Genetic and phenotypic characterisation of <scp>HIV</scp>‐associated aggressive B‐cell <scp>non‐Hodgkin</scp> lymphomas, which do not occur specifically in this population: diagnostic and prognostic implications

Baptista, Maria João; Tapia, Gustavo; Muñoz‐Marmol, Ana‐María; Muncunill, Josep; García, Olga; Montoto, Silvia; Gribben, John G.; Calaminici, Maria; Martı́nez, Antonio; Veloza, Luis; Martínez‐Trillos, Alejandra; Aldámiz, Teresa; Menárguez, Javier; Terol, Ma José; Ferrández, Antonio; Alcoceba, Miguel; Briones, Javier; González‐Barca, Eva; Climent, Fina; Muntañola, Ana; Moraleda, J.; Provencio, Mariano; Abella, Eugènia; Colomo, Lluı́s; García‐Ballesteros, Carlos; Garcia‐Caro, Montserrat; Sancho, Juan‐Manuel; Ribera, Josep‐María; Mate, José-Luís; Navarro, José-Tomás

doi:10.1111/his.14798

Cited by 5 publications

(12 citation statements)

References 58 publications

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“…Of note in DLBCL cases, the frequency of BCL6 rearrangement (21%) was similar to those described in patients without HIV infection, whereas BCL2 rearrangement was infrequent (2.6%), with an incidence substantially lower than that reported in immunocompetent patients, in line with the study of Baptista et al. 25 …”

Section: Discussionsupporting

confidence: 87%

“…In the more recent cART era, only few data are available on the incidence, clinical characteristics, and outcome of SHL and DHL/THL in the setting of HIV. 22 , 23 , 24 , 25 Our study aims to analyze HIV-associated BCL, comparing those with or without MYC genetic alteration, associated or not to BCL2 and BCL6 translocations, from clinical presentation to treatment choice and survival outcome, to add knowledge in a field with really scanty information.…”

Section: Discussionmentioning

confidence: 99%

“… 22 However, data regarding the prevalence and prognostic impact of MYC , BCL2 , and BCL6 rearrangements, and the overexpression of the respective proteins in patients with HIV infection with lymphoma are few and inconclusive. 23 , 24 , 25 Many questions are still unanswered. Do MYC rearrangements matter in HIV-associated large B-cell lymphomas (LBCLs) with or without BCL2 / BCL6 translocations?…”

Section: Introductionmentioning

confidence: 99%

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MYC rearrangements in HIV-associated large B-cell lymphomas: EUROMYC, a European retrospective study

Pagani,

Rusconi,

Dalla Pria

et al. 2024

Blood Advances

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Large B-cell lymphoma (LBCL) carrying MYC rearrangement, alone or together with BCL2 and/or BCL6 translocations, have shown a poor prognosis when treated with R-CHOP, in HIV- population. Scanty data are available on the prevalence and prognostic impact of MYC rearrangements in HIV-associated LBCL. We conducted a retrospective study to evaluate the clinical effect of MYC rearrangement in HIV-associated LBCL. We evaluated clinical characteristics, treatment received and outcome of LBCL in HIV+ patients with (MYC+) and without MYC rearrangement (MYC-). A total of 155 HIV+ patients who had received FISH analysis for MYC were enrolled in 11 European centres: 43 MYC+ and 112 MYC-. Within MYC+ patients 10 had double/triple hit lymphomas, and 33 had isolated MYC rearranegment (single hit lymphoma). MYC+ patients had more frequently advanced stage, >2 extranodal site at presentation, and higher proliferative index. There were no significant differences in overall survival and progression-free survival (PFS) between the two groups. However, MYC+ patients received more frequently intensive chemotherapy (44%) compared to (R)CHOP alone (35%) or infusional treatment (DA-EPOCH-R, R-CDE) (19%). Among MYC+ patients, those who received intensive chemotherapy achieved a better outcome compared to patients who received non intensive treatment (complete remission 84% vs 52%, p 0,028; 5-year PFS 66% vs 36%, p 0,021). Our retrospective results suggest that HIV-associated LBCL with MYC rearrangement could be considered for an intensive therapeutic approach whenever possible, while (R)CHOP seems to give inferior results in this subset of patients in terms of complete remission and PFS.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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MYC rearrangements in HIV-associated large B-cell lymphomas: EUROMYC, a European retrospective study

Pagani,

Rusconi,

Dalla Pria

et al. 2024

Blood Advances

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“…However, the predictive power of the molecular classification is uncertain, and some data suggested that it is not clinically relevant for prognosis in HIV-related DLBCL [ 40 ]. In contrast, most recent studies pointed out that HIV-related DLBCL cases with a non-germinal center phenotype tended to have a worse overall survival and progression-free survival than the cases with the germinal center phenotype [ 41 , 42 ].…”

Section: Pathological Characteristics and Etiopathogenesismentioning

confidence: 99%

Diffuse Large B-Cell Lymphoma in the HIV Setting

Huguet

Navarro

Moltó

et al. 2023

Cancers

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Despite the widespread use of combined antiretroviral therapy (cART) and the subsequent decrease in AIDS-defining cancers, HIV-related lymphomas remain a leading cause of morbidity and mortality in people with HIV (PWH). Diffuse large B-cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma (NHL) subtype in PWH. This lymphoma is a heterogeneous disease including morphological variants and molecular subtypes according to the cell of origin or the mutation profile. In the pre-cART era, treatment with standard-dose chemotherapy induced high rates of toxicity and outcomes were very poor. The introduction of cART and the incorporation of infection prophylaxis allowed the use of conventional intensive chemotherapy regimens used in the general population, such as R-CHOP or R-EPOCH. The use of cART during chemotherapy treatment was initially controversial due to the potential risk of adverse drug–drug interactions. However, the availability of current cART regimens with less potential to cause drug interactions and evidence that cART improves survival rates in NHL strongly support the use of cART in PWH with DLBCL. Consequently, interdisciplinary collaboration between HIV specialists and hemato-oncologists for the management of potential interactions and overlapping toxicities between antiretroviral and antineoplastic drugs is crucial for the optimal treatment of PWH with NHL.

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“…This peculiar 11q-gain/loss aberration has been described to be particularly frequent in posttransplant patients, who develop B-cell lymphomas with Burkitt-like morphology [ 28 ]. It has also been described in the setting of HIV infection [ 29 – 31 ].…”

Section: Introductionmentioning

confidence: 99%

Emerging entities: high-grade/large B-cell lymphoma with 11q aberration, large B-cell lymphoma with IRF4 rearrangement, and new molecular subgroups in large B-cell lymphomas. A report of the 2022 EA4HP/SH lymphoma workshop

Quintanilla-Martı́nez

Laurent

Soma

et al. 2023

Virchows Arch

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Emerging entities and molecular subgroups in large B-cell lymphomas (LBCLs) were discussed during the 2022 European Association for Haematopathology/Society for Hematopathology workshop in Florence, Italy. This session focused on newly recognized diseases and their diagnostic challenges. High-grade/large B-cell lymphoma with 11q aberration (HG/LBCL-11q) is defined by chromosome 11q-gains and telomeric loss. FISH analysis is recommended for the diagnosis. HG/LBCL-11q can occur in the setting of immunodeficiency, including ataxia-telangiectasia, and predominates in children. The morphological spectrum of these cases is broader than previously thought with often Burkitt-like morphology and coarse apoptotic bodies. It has a Burkitt-like immunophenotype (CD10+, BCL6+, BCL2−) but MYC expression is weak or negative, lacks MYC rearrangement, and is in contrast to Burkitt lymphoma 50% of the cases express LMO2. LBCL with IRF4 rearrangement (LBCL-IRF4) occurs mainly in the pediatric population but also in adults. LBCL-IRF4 has an excellent prognosis, with distinguishing molecular findings. IRF4 rearrangements, although characteristic of this entity, are not specific and can be found in association with other chromosomal translocations in other large B-cell lymphomas. Other molecular subgroups discussed included primary bone diffuse large B-cell lymphoma (PB-DLBCL), which has distinctive clinical presentation and molecular findings, and B-acute lymphoblastic leukemia (B-ALL) with IGH::MYC translocation recently segregated from Burkitt lymphoma with TdT expression. This latter disorder has molecular features of precursor B-cells, often tetrasomy 1q and recurrent NRAS and KRAS mutations. In this report, novel findings, recommendations for diagnosis, open questions, and diagnostic challenges raised by the cases submitted to the workshop will be discussed.

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Genetic and phenotypic characterisation of HIV‐associated aggressive B‐cell non‐Hodgkin lymphomas, which do not occur specifically in this population: diagnostic and prognostic implications

Cited by 5 publications

References 58 publications

MYC rearrangements in HIV-associated large B-cell lymphomas: EUROMYC, a European retrospective study

MYC rearrangements in HIV-associated large B-cell lymphomas: EUROMYC, a European retrospective study

Diffuse Large B-Cell Lymphoma in the HIV Setting

Emerging entities: high-grade/large B-cell lymphoma with 11q aberration, large B-cell lymphoma with IRF4 rearrangement, and new molecular subgroups in large B-cell lymphomas. A report of the 2022 EA4HP/SH lymphoma workshop

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