Large B-cell lymphoma with IRF4 gene rearrangements: Differences in clinicopathologic, immunophenotypic and cytogenetic features between pediatric and adult patients

Berg, Holly E; Peterson, Jess F.; Lee, Hee Eun; McPhail, Ellen D.

doi:10.1016/j.humpath.2022.10.011

Cited by 14 publications

(21 citation statements)

References 7 publications

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“…Cases with an unusual presentation have been described, such as the lung, thyroid and intestinal tract, but to date we did not find in the literature any case with a mediastinal presentation 1,5–8 …”

Section: Discussionmentioning

confidence: 79%

“…1,3 Cases with an unusual presentation have been described, such as the lung, thyroid and intestinal tract, but to date we did not find in the literature any case with a mediastinal presentation. 1,[5][6][7][8] Rare cases have also been described to present in advanced clinical stages (Stage III). 6 The atypical clinical presentation of our case led us to consider other differential diagnoses, namely, a Hodgkin's lymphoma and a primary mediastinal large B-cell lymphoma (PMLBCL).…”

Section: Discussionmentioning

confidence: 99%

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Large B‐cell lymphoma with IRF4 rearrangement—Fine needle biopsy—Report of a case with an atypical presentation

Barroca

Marques

Soares

2023

Diagnostic Cytopathology

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We describe a case of a 17‐year‐old girl with a mediastinal large B‐cell lymphoma with IRF4 rearrangement (LBCL‐IRF4r) with an atypical clinical presentation in an unusual location, diagnosed by fine needle biopsy, flow cytometry and FISH. We review the literature and discuss the differential diagnosis, clinical presentation, cytological and immunophenotypical characteristics of this unique case that raises very interesting questions regarding this new entity.

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Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

Large B‐cell lymphoma with IRF4 rearrangement—Fine needle biopsy—Report of a case with an atypical presentation

Barroca

Marques

Soares

2023

Diagnostic Cytopathology

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“…Although IRF4 rearrangement is a defining feature of this special type of lymphoma with relatively favorable prognosis, it should be noted such a molecular alteration is not specific for the entity. Since it has been found that IRF4 rearrangement can occur in some other aggressive B‐cell lymphomas as well, especially those which are associated with MYC or BCL2 rearrangement, mainly in adults 5,13 . We thus selected a large cohort of DLBCL cases occurring in youth with relatively early‐stage disease confined to the head and neck region, to compare the clinicopathologic features of LBCL, IRF4 + and IRF4 − ones, and to observe the prognostic implication of IRF4 rearrangement in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…It is noteworthy that a small fraction of LBCL, IRF4+ cases may also harbor BCL6 rearrangement, most of which are young adult patients with Waldeyer ring, cervical lymph node, or bowel involvement. 1,5,[13][14][15] On the other hand, some LBCL cases with concurrent IRF4 and BCL2 rearrangement have been recognized as well, which frequently affects other sites of older adults, and is often morphologically atypical, and may thus represent DLBCL, NOS, rather than typical LBCL, IRF4+. 13 The differential diagnosis of LBCL, IRF4+ includes first pediatric-type follicular lymphoma (PTFL), which also affects children and adolescence predominantly, and present similarly with a follicular lymphoid proliferation composed of large neoplastic cells.…”

Section: Complete Remissionmentioning

confidence: 99%

IRF4 rearrangement may predict favorable prognosis in children and young adults with primary head and neck large B‐cell lymphoma

Jiang

Xue

et al. 2023

Cancer Medicine

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Purpose Large B‐cell lymphoma with IRF4 rearrangement (LBCL, IRF4+) has been recently recognized as a specific entity that is frequently associated with young age and favorable prognosis. However, whether the good outcome of the disease is due to IRF4+ or other factors remains obscure. We thus analyzed 100 young patients with primary head and neck LBCL to see the clinicopathologic correlates of IRF4+. Methods The histopathology, immunophenotype, IRF4 status of the tumors, and clinical data were reviewed. Results Twenty‐one tumors were diagnosed as LBCL, IRF4+, which were more frequently associated with a follicular growth pattern, medium‐sized blastoid cytology, germinal center B‐cell‐like, and CD5+ phenotype, compared with IRF4− ones. While most of the patients received chemotherapy with or without radiation, eight IRF4+ patients received mere surgical resection of the tumor and exhibited excellent outcome. IRF4+ cases featured a significantly higher complete remission rate, and better survivals compared with IRF4− ones. Multivariate analysis confirmed IRF4+ correlates with a better survival. Conclusion Our work confirmed the unique clinicopathologic features of LBCL, IRF4+, and disclosed for the first time the independent favorable prognostic impact of IRF4+. These findings may further unravel the heterogeneity of LBCL occurring in youth, and aid in risk stratification and tailoring the therapeutic strategy.

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“…The essential diagnostic criteria included in WHO‐HAEM5 are ‘intermediate or large cell morphology and follicular and/or diffuse growth pattern’, ‘mature B‐cell phenotype with co‐expression of BCL‐6 and MUM1’ and ‘IRF4 translocation’, with a desirable diagnostic criterion of ‘absence of BCL2 and MYC gene rearrangement’ 2 . Berg et al 4 . suggest that the site and morphology differs in older adults.…”

Section: Introductionmentioning

confidence: 99%

Clinical boundaries in adult cases of large B cell lymphoma with IRF4 rearrangement

Maguire,

Harvey,

Jones

et al. 2023

Histopathology

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AimsLarge B‐cell lymphoma with IRF4 rearrangement (LBCL‐IRF4) is a recently described entity included in the revised 4th edition of the WHO Classification of Haematolymphoid Tumours (2017). Here we highlight the difficulties in classification of those cases which arise in adult patients with unusual clinical features.ResultsWe present three cases with morphological and immunohistochemical features consistent with large B‐cell lymphoma arising in adult patients, which were found to have isolated IRF4 rearrangements on FISH analysis. Each patient presented with advanced‐stage disease and had a history of immunosuppression; clinical features that are not typical of LBCL‐IRF4 and which make the distinction from DLBCL, not otherwise specified (NOS) challenging.ConclusionWe propose that the clinical boundaries of LBCL‐IRF4 arising in adult patients need further delineation to allow distinction from true cases of DLBCL, NOS.

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Large B-cell lymphoma with IRF4 gene rearrangements: Differences in clinicopathologic, immunophenotypic and cytogenetic features between pediatric and adult patients

Cited by 14 publications

References 7 publications

Large B‐cell lymphoma with IRF4 rearrangement—Fine needle biopsy—Report of a case with an atypical presentation

Large B‐cell lymphoma with IRF4 rearrangement—Fine needle biopsy—Report of a case with an atypical presentation

IRF4 rearrangement may predict favorable prognosis in children and young adults with primary head and neck large B‐cell lymphoma

Clinical boundaries in adult cases of large B cell lymphoma with IRF4 rearrangement

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