A Novel del(20q) in Aggressive Nodal Marginal Zone Lymphoma

Kern, Jason; Duff, Deiter J.; Odem, Jamie L.; Esebua, Magda; Smith, Lisa R.; Doll, Donald C.; Wang, Michael

doi:10.1155/2013/784176

Cited by 5 publications

(11 citation statements)

References 3 publications

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“…Deletion of chromosome 20q is a common cytogenetic abnormality in various myeloid neoplasms, most notably myelodysplastic syndrome [1, 13, 14] but its association with lymphoid malignancies is rare and limited to a few reports. This includes a case of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia [15] and two cases of marginal zone lymphoma [12, 16]. Another study of 64 patients with chronic lymphocytic leukemia (CLL) revealed that del(20q) appears to be a therapy-related abnormality in CLL involving both myeloid and lymphoid cells and may represent disease progression [17, 18].…”

Section: Discussionmentioning

confidence: 99%

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Marginal zone lymphoma-derived interfollicular diffuse large B-cell lymphoma harboring 20q12 chromosomal deletion and missense mutation of BIRC3 gene: a case report

et al. 2016

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BackgroundDiffuse large B-cell lymphoma (DLBCL) typically leads to effacement of the nodal architecture by an infiltrate of malignant cells. Rarely (<1%), DLBCL can present with an interfollicular pattern (DLBCL-IF) preserving the lymphoid follicles. It has been postulated that DLBCL-IF is derived from marginal zone B cells and may represent a large-cell transformation of marginal zone lymphoma (MZL), however no direct evidence has been provided to date. Here we describe a rare case of a diagnostically challenging DLBCL-IF involving a lymph node in a patient with a prior history of lymphadenopathy for several years and MZL involving skin.Case presentationA 53-year old man presented to our Dermatology Clinic due to a 1-year history of generalized itching, fatigue of 2–3 month’s duration, nausea and mid back rash that was biopsied. PET (positron emission tomography)/CT (computed tomography) was performed and revealed inguinal, pelvic, retroperitoneal, axillary, and cervical lymphadenopathy. The patient was referred to surgery for excisional biopsy of a right inguinal lymph node.Diagnostic H&E stained slides and ancillary studies were reviewed for the lymph node and skin specimens. B-cell clonality by PCR and sequencing studies were performed on both specimens.We demonstrate that this patient’s MZL and DLBCL-IF are clonally related, strongly suggesting that transformation of MZL to DLBCL had occurred. Furthermore, we identified a novel deletion of the long arm of chromosome 20 (del(20q12)) and a missense mutation in BIRC3 (Baculoviral IAP repeat-containing protein 3) in this patient’s DLBCL that are absent from his MZL, suggesting that these genetic alterations contributed to the large cell transformation.ConclusionsTo our knowledge, this is the first report providing molecular evidence for a previously suspected link between MZL and DLBCL-IF. In addition, we describe for the first time del(20q12) and a missense mutation in BIRC3 in DLBCL. Our findings also raise awareness of DLBCL-IF and discuss the diagnostic pitfalls of this rare entity.

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Section: Discussionmentioning

confidence: 99%

“…Previous report described del(20q) in MZL with aggressive features [12]. Since this patient’s DLBCL was thought be derived from a MZL, additional FISH analysis for a 20q12 deletion was performed on both skin and lymph node material to determine whether this abnormality may be present.…”

Section: Case Presentationmentioning

confidence: 99%

Marginal zone lymphoma-derived interfollicular diffuse large B-cell lymphoma harboring 20q12 chromosomal deletion and missense mutation of BIRC3 gene: a case report

et al. 2016

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“…Deletions in the long arm of chromosome 20 ‐ del(20q), generally centered on 20q12 ‐ are commonly associated with myeloid neoplasms, most notably myelodysplastic syndrome (MDS), myeloproliferative disorders and acute myeloid leukemia . Although rarely associated with lymphoma, del(20q12) has been reported in a case of aggressive NMZL . We recently described a case of DLBCL harboring del(20q12) in a patient with a history of MZL involving lymph nodes and skin .…”

Section: Introductionmentioning

confidence: 99%

Deletion 20q12 is associated with histological transformation of nodal marginal zone lymphoma to diffuse large B‐cell lymphoma

et al. 2019

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The genetic and molecular abnormalities underlying histological transformation (HT) of nodal marginal zone lymphoma (NMZL) to diffuse large B-cell lymphoma (DLBCL) are not well known. While del(20q12) is commonly deleted in myelodysplastic syndrome it has not previously been associated with DLBCL. We recently described a case of DLBCL harboring del(20q12) in a patient with a history of MZL involving lymph nodes and skin. Here we report eight matched cases of transformed MZL(tMZL): six from nodal MZL (tNMZL) and two from splenic MZL (tSMZL). We found >20% del(20q12) in 4/6 tNMZL, but not in tSMZL, nor in unmatched DLBCL, MZL with increased large cells (MZL-ILC), or MZL cases. To examine whether transformation is associated with a specific gene signature, the matched cases were analyzed for multiplexed gene expression using the Nanostring PanCancer Pathways panel. The differential gene expression signature revealed enrichment of inflammatory markers, as previously observed in MZL. Also, tMZL and de novo DLBCL were enriched for extracellular matrix proteins such as collagen and fibronectin, vascular development protein PDGFRβ, DNA repair protein RAD51, and oncogenic secrete protein Wnt11. A subset of genes is expressed differentially in del(20q12) tMZL cases vs non-del(20q12) tMZL cases. These results suggest a specific pathway is involved in the histological transformation of NMZL, which could serve as an indicator of aggressive clinical course in this otherwise indolent neoplasm.

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“…The incidental finding of 20q‐ in the bone marrow has been observed in the absence of MNs . Such cases may or may not present with cytopenias and the bone marrow may have minimal or no atypical features.…”

Section: Discussionmentioning

confidence: 99%

“…The isolated finding of 20q‐ has been rarely reported in the lymphoproliferative disorders . A recent study described the isolated finding of 20q‐ in CLL patients post treatment.…”

Section: Discussionmentioning

confidence: 99%

Clinical course of patients with incidental finding of 20q‐ in the bone marrow without a morphologic evidence of myeloid neoplasm

et al. 2016

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Deletion of the long arm of chromosome 20 (20q-) is a frequent finding in bone marrow karyotypes, mainly associated with myeloid neoplasms (MNs). Its clinical significance in the setting of normal bone marrow morphology is unclear. We described the clinical characteristics, cytogenetic findings, and outcome of 102 such patients seen at our institution from 2000-2014. Their median age was 66 years. The indication for bone marrow biopsy was either unexplained cytopenias (48%) or hematologic cancer staging/reevaluation (52%). In 88 (86%) patients, 20q-was an isolated finding. Thirty-nine (38%) patients previously received chemotherapy and 88 (86%) had cytopenias at the time of 20q-finding. After a median of 35 months, 12 (13%) patients developed MNs: 10 myelodysplastic syndromes, one acute myeloid leukemia and one myeloproliferative neoplasm. None of 14 patients with normal blood counts, but 7 of 35 (20%) with mild cytopenias, and 5 of 53 (9%) with moderate/ severe cytopenias developed MNs. We did not find an association between the number of metaphases with 20q-and the development of MN. The incidental finding of 20q-in the bone marrow generally does not portend an early stage MN. Particularly, those without cytopenias at the time of diagnosis may have a good prognosis.

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A Novel del(20q) in Aggressive Nodal Marginal Zone Lymphoma

Cited by 5 publications

References 3 publications

Marginal zone lymphoma-derived interfollicular diffuse large B-cell lymphoma harboring 20q12 chromosomal deletion and missense mutation of BIRC3 gene: a case report

Marginal zone lymphoma-derived interfollicular diffuse large B-cell lymphoma harboring 20q12 chromosomal deletion and missense mutation of BIRC3 gene: a case report

Deletion 20q12 is associated with histological transformation of nodal marginal zone lymphoma to diffuse large B‐cell lymphoma

Clinical course of patients with incidental finding of 20q‐ in the bone marrow without a morphologic evidence of myeloid neoplasm

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