复合套细胞淋巴瘤伴隐型ins(11;2)(q13;p11.2;p11.2)/IGK::CCND1和淋巴浆细胞淋巴瘤伴MYD88 L265P突变

IF 1.4 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics Pub Date : 2025-03-04 DOI:10.1016/j.cancergen.2025.02.012

Fumiyo Maekawa , Masahiko Hayashida , Kayo Takeoka , Yoshinari Chagi , Riku Takahashi , Chiyuki Kishimori , Shinichi Kotani , Takashi Akasaka , Shinichi Sakamoto , Shinji Sumiyoshi , Hitoshi Ohno

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引用次数: 0

摘要

一位80多岁的女性，表现为全身性淋巴结病，骨髓（BM）受累和白血病表现。淋巴结活检显示典型的套细胞淋巴瘤（MCL）， CD5+和免疫球蛋白μ+δ+/λ+免疫表型，伴有未突变的IGHV。BM不仅浸润MCL，还浸润另一种CD5−和μbright+δ+/κ+的b细胞肿瘤，与血清和尿液中的M蛋白一致，伴有突变的IGHV。由于后一种淋巴瘤成分携带MYD88 L265P突变，本病例为MCL和淋巴浆细胞性淋巴瘤的复合病例。下一代测序显示IGK增强子序列隐插入CCND1主要易位簇中，解释了免疫组织化学识别的MCL细胞中CCND1的表达。复合性淋巴瘤是罕见的，但正确的诊断是必要的，因为目前每种成分都有有效的治疗方法。

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Composite mantle cell lymphoma with cryptic ins(11;2)(q13;p11.2p11.2)/IGK::CCND1 and lymphoplasmacytic lymphoma with MYD88 L265P mutation

A woman in her 80 s presented with generalized lymphadenopathy, bone marrow (BM) involvement, and leukemic manifestation. Lymph node biopsy revealed typical histopathology of mantle cell lymphoma (MCL) and the CD5⁺ and immunoglobulin μ⁺δ⁺/λ⁺ immunophenotype, with unmutated IGHV. BM was infiltrated with not only MCL but also another B-cell tumor that was CD5⁻ and μ^bright+δ⁺/κ⁺, being consistent with M proteins in the serum and urine, with mutated IGHV. As the latter lymphoma component carried the MYD88 L265P mutation, this case represented a composite of MCL and lymphoplasmacytic lymphoma. Next-generation sequencing revealed a cryptic insertion of IGK enhancer sequences into the CCND1-major translocation cluster, accounting for CCND1 expression in MCL cells recognized by immunohistochemistry. Composite lymphoma is rare, but a correct diagnosis is required because effective treatments for each component are now available.

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来源期刊

Cancer Genetics ONCOLOGY-GENETICS & HEREDITY

CiteScore

3.20

自引率

5.30%

发文量

167

审稿时长

27 days

期刊介绍： The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.