R477*), confirming the diagnosis of BHDS. Several somatic variants were detected by tumor DNA sequencing using the Comprehensive Cancer Panel and Ion S5 platform. Medical-genetic counseling was conducted, and follow-up management was outlined. To our knowledge, this case report is the first comprehensive clinical and genetic examination of a patient with BHDS in Russia. The p.R477* mutation has been described by other authors in patients with fibrofolliculomas and lung cysts, but not in those with RCC, while RCC was the first manifestation of BHDS in our case. The case report may help geneticists, oncologists, and other specialists to better understand the clinical and genetic heterogeneity of BHDS in various populations.

Folliculin haploinsufficiency causes cellular dysfunction of pleural mesothelial cells

Birt–Hogg–Dubé syndrome (BHDS), an autosomal dominant inheritance disease caused by folliculin (FLCN) mutations, is associated with lung cysts and spontaneous pneumothorax. The possibility of FLCN haploinsufficiency in pleural mesothelial cells (PMCs) contributing to development of pneumothorax has not yet been clarified. Electron microscopy revealed exposed intercellular boundaries between PMCs on visceral pleura and decreased electron density around the adherens junctions in BHDS. To characterize cellular function of PMCs in BHDS patients (BHDS-PMCs), during surgery for pneumothorax, we established the flow cytometry-based methods of isolating high-purity PMCs from pleural lavage fluid. BHDS-PMCs showed impaired cell attachment and a significant decrease in proliferation and migration, but a significant increase in apoptosis compared with PMCs from primary spontaneous pneumothorax (PSP) patients (PSP-PMCs). Microarray analysis using isolated PMCs revealed a significant alteration in the expression of genes belonging to Gene Ontology terms “cell–cell adhesion junction” and “cell adhesion molecule binding”. Gene set enrichment analysis demonstrated that CDH1, encoding E-cadherin, was identified in the down-regulated leading edge of a plot in BHDS-PMCs. AMPK and LKB1 activation were significantly impaired in BHDS-PMCs compared with PSP-PMCs. Our findings indicate that FLCN haploinsufficiency may affect the E-cadherin-LKB1-AMPK axis and lead to abnormal cellular function in BHDS-PMCs.