Lymphangioleiomyomatosis and Other Cystic Lung Diseases

Hansell D.M. Bankier A.A. MacMahon H. et al.

Fleischner Society: glossary of terms for thoracic imaging.

Radiology. 246: 697-722

Significance of wall thickness in solitary cavities of the lung: a follow-up study.

AJR Am J Roentgenol. 140: 473-474Moss J. Avila N.A. Barnes P.M. et al.

Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex.

Am J Respir Crit Care Med. 164: 669-671Ryu J.H. Moss J. Beck G.J. et al.

The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment.

Am J Respir Crit Care Med. 173: 105-111Han M.K. Tyburczy M.E. Darling T.N. et al.

Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.

Ann Am Thorac Soc. 14: 1227-1229Ogorek B. Hamieh L. Lasseter K. et al.

Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis.

Eur Respir J. 54https://doi.org/10.1183/13993003.00938-2019

European Chromosome 16 Tuberous Sclerosis C. Identification and characterization of the tuberous sclerosis gene on chromosome 16.

Cell. 75: 1305-1315van Slegtenhorst M. de Hoogt R. Hermans C. et al.

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Science. 277: 805-808Henske E.P. McCormack F.X.

Lymphangioleiomyomatosis - a wolf in sheep's clothing.

J Clin Invest. 122: 3807-3816Krymskaya V.P. McCormack F.X.

Lymphangioleiomyomatosis: A Monogenic Model of Malignancy.

Annu Rev Med. 68: 69-83Kumasaka T. Seyama K. Mitani K. et al.

Lymphangiogenesis-mediated shedding of LAM cell clusters as a mechanism for dissemination in lymphangioleiomyomatosis.

Am J Surg Pathol. 29: 1356-1366Ando H. Ogawa M. Watanabe Y. et al.

Lymphangioleiomyoma of the Uterus and Pelvic Lymph Nodes: A Report of 3 Cases, Including the Potentially Earliest Manifestation of Extrapulmonary Lymphangioleiomyomatosis.

Int J Gynecol Pathol. 39: 227-232Guo M. Yu J.J. Perl A.K. et al.

Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell.

Am J Respir Crit Care Med. 202: 1373-1387Tobino K. Johkoh T. Fujimoto K. et al.

Computed tomographic features of lymphangioleiomyomatosis: evaluation in 138 patients.

Eur J Radiol. 84: 534-541Avila N.A. Dwyer A.J. Rabel A. et al.

Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features.

Radiology. 242: 277-285Young L.R. Inoue Y. McCormack F.X.

Diagnostic potential of serum VEGF-D for lymphangioleiomyomatosis.

N Engl J Med. 358: 199-200Young L. Lee H.S. Inoue Y. et al.

Serum VEGF-D a concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial.

Lancet Respir Med. 1: 445-452Yu J.J. Robb V.A. Morrison T.A. et al.

Estrogen promotes the survival and pulmonary metastasis of tuberin-null cells.

Proc Natl Acad Sci U S A. 106: 2635-2640Prizant H. Sen A. Light A. et al.

Uterine-specific loss of Tsc2 leads to myometrial tumors in both the uterus and lungs.

Mol Endocrinol. 27: 1403-1414Prizant H. Taya M. Lerman I. et al.

Estrogen maintains myometrial tumors in a lymphangioleiomyomatosis model.

Endocr Relat Cancer. 23: 265-280Liu H.J. Lizotte P.H. Du H. et al.

TSC2-deficient tumors have evidence of T cell exhaustion and respond to anti-PD-1/anti-CTLA-4 immunotherapy.

JCI Insight. 3https://doi.org/10.1172/jci.insight.98674Maisel K. Merrilees M.J. Atochina-Vasserman E.N. et al.

Immune Checkpoint Ligand PD-L1 Is Upregulated in Pulmonary Lymphangioleiomyomatosis.

Am J Respir Cell Mol Biol. 59: 723-732Gupta N. Lee H.S. Ryu J.H. et al.

The NHLBI LAM Registry: Prognostic Physiologic and Radiologic Biomarkers Emerge From a 15-Year Prospective Longitudinal Analysis.

Chest. 155: 288-296Johnson S.R. Tattersfield A.E.

Clinical experience of lymphangioleiomyomatosis in the UK.

Thorax. 55: 1052-1057Almoosa K.F. Ryu J.H. Mendez J. et al.

Management of pneumothorax in lymphangioleiomyomatosis: effects on recurrence and lung transplantation complications.

Chest. 129: 1274-1281Gupta N. Finlay G.A. Kotloff R.M. et al.

Lymphangioleiomyomatosis Diagnosis and Management: High-Resolution Chest Computed Tomography, Transbronchial Lung Biopsy, and Pleural Disease Management. An Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guideline.

Am J Respir Crit Care Med. 196: 1337-1348Moua T. Olson E.J. Jean H.C. et al.

Resolution of chylous pulmonary congestion and respiratory failure in lymphangioleiomyomatosis with sirolimus therapy.

Am J Respir Crit Care Med. 186: 389-390Brook-Carter P.T. Peral B. Ward C.J. et al.

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.

Nat Genet. 8: 328-332Avila N.A. Kelly J.A. Chu S.C. et al.

Lymphangioleiomyomatosis: abdominopelvic CT and US findings.

Radiol. 216: 147-153David M. Hansell D.L. Page McAdams H. Alexander A.B.

Imaging of diseases of the chest.

5th edition. MOSBY, Elsevier, Carrington C.B. Cugell D.W. Gaensler E.A. et al.

Lymphangioleiomyomatosis. Physiologic-pathologic-radiologic correlations.

Am Rev Respir Dis. 116: 977-995Raoof S. Bondalapati P. Vydyula R. et al.

Cystic Lung Diseases: Algorithmic Approach.

Chest. 150: 945-965

AL K. Katzenstein and Askin’s surgical pathology of non-neoplastic lung disease. 1997;(3rd Edition).

Bonetti F. Chiodera P.L. Pea M. et al.

Transbronchial biopsy in lymphangiomyomatosis of the lung. HMB45 for diagnosis.

Am J Surg Pathol. 17: 1092-1102Miller W.T. Cornog Jr., J.L. Lymphangiomyomatosis Sullivan MA.

A clinical-roentgenologic-pathologic syndrome.

Am J Roentgenol Radium Ther Nucl Med. 111: 565-572Rappaport D.C. Weisbrod G.L. Herman S.J. et al.

Pulmonary lymphangioleiomyomatosis: high-resolution CT findings in four cases.

AJR Am J Roentgenol. 152: 961-964Muller N.L. Chiles C. Kullnig P.

Pulmonary lymphangiomyomatosis: correlation of CT with radiographic and functional findings.

Radiol. 175: 335-339McCormack F.X. Inoue Y. Moss J. et al.

Efficacy and safety of sirolimus in lymphangioleiomyomatosis.

N Engl J Med. 364: 1595-1606Taveira-DaSilva A.M. Hathaway O. Stylianou M. et al.

Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus.

Ann Intern Med. 154 (): 797-805Bissler J.J. Kingswood J.C. Radzikowska E. et al.

Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial.

Nephrol Dial Transpl. 31: 111-119 ()Hornstein O.P. Knickenberg M.

Perifollicular fibromatosis cutis with polyps of the colon--a cutaneo-intestinal syndrome sui generis.

Arch Dermatol Res (1975). 253: 161-175Birt A.R. Hogg G.R. Dube W.J.

Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.

Arch Dermatol. 113: 1674-1677Daccord C. Good J.M. Morren M.A. et al.

Birt-Hogg-Dube syndrome.

Eur Respir Rev. 29https://doi.org/10.1183/16000617.0042-2020Khoo S.K. Bradley M. Wong F.K. et al.

Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

Oncogene. 20: 5239-5242Nickerson M.L. Warren M.B. Toro J.R. et al.

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome.

Cancer Cell. 2: 157-164Schmidt L.S. Nickerson M.L. Warren M.B. et al.

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome.

Am J Hum Genet. 76: 1023-1033Pavlovich C.P. Grubb 3rd, R.L. Hurley K. et al.

Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome.

J Urol. 173: 1482-1486Nahorski M.S. Lim D.H. Martin L. et al.

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

J Med Genet. 47: 385-390Mota-Burgos A. Acosta E.H. Marquez F.V. et al.

Birt-Hogg-Dube syndrome in a patient with melanoma and a novel mutation in the FCLN gene.

Int J Dermatol. 52: 323-326Lindor N.M. Kasperbauer J. Lewis J.E. et al.

Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors.

Hered Cancer Clin Pract. 10: 13Gupta N. BY Sunwoo Kotloff R.M.

Birt-Hogg-Dube Syndrome.

Clin Chest Med. 37: 475-486Tong Y. Schneider J.A. Coda A.B. et al.

Birt-Hogg-Dube Syndrome: A Review of Dermatological Manifestations and Other Symptoms.

Am J Clin Dermatol. 19: 87-101Furuya M. Tanaka R. Koga S. et al.

Pulmonary cysts of Birt-Hogg-Dube syndrome: a clinicopathologic and immunohistochemical study of 9 families.

Am J Surg Pathol. 36: 589-600Escalon J.G. Richards J.C. Koelsch T. et al.

Isolated Cystic Lung Disease: An Algorithmic Approach to Distinguishing Birt-Hogg-Dube Syndrome, Lymphangioleiomyomatosis, and Lymphocytic Interstitial Pneumonia.

AJR Am J Roentgenol. 19: 1-5Toro J.R. Pautler S.E. Stewart L. et al.

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome.

Am J Respir Crit Care Med. 175: 1044-1053Gupta N. Seyama K. McCormack F.X.

Pulmonary manifestations of Birt-Hogg-Dube syndrome.

Fam Cancer. 12: 387-396Hu X. Cowl C.T. Baqir M. et al.

Air travel and pneumothorax.

Chest. 145: 688-694Gupta N. Vassallo R. Wikenheiser-Brokamp K.A. et al.

Diffuse Cystic Lung Disease. Part II.

Am J Respir Crit Care Med. 192: 17-29Stamatakis L. Metwalli A.R. Middelton L.A. et al.

Diagnosis and management of BHD-associated kidney cancer.

Fam Cancer. 12: 397-402Benhammou J.N. Vocke C.D. Santani A. et al.

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dube syndrome.

Genes Chromosomes Cancer. 50: 466-477Cha S.I. Fessler M.B. Cool C.D. et al.

Lymphoid interstitial pneumonia: clinical features, associations and prognosis.

Eur Respir J. 28: 364-369Swigris J.J. Berry G.J. Raffin T.A. et al.

Lymphoid interstitial pneumonia: a narrative review.

Chest. 122: 2150-2164Cosgrove G.P.F.M. Schwarz M.I.

Lymphoplasmacytic infiltrations of the lung. Interstitial lung diseases.

4th edition. BC Decker, Hamilton, Canada

Wick La. Practical pulmonary pathology. 2011.

Julsrud P.R. Brown L.R. Li C.Y. et al.

Pulmonary processes of mature-appearing lymphocytes: pseudolymphoma, well-differentiated lymphocytic lymphoma, and lymphocytic interstitial pneumonitis.

Radiology. 127: 289-296Strimlan C.V. Rosenow 3rd, E.C. Divertie M.B. et al.

Pulmonary manifestations of Sjögren's syndrome.

Chest. 70: 354-361Strimlan C.V. Rosenow 3rd, E.C. Weiland L.H. et al.

Lymphocytic interstitial pneumonitis. Review of 13 cases.

Ann Intern Med. 88: 616-621https://doi.org/10.7326/0003-4819-88-5-616Ichikawa Y. Kinoshita M. Koga T. et al.

Lung cyst formation in lymphocytic interstitial pneumonia: CT features.

J Comput Assist Tomogr. 18: 745-748Silva C.I. Flint J.D. Levy R.D. et al.

Diffuse lung cysts in lymphoid interstitial pneumonia: high-resolution CT and pathologic findings.

J Thorac Imaging. 21: 241-244Johkoh T. Muller N.L. Pickford H.A. et al.

Lymphocytic interstitial pneumonia: thin-section CT findings in 22 patients.

Radiology. 212: 567-572Johkoh T. Ichikado K. Akira M. et al.

Lymphocytic interstitial pneumonia: follow-up CT findings in 14 patients.

J Thorac Imaging. 15: 162-167Zhu C. Hu J. Wu J. et al.

Transformation of lymphoid interstitial pneumonia (LIP) into malignant lymphoma in patients with Sjögren's syndrome: a case report and literature review.

J Cardiothorac Surg. 17: 79Carsons S.E. Vivino F.B. Parke A. et al.

Treatment Guidelines for Rheumatologic Manifestations of Sjögren's Syndrome: Use of Biologic Agents, Management of Fatigue, and Inflammatory Musculoskeletal Pain.

Arthritis Care Res (Hoboken). 69: 517-527

Non-neoplastic pulmonary lymphoid lesions.

Thorax. 56: 964-971Ravichandran S. Lachmann H.J. Wechalekar A.D.

Epidemiologic and Survival Trends in Amyloidosis, 1987-2019.

N Engl J Med. 382: 1567-1568

Secondary, AA, Amyloidosis.

Rheum Dis Clin North Am. 44: 585-603Pozzi C. D'Amico M. Fogazzi G.B. et al.

Light chain deposition disease with renal involvement: clinical characteristics and prognostic factors.

Am J Kidney Dis. 42: 1154-1163Zamora A.C. White D.B. Sykes A.M. et al.

Amyloid-associated Cystic Lung Disease.

Chest. 149: 1223-1233Lantuejoul S. Moulai N. Quetant S. et al.

Unusual cystic presentation of pulmonary nodular amyloidosis associated with MALT-type lymphoma.

Eur Respir J. 30: 589-592Colombat M. Stern M. Groussard O. et al.

Pulmonary cystic disorder related to light chain deposition disease.

Am J Respir Crit Care Med. 173: 777-780Travis W.D. Borok Z. Roum J.H. et al.

Pulmonary Langerhans cell granulomatosis (histiocytosis X). A clinicopathologic study of 48 cases.

Am J Surg Pathol. 17: 971-986Howarth D.M. Gilchrist G.S. Mullan B.P. et al.

Langerhans cell histiocytosis: diagnosis, natural history, management, and outcome.

Cancer. 85: 2278-2290

Histiocytosis X in the lung.

Hum Pathol. 14: 847-856Vassallo R. Ryu J.H. Colby T.V. et al.

Pulmonary Langerhans'-cell histiocytosis.

N Engl J Med. 342: 1969-1978Brauner M.W. Grenier P. Tijani K. et al.

Pulmonary Langerhans cell histiocytosis: evolution of lesions on CT scans.

Radiology. 204: 497-502

Practical pulmonary pathology: a diagnostic approach.

3rd edition. Elsevier, Philadelphia, PABenattia A. Bugnet E. Walter-Petrich A. et al.

Long-term outcomes of adult pulmonary Langerhans cell histiocytosis: a prospective cohort.

Eur Respir J. 59https://doi.org/10.1183/13993003.01017-2021Gupta N. Vassallo R. Wikenheiser-Brokamp K.A. et al.

Diffuse Cystic Lung Disease. Part I.

Am J Respir Crit Care Med. 191: 1354-1366Heritier S. Emile J.F. Barkaoui M.A. et al.

BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy.

J Clin Oncol. 34: 3023-3030Diamond E.L. Subbiah V. Lockhart A.C. et al.

Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study.

JAMA Oncol. 4: 384-388Gupta N. Meraj R. Tanase D. et al.

Accuracy of chest high-resolution computed tomography in diagnosing diffuse cystic lung diseases.

Eur Respir J. 46: 1196-1199

Comments (0)

No login
gif