Hematolymphoid tumors of the lung

2024-10-30   Paola Dal Cin, PhD 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)

Keywords
Extranodal MALT lymphoma,Primary pulmonary DLBC, Lymphomatoid granulomatosis,Erdheim-Chester disease ,Langerhans cell histiocytosis

Classification

Definition

Secondary involvement of hematolymphoid disorders is much more common than primary involvement in the lung.   Primary lymphoid proliferations of the lung are of B-cell lineage e.g. pulmonary MALT lymphoma, pulmonary DLBCL and lymphomatoid granulomatosis. 1-3 Extranodal MALT lymphoma represents the most common type of primary lymphoma of the lung, but Helicobacter pylori has not been identified in pulmonary MALT lymphomas. 4  Primary pulmonary DLBCL are rare, and no specific genetic alterations were reported, so far.  Lymphomatoid granulomatosis is an EBV-associated B-cell lymphoproliferative disorder. Vemurafenib had prolonged efficacy in patients with pulmonary Erdheim-Chester disease and Langerhans cell histiocytosis  since both carrying BRAF V600–mutant.5

Hematolymphoid tumors of the lung
Pulmonary MALT lymphoma Extranodal MALT lymphoma is the most common type of primary lymphoma of the lung, but Helicobacter pylori has not been identified in pulmonary MALT. 4 The most common cytogenetic abnormality in the lung is the t(11;18)(q21;q21)/ BIRC3::MALT1, follow by t(14;18)(q32;q21)/IGH::MALT1 ; t(1;14)(p22;q32)/ IGH::BCL10 and trisomies 3 and 18 (even not diagnostic ). Mutations of POT1,TET2, TNFAIP3, TNFRSF14 and TBL1XR1 , and rarely MYD88 were also observed in the lung .6 
Primary pulmonary DLBCLLitle is known about other genetic abnormalities occurring specifically in primary pulmonary DLBCL.
Lymphomatoid granulomatosis EBV-associated B-cell lymphoproliferative disorder. 7
Intravascular large B-cell lymphoma of the lung (IVLBCL) The most frequent mutation was PIM1 (60%) , follow by MYD88 L265P and CD79B,with both later mutations detected concomitantly. Other less recurrent mutations were in IRF4 , TMEM30A , BTG2 , and ETV6. 8
Pulmonary Langerhans Cell Histiocytosis (LCH) The BRAF V 600E , MAP2K1 mutation/deletion and BRAF deletions are the main MAPK pathway alterations in these lesions. Other other MAPK molecular alterations have been also identiied e.g.,NRAS,KRAS,ARAF , MAP3K ,and MAP3K8. 9,10
Pulmonary Erdheim-Chester disease(ECD)The BRAF V 600E muatition is also the main MAPK pathway alteration in these lesions , followed by MAP2K1, KRAS or NRAS mutations, and very rare BRAF deletions, MAP3K1amp, ARAF mutations. 11 Activating PIK3CA mutations have been also found.12

Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1286097722017Lymphoproliferative Disorders of the Lung.Borie R et al
2324442462020Primary Pulmonary B-cell Lymphoma.Kelemen K et al
3334992582021Primary Pulmonary B-Cell Lymphoma: A Review and Update.Sanguedolce F et al
4261528512016A retrospective international study on primary extranodal marginal zone lymphoma of the lung (BALT lymphoma) on behalf of International Extranodal Lymphoma Study Group (IELSG).Sammassimo S et al
5291882842018Vemurafenib 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.Diamond EL et al
6350083402021Recent Advances in the Genetic of MALT Lymphomas.Rodríguez-Sevilla JJ et al
7321075392020Pathobiology and treatment of lymphomatoid granulomatosis, a rare EBV-driven disorder.Melani C et al
8362217962023Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.Gonzalez-Farre B et al
9337634312020Update on Pulmonary Langerhans Cell Histiocytosis.Radzikowska E et al
10374104832023Pulmonary Langerhans cell histiocytosis - an update on pathogenesis and treatment.Jouenne F et al
11321075332020Erdheim-Chester disease.Haroche J et al
12251502932014Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease.Emile JF et al

Citation

Paola Dal Cin

Hematolymphoid tumors of the lung

Atlas Genet Cytogenet Oncol Haematol. 2024-10-30

Online version: http://atlasgeneticsoncology.org/solid-tumor/209282