Clinicopathologic and mutational profiles of primary breast diffuse large B cell lymphoma in a male patient : case report and literature review
© 2023. BioMed Central Ltd., part of Springer Nature..
INTRODUCTION: Primary breast lymphoma (PBL) is rare, and most cases occur in female patients, with few reported cases in male patients. The clinical presentation is similar to that of breast cancer, but the condition needs to be well understood, as treatment options and clinical course vary. Hence, we provide a relatively rare case of primary breast diffuse large B cell lymphoma (PB-DLBCL) in a male, including its complete clinicopathological features, radiological findings, genomic mutational profiles, and clinical course.
CASE PRESENTATION: A 45-year-old male presented with a lump in his right breast for 1 week and was pathologically diagnosed with breast malignancy after a breast puncture biopsy at the local hospital. He came to our hospital for further treatment and underwent breast ultrasound and systemic positron emission tomography/computed tomography (PET/CT) imaging, followed by right mastectomy and sentinel lymph node biopsy. Histomorphology showed diffuse hyperplasia of tumor cells with clear boundaries and surrounding normal breast ducts. The adhesion of tumor cells was poor with obvious atypia. Immunohistochemical results showed that the tumor cells were positive for CD20, Bcl6, and MUM-1 but negative for CK (AE1/AE3), ER, PR, CD3, and CD10. Forty percent of the tumor cells were positive for c-Myc, and 80% of tumor cells were positive for Bcl2. The Ki-67 proliferation index was up to 80%. The tumor cells were negative for MYC and BCL2 rearrangements but positive for BCL6 rearrangement by fluorescent in situ hybridization. No abnormality was found in the pathological examination of bone marrow aspiration. Therefore, the male was diagnosed with PB-DLBCL, nongerminal center (non-GCB) phenotype, dual-expression type. The sample were sequenced by a target panel of 121 genes related to lymphoma. Next-generation sequencing revealed six tumor-specific mutated genes (IGH/BCL6, TNFAIP3, PRDM1, CREBBP, DTX1, and FOXO1). The patient was given six cycles of orelabrutinib plus R-CHOP chemotherapy and two cycles of intrathecal injection of cytarabine. The last follow-up was on April 13, 2023 (17 months). No recurrence or metastasis was found in laboratory and imaging examinations.
CONCLUSION: We reported a relatively rare PB-DLBCL in a male, non-GBC phenotype, dual-expression type. It is worth mentioning that this case had IgH/BCL6 fusion, nonsense mutations in TNFAIP3, frameshift mutations in PRDM1, and missense mutations in CREBBP, DTX1, and FOXO1. To the best of our knowledge, this case is the first report of genomic mutational profiles of PB-DLBCL in males.
| Errataetall: |
ErratumIn: World J Surg Oncol. 2023 Dec 12;21(1):382. - PMID 38082367 |
|---|---|
| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:21 |
|---|---|
| Enthalten in: |
World journal of surgical oncology - 21(2023), 1 vom: 26. Okt., Seite 342 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Huang, Fengbo [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 31.10.2023 Date Revised 12.12.2023 published: Electronic ErratumIn: World J Surg Oncol. 2023 Dec 12;21(1):382. - PMID 38082367 Citation Status MEDLINE |
|---|
| doi: |
10.1186/s12957-023-03234-z |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM363770267 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM363770267 | ||
| 003 | DE-627 | ||
| 005 | 20231227131831.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s12957-023-03234-z |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1226.xml |
| 035 | |a (DE-627)NLM363770267 | ||
| 035 | |a (NLM)37884941 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Huang, Fengbo |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Clinicopathologic and mutational profiles of primary breast diffuse large B cell lymphoma in a male patient |b case report and literature review |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 31.10.2023 | ||
| 500 | |a Date Revised 12.12.2023 | ||
| 500 | |a published: Electronic | ||
| 500 | |a ErratumIn: World J Surg Oncol. 2023 Dec 12;21(1):382. - PMID 38082367 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2023. BioMed Central Ltd., part of Springer Nature. | ||
| 520 | |a INTRODUCTION: Primary breast lymphoma (PBL) is rare, and most cases occur in female patients, with few reported cases in male patients. The clinical presentation is similar to that of breast cancer, but the condition needs to be well understood, as treatment options and clinical course vary. Hence, we provide a relatively rare case of primary breast diffuse large B cell lymphoma (PB-DLBCL) in a male, including its complete clinicopathological features, radiological findings, genomic mutational profiles, and clinical course | ||
| 520 | |a CASE PRESENTATION: A 45-year-old male presented with a lump in his right breast for 1 week and was pathologically diagnosed with breast malignancy after a breast puncture biopsy at the local hospital. He came to our hospital for further treatment and underwent breast ultrasound and systemic positron emission tomography/computed tomography (PET/CT) imaging, followed by right mastectomy and sentinel lymph node biopsy. Histomorphology showed diffuse hyperplasia of tumor cells with clear boundaries and surrounding normal breast ducts. The adhesion of tumor cells was poor with obvious atypia. Immunohistochemical results showed that the tumor cells were positive for CD20, Bcl6, and MUM-1 but negative for CK (AE1/AE3), ER, PR, CD3, and CD10. Forty percent of the tumor cells were positive for c-Myc, and 80% of tumor cells were positive for Bcl2. The Ki-67 proliferation index was up to 80%. The tumor cells were negative for MYC and BCL2 rearrangements but positive for BCL6 rearrangement by fluorescent in situ hybridization. No abnormality was found in the pathological examination of bone marrow aspiration. Therefore, the male was diagnosed with PB-DLBCL, nongerminal center (non-GCB) phenotype, dual-expression type. The sample were sequenced by a target panel of 121 genes related to lymphoma. Next-generation sequencing revealed six tumor-specific mutated genes (IGH/BCL6, TNFAIP3, PRDM1, CREBBP, DTX1, and FOXO1). The patient was given six cycles of orelabrutinib plus R-CHOP chemotherapy and two cycles of intrathecal injection of cytarabine. The last follow-up was on April 13, 2023 (17 months). No recurrence or metastasis was found in laboratory and imaging examinations | ||
| 520 | |a CONCLUSION: We reported a relatively rare PB-DLBCL in a male, non-GBC phenotype, dual-expression type. It is worth mentioning that this case had IgH/BCL6 fusion, nonsense mutations in TNFAIP3, frameshift mutations in PRDM1, and missense mutations in CREBBP, DTX1, and FOXO1. To the best of our knowledge, this case is the first report of genomic mutational profiles of PB-DLBCL in males | ||
| 650 | 4 | |a Review | |
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Clinicopathological features | |
| 650 | 4 | |a Genomic mutational profiles | |
| 650 | 4 | |a Male | |
| 650 | 4 | |a Primary breast diffuse large B cell lymphoma | |
| 650 | 7 | |a dinophysistoxin 1 |2 NLM | |
| 650 | 7 | |a 4Q51CVY9O2 |2 NLM | |
| 650 | 7 | |a Proto-Oncogene Proteins c-bcl-2 |2 NLM | |
| 700 | 1 | |a Ruan, Yachao |e verfasserin |4 aut | |
| 700 | 1 | |a He, Xiaojuan |e verfasserin |4 aut | |
| 700 | 1 | |a Lian, Hui |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Jinhua |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t World journal of surgical oncology |d 2003 |g 21(2023), 1 vom: 26. Okt., Seite 342 |w (DE-627)NLM125391404 |x 1477-7819 |7 nnns |
| 773 | 1 | 8 | |g volume:21 |g year:2023 |g number:1 |g day:26 |g month:10 |g pages:342 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1186/s12957-023-03234-z |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 21 |j 2023 |e 1 |b 26 |c 10 |h 342 | ||