The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS

Abstract

ObjectivesThe latest revision of lymphoma’s World Health Organization classification describes the new provisional entity “Burkitt-like lymphoma with 11q aberration” (BLL, 11q) as lacking MYC rearrangement, but harboring the specific11q-gain/loss aberration. We report genetic characteristics of 11 lymphoma cases with this aberration.MethodsClassical cytogenetics, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism/array comparative genomic hybridization.ResultsThe 11q aberrations were described as duplication, inversion, and deletion. Array comparative genomic hybridization showed two types of duplication: bigger than 50 megabase pairs (Mbp) and smaller than 20 Mbp, which were associated with bulky tumor larger than 20 cm and amplification of the 11q23.3 region, including KMT2A. Six cases revealed a normal FISH status of MYC and were diagnosed as BLL,11q. Five cases showed MYC rearrangement and were diagnosed as Burkitt lymphoma (BL) or high-grade B-cell lymphoma, not otherwise specified (HGBL, NOS).ConclusionsThe 11q-gain/loss is not specific for BLL, 11q, but occurs recurrently in MYC-positive BL and MYC-positive HGBL.

Comprehensive histopathological diagnostics of aggressive B-cell lymphomas based on the updated criteria of the World Health Organisation’s 2017 classification

“…That characteristics may contribute to the differential diagnosis of BLL, 11q and BL [49]. The 11q aberrations in BLL, 11q (11q-gain/loss) were described as an inverted duplication of a part of the long arm of chromosome 11 with mono-or biallelic telomeric deletion of 11q ( Figure 6) [45,46,47,49]. Coincidence of duplication and deletion of 11q (11q23 and 11q24-qter, respectively) suggests a possibility of simultaneous up-regulation of oncogenes and down-regulation of tumour suppressor genes.…”

“…5). MYC-negative BLL,11q shows a number of clinico-pathological similarities to MYC-positive BL, but also harbour some significant differences in immunoprofile [1,45,46,47,48,49,50]. BLL,11q usually express CD43/LMO2/CD56 in IHC and CD16/CD56/CD38/CD45/CD8/CD43 in FCM.…”

“…The candidate oncogene is commonly up-regulated PAFAH1B2. FLI1 and ETS1, located in the region of deletion, are often down-regulated and/or mutated, and are postulated to be candidate tumour suppressor genes affected by this aberration [46,47]. The diagnostic algorithm for diagnosing BL and BLL, 11q, besides standard histopathological and immunohistochemical examination, incorporates flow cytometry with a broad panel of monoclonal antibodies as well as genetic analysis (conventional cytogenetic analysis with fluorescence in situ hybridisation and molecular techniques) [1,48].…”

“…Some cases with 11q aberration also have MYC rearrangement and are diagnosed as BL or high-grade B-cell lymphoma, not otherwise specified (HGBL, NOS). From the other point of view, the 11q-gain/loss are not exclusively specific for BLL, 11q [47]. Therefore, the conventional cytogenetic analysis by metaphase karyotyping is needed to provide correct BLL, 11q diagnosis (Table IV) [49].…”

Diagnosis of Lymphoid Lesions in Limited Samples

“…Reports on these cases are limited, but they behaved and responded to therapy like classic BL. 38 Nonhematopoietic differential diagnosis for cases with very high mitotic/apoptotic activity typically includes high-grade neuroendocrine carcinomas (small cell, Merkel). Expression of sIg by FCM excludes B-lymphoblastic lymphoma/leukemia because immunoglobulin genes are in the germline configuration in B lymphoblasts.…”