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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-12-19

AUTHORS

Joseph Hatem, April M. Schrank-Hacker, Christopher D. Watt, Jennifer J. D. Morrissette, Adam I. Rubin, Ellen J. Kim, Sunita D. Nasta, Mariusz A. Wasik, Agata M. Bogusz

ABSTRACT

BACKGROUND: Diffuse 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 PRESENTATION: A 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. CONCLUSIONS: To 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. More... »

PAGES

137

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13000-016-0588-x

DOI

http://dx.doi.org/10.1186/s13000-016-0588-x

DIMENSIONS

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PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27993143


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31 schema:description BACKGROUND: Diffuse 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 PRESENTATION: A 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. CONCLUSIONS: To 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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38 schema:keywords B cells
39 BIRC3
40 BIRC3 genes
41 DLBCL
42 DLBCL-IF
43 Marginal zone lymphoma-derived interfollicular diffuse
44 PCR
45 PET
46 addition
47 alterations
48 ancillary studies
49 architecture
50 arm
51 awareness
52 back rash
53 biopsy
54 case report
55 cases
56 cell clonality
57 cell lymphoma
58 cell transformation
59 cells
60 cervical lymphadenopathy
61 challenging DLBCL
62 chromosomal deletions
63 chromosome 20
64 clinic
65 clonality
66 date
67 deletion
68 dermatology clinic
69 diagnostic pitfalls
70 diffuse
71 direct evidence
72 duration
73 effacement
74 entities
75 evidence
76 excisional biopsy
77 fatigue
78 findings
79 first report
80 first time
81 follicles
82 generalized itching
83 genes
84 genetic alterations
85 history
86 infiltrate
87 inguinal lymph nodes
88 interfollicular diffuse
89 interfollicular pattern
90 itching
91 knowledge
92 large cell transformation
93 link
94 long arm
95 lymph nodes
96 lymphadenopathy
97 lymphoid follicles
98 lymphoma
99 lymphoma-derived interfollicular diffuse
100 malignant cells
101 marginal zone B cells
102 marginal zone lymphoma
103 men
104 missense mutations
105 molecular evidence
106 months duration
107 mutations
108 nausea
109 nodal architecture
110 nodes
111 novel deletion
112 older men
113 patient's DLBCL
114 patient's MZL
115 patients
116 patterns
117 pitfalls
118 prior history
119 rare case
120 rare entity
121 rash
122 report
123 right inguinal lymph node
124 sequencing studies
125 skin
126 skin specimens
127 slides
128 specimens
129 study
130 surgery
131 time
132 transformation
133 transformation of MZL
134 years
135 zone B cells
136 zone lymphoma
137 zone lymphoma-derived interfollicular diffuse
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