Details

Autor(en) / Beteiligte

• Quesada, Andres E.
• Hu, Shimin
• Li, Shaoying
• Toruner, Gokce A.
• Wei, Qing
• Loghavi, Sanam
• Ok, Chi Young
• Jain, Preetesh
• Thakral, Beenu
• Nwogbo, O. Valentine
• Kim, Do
• Iyer, Swaminathan P.
• You, M. James
• Medeiros, L. Jeffrey
• Tang, Guilin

Titel

Optical genomic mapping is a helpful tool for detecting CCND1 rearrangements in CD5-negative small B-cell lymphoma: Two cases of leukemic non-nodal mantle cell lymphoma

Ist Teil von

• Human pathology, 2024-02, Vol.144, p.71-76

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2024

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Optical genome mapping (OGM) is a new DNA-based technology which provides comprehensive examination of the entire genome. We report two patients who presented with splenomegaly and leukocytosis with lymphocytosis including villous lymphocytes. Neither patient had lymphadenopathy. Bone marrow evaluation showed involvement by small B-cell lymphoma in a sinusoidal and interstitial distribution, and immunophenotypic analysis showed that the neoplastic cells were positive for B-cell markers and cyclin D1 but were negative for SOX11 and CD5. Initially, the clinicopathologic features in both patients were thought to be suspicious for hairy cell leukemia variant or splenic marginal zone lymphoma. However, OGM detected CCND1 rearrangement: t(2;11)/IGK::CCND1 in one case and t(11;14)/IGH::CCND1 in the other case. These cases illustrate the valuable role OGM can play in establishing the diagnosis of MCL. Case 1 also contributes to the paucity of literature on the rare occurrence of IGK::CCND1 in MCL. [Display omitted] •Optical genomic mapping (OGM) is a robust tool for identifying unsuspected translocations.•Two cases of B-cell lymphoma resembling splenic marginal zone lymphoma were reclassified on the basis of OGM results.•These cases were classified as leukemic non-nodal variant of mantle cell lymphoma.•A rare variant translocation t(2; 11)/IGK::CCND1 is reported.