A Case of Pulmonary Adenocarcinoma Presenting with Diffuse Cystic Lesions

The main causes of diffuse cystic lung diseases include lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis, Birt-Hogg-Dubé syndrome, lymphoid interstitial pneumonia, light chain deposition disease, <i>Pneumocystis jirovecii</i> pneumonia, hypersensitivity pneumonitis, and desquamative interstitial pneumonia. Diffuse cystic lung diseases are rarely caused by a malignant process, which are secondary to metastases from sarcomas and gastrointestinal and gynecologic adenocarcinomas. Here, we present a rare case of invasive pulmonary adenocarcinoma associated with progressive diffusion of cystic lesions, revealed by chronic cough and progressive shortness of breath. It is important for clinicians to be aware of this unusual imaging manifestation of lung cancer, to avoid misdiagnoses.

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Ultra-rare cystic disease

European Respiratory Review ◽

10.1183/16000617.0163-2019 ◽

2020 ◽

Vol 29 (157) ◽

pp. 190163

Author(s):

Davide Elia ◽

Olga Torre ◽

Roberto Cassandro ◽

Antonella Caminati ◽

Sergio Harari

Keyword(s):

Computed Tomography ◽

Lung Disease ◽

Lung Diseases ◽

Matrix Metalloproteases ◽

Small Airways ◽

Light Chain Deposition Disease ◽

Cystic Lung ◽

Neoplastic Lesion ◽

Asymptomatic Patients ◽

Scan Pattern

Diffuse cystic lung diseases include a group of heterogeneous disorders characterised by the presence of cysts within the lung parenchyma, sometimes showing a characteristic computed tomography scan pattern that allows diagnosis. The pathogenetic mechanisms underlying cyst formation in the lung are still not clear and a number of hypotheses have been postulated according to the different aetiologies: ball-valve effect, ischaemic dilatation of small airways and alveoli related to infiltration and obstruction of small vessels and capillaries that supply the terminal bronchioles and connective tissue degradation by matrix metalloproteases. A wide number of lung cyst diseases have been classified into six diagnostic groups according to the aetiology: neoplastic, congenital/genetic, lymphoproliferative, infective, associated with interstitial lung diseases, and other causes. This article focuses on lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and Erdheim–Chester disease, Birt–Hogg–Dubé, follicular bronchiolitis and lymphocytic interstitial pneumonia, light-chain deposition disease and amyloidosis, congenital lung disease associated with aberrant lung development and growth, and cystic lung disease associated with neoplastic lesion. These cystic diseases are epidemiologically considered as ultra-rare conditions as they affect fewer than one individual per 50 000 or fewer than 20 individuals per million. Despite the rarity of this group of disorders, the increasing use of high-resolution computed tomography has improved the diagnostic yield, even in asymptomatic patients allowing prompt and correct therapy and management without the need for a biopsy.

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Presentation, diagnosis and clinical course of the spectrum of progressive-fibrosing interstitial lung diseases

European Respiratory Review ◽

10.1183/16000617.0076-2018 ◽

2018 ◽

Vol 27 (150) ◽

pp. 180076 ◽

Cited By ~ 72

Author(s):

Vincent Cottin ◽

Nikhil A. Hirani ◽

David L. Hotchkin ◽

Anoop M. Nambiar ◽

Takashi Ogura ◽

...

Keyword(s):

Interstitial Pneumonia ◽

Lung Diseases ◽

Hypersensitivity Pneumonitis ◽

Early Death ◽

Occupational Exposures ◽

Interstitial Lung Diseases ◽

Lung Function Decline ◽

Nonspecific Interstitial Pneumonia ◽

Immunomodulatory Therapies

Although these conditions are rare, a proportion of patients with interstitial lung diseases (ILDs) may develop a progressive-fibrosing phenotype. Progressive fibrosis is associated with worsening respiratory symptoms, lung function decline, limited response to immunomodulatory therapies, decreased quality of life and, potentially, early death. Idiopathic pulmonary fibrosis may be regarded as a model for other progressive-fibrosing ILDs. Here we focus on other ILDs that may present a progressive-fibrosing phenotype, namely idiopathic nonspecific interstitial pneumonia, unclassifiable idiopathic interstitial pneumonia, connective tissue disease-associated ILDs (e.g.rheumatoid arthritis-related ILD), fibrotic chronic hypersensitivity pneumonitis, fibrotic chronic sarcoidosis and ILDs related to other occupational exposures. Differential diagnosis of these ILDs can be challenging, and requires detailed consideration of clinical, radiological and histopathological features. Accurate and early diagnosis is crucial to ensure that patients are treated optimally.

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Lung cysts in chronic paracoccidioidomycosis

Jornal Brasileiro de Pneumologia ◽

10.1590/s1806-37132013000300015 ◽

2013 ◽

Vol 39 (3) ◽

pp. 368-372 ◽

Cited By ~ 5

Author(s):

Andre Nathan Costa ◽

Edson Marchiori ◽

Gil Benard ◽

Mariana Sponholz Araujo ◽

Bruno Guedes Baldi ◽

...

Keyword(s):

Differential Diagnosis ◽

Retrospective Analysis ◽

Interstitial Pneumonia ◽

Langerhans Cell Histiocytosis ◽

Lung Diseases ◽

Lung Parenchyma ◽

Langerhans Cell ◽

Lung Cysts ◽

Cystic Lung ◽

Lymphocytic Interstitial Pneumonia

On HRCT scans, lung cysts are characterized by rounded areas of low attenuation in the lung parenchyma and a well-defined interface with the normal adjacent lung. The most common cystic lung diseases are lymphangioleiomyomatosis, Langerhans cell histiocytosis, and lymphocytic interstitial pneumonia. In a retrospective analysis of the HRCT findings in 50 patients diagnosed with chronic paracoccidioidomycosis, we found lung cysts in 5 cases (10%), indicating that patients with paracoccidioidomycosis can present with lung cysts on HRCT scans. Therefore, paracoccidioidomycosis should be included in the differential diagnosis of cystic lung diseases.

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Primary cystic lung light chain deposition disease: a clinicopathologic entity derived from unmutated B cells with a stereotyped IGHV4-34/IGKV1 receptor

Blood ◽

10.1182/blood-2007-11-123596 ◽

2008 ◽

Vol 112 (5) ◽

pp. 2004-2012 ◽

Cited By ~ 23

Author(s):

Magali Colombat ◽

Hervé Mal ◽

Christiane Copie-Bergman ◽

Jacques Diebold ◽

Diane Damotte ◽

...

Keyword(s):

Lung Transplantation ◽

B Cell ◽

Light Chain ◽

Cell Clone ◽

Variable Region ◽

Amino Acid Identity ◽

Light Chain Deposition Disease ◽

Cystic Lung ◽

Deposition Disease ◽

Light Chain Deposition

Abstract We have recently described a new form of light chain deposition disease (LCDD) presenting as a severe cystic lung disorder requiring lung transplantation. There was no bone marrow plasma cell proliferation. Because of the absence of disease recurrence after bilateral lung transplantation and of serum-free light chain ratio normalization after the procedure, we hypothesized that monoclonal light chain synthesis occurred within the lung. The aim of this study was to look for the monoclonal B-cell component in 3 patients with cystic lung LCDD. Histologic examination of the explanted lungs showed diffuse nonamyloid κ light chain deposits associated with a mild lymphoid infiltrate composed of aggregates of small CD20+, CD5−, CD10− B lymphocytes reminiscent of bronchus-associated lymphoid tissue. Using polymerase chain reaction (PCR), we identified a dominant B-cell clone in the lung in the 3 studied patients. The clonal expansion of each patient shared an unmutated antigen receptor variable region sequence characterized by the use of IGHV4-34 and IGKV1 subgroups with heavy and light chain CDR3 sequences of more than 80% amino acid identity, a feature evocative of an antigen-driven process. Combined with clinical and biologic data, our results strongly argue for a new antigen-driven primary pulmonary lymphoproliferative disorder.

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Traumatic Pulmonary Pseudocyst Mimicking a Congenital Cystic Lung Disease

Case Reports in Pulmonology ◽

10.1155/2018/7269694 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3

Author(s):

Amjad Kanj ◽

Hussam Tabaja ◽

Ayman O. Soubani ◽

Nadim Kanj

Keyword(s):

Complete Resolution ◽

Lung Diseases ◽

Lower Lobe ◽

Cystic Lesions ◽

Rare Entity ◽

Congenital Pulmonary Airway Malformation ◽

Thoracic Imaging ◽

Cystic Lung ◽

Incorrect Diagnosis ◽

Congenital Cystic Lung Disease

Traumatic pulmonary pseudocyst (TPP) is a rare entity that occurs following a trauma to the chest. It usually presents as multiple cystic lesions on thoracic imaging. It is treated conservatively and tends to completely resolve after few months. In the absence of striking signs of trauma such as rib fractures, TPP can be mistaken for other cystic lung diseases. We present a case of TPP in a 17-year-old male who was seen for mild hemoptysis after falling off a cliff. The extent of his right lower lobe cystic lesions along with the lack of major signs of trauma led to an incorrect diagnosis of congenital pulmonary airway malformation. The patient was considered for lobectomy, which he refused. Imaging of the chest repeated one and three years later showed complete resolution of the lesions.

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Proteomic evidence of specific IGKV1-8 association with cystic lung light chain deposition disease

Blood ◽

10.1182/blood.2019898577 ◽

2019 ◽

Vol 133 (26) ◽

pp. 2741-2744 ◽

Cited By ~ 1

Author(s):

Mylène Camus ◽

Sandrine Hirschi ◽

Grégoire Prevot ◽

Marie-Pierre Chenard ◽

Hervé Mal ◽

...

Keyword(s):

Light Chain ◽

Cell Clone ◽

Tissue Samples ◽

Light Chain Deposition Disease ◽

Female Ratio ◽

Cystic Lung ◽

Deposition Disease ◽

Male Female Ratio ◽

Light Chain Deposition ◽

Systemic Form

Abstract We previously reported a new form of light chain deposition disease (LCDD) presenting as diffuse cystic lung disorder that differs from the usual systemic form with respect to patient age, the male/female ratio, the involved organs, and the hematologic characteristics. We also demonstrated that the light chains were produced by an intrapulmonary B-cell clone and that this clone shared a stereotyped antigen receptor IGHV4-34/IGKV1. However, we only analyzed 3 patients. We conducted a retrospective study including lung tissue samples from 24 patients with pulmonary LCDD (pLCDD) matched with samples from 13 patients with pulmonary κ light chain amyloidosis (pAL amyloidosis) used as controls. Mass spectrometry–based proteomics identified immunoglobulin κ peptides as the main protein component of the tissue deposits in all patients. Interestingly, in pLCDD, IGKV1 was the most common κ family detected (86.4%), and IGKV1-8 was overrepresented compared with pAL amyloidosis (75% vs 11.1%, P = .0033). Furthermore, IGKV1-8 was predominantly associated with a diffuse cystic pattern (94%) in pLCDD. In conclusion, the high frequency of IGKV1-8 usage in cystic pLCDD constitutes an additional feature arguing for a specific entity distinct from the systemic form that preferentially uses IGKV4-1.

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Mass Spectrometry–based Proteomic Analysis: A Good Diagnostic Tool for Cystic Lung Light Chain Deposition Disease

American Journal of Respiratory and Critical Care Medicine ◽

10.1164/rccm.201301-0071le ◽

2013 ◽

Vol 188 (3) ◽

pp. 404-405 ◽

Cited By ~ 9

Author(s):

Magali Colombat ◽

Sonia Holifanjaniaina ◽

François Guillonneau ◽

Herve Mal ◽

Sandrine Hirschi ◽

...

Keyword(s):

Mass Spectrometry ◽

Light Chain ◽

Diagnostic Tool ◽

Proteomic Analysis ◽

Light Chain Deposition Disease ◽

Cystic Lung ◽

Deposition Disease ◽

Light Chain Deposition

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The etiology of diffuse cystic lung diseases: an analysis of 1010 consecutive cases in a LAM clinic

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01905-2 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Han Cui ◽

Chongsheng Cheng ◽

Wenshuai Xu ◽

Xinlun Tian ◽

Yanli Yang ◽

...

Keyword(s):

Sjögren’S Syndrome ◽

Langerhans Cell Histiocytosis ◽

Sjögren's Syndrome ◽

Sjogren’S Syndrome ◽

Sjogren's Syndrome ◽

Langerhans Cell ◽

Light Chain Deposition Disease ◽

Cystic Lung ◽

Pulmonary Langerhans Cell Histiocytosis ◽

Sjögren‘S Syndrome

Abstract Background The differential diagnosis of diffuse cystic lung disease (DCLD) is a clinical challenge. We wish to analyze the distribution of the etiology of DCLD based on data from a single lymphangioleiomyomatosis (LAM) clinic. Methods All DCLD patients at the LAM Clinic of Peking Union Medical College Hospital between January 2006 and December 2019 were analyzed. Information on the demographic, clinical, radiological, and pathological features was collected. Results A total of 1010 patients with DCLD on CT scan were evaluated. A sum of 711(70.4%) patients were diagnosed with definite or probable LAM. Other diagnoses included Birt–Hogg–Dubé syndrome (46), Sjogren's syndrome (38), pulmonary Langerhans cell histiocytosis (14), lung tumors (3), Castleman disease (2), antineutrophil cytoplasmic antibody-associated vasculitis (2), systemic lupus erythematosus (1), Marfan syndrome (1), amyloidosis (1), congenital cystic adenomatoid malformation of the lung (1), and pleuroparenchymal fibroelastosis (1). In the 38 patients diagnosed with Sjogren's syndrome, 2 were diagnosed with light-chain deposition disease, 2 were diagnosed with amyloidosis and 1 was diagnosed with lymphocytic interstitial pneumonia. One hundred and eighty-nine patients (18.7%) were undiagnosed. Lung biopsy results were available in 27 patients in the undiagnosed DCLD group but did not provide a diagnosis. Conclusion Approximately 70% of DCLD patients in our LAM clinic had LAM. The common differential diagnoses included Birt–Hogg–Dubé syndrome, Sjogren’s syndrome, and pulmonary Langerhans cell histiocytosis. Detailed clinical information and laboratory, genetic, and pathological investigations provide correct diagnoses in most patients with DCLD.

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