Axel Künstner
@knstnr.bsky.social
Bioinformatician. Statistician. Data squeezer. Omics-addicted with strong focus on #microbiome and #cancer.
July 30, 2025 at 11:54 AM
5/
Despite some overlap, prDLBCL isn’t just CNS/testicular DLBCL in the kidney.
Only 3 cases met MCD subtype criteria (LymphGen).
Most fell into EZB (32%) or remained unclassified.
Despite some overlap, prDLBCL isn’t just CNS/testicular DLBCL in the kidney.
Only 3 cases met MCD subtype criteria (LymphGen).
Most fell into EZB (32%) or remained unclassified.
June 19, 2025 at 6:50 AM
5/
Despite some overlap, prDLBCL isn’t just CNS/testicular DLBCL in the kidney.
Only 3 cases met MCD subtype criteria (LymphGen).
Most fell into EZB (32%) or remained unclassified.
Despite some overlap, prDLBCL isn’t just CNS/testicular DLBCL in the kidney.
Only 3 cases met MCD subtype criteria (LymphGen).
Most fell into EZB (32%) or remained unclassified.
4/
Mutational landscape:
• Frequent mutations in STAT3, MYD88, TNFAIP3, CDKN2A, PIM1, PRDM1
• Deregulated signaling: JAK/STAT, NF-κB, MYC targets
• Large 6q deletions (PRDM1, ARID1B) in ~50% of cases
Mutational landscape:
• Frequent mutations in STAT3, MYD88, TNFAIP3, CDKN2A, PIM1, PRDM1
• Deregulated signaling: JAK/STAT, NF-κB, MYC targets
• Large 6q deletions (PRDM1, ARID1B) in ~50% of cases
June 19, 2025 at 6:50 AM
4/
Mutational landscape:
• Frequent mutations in STAT3, MYD88, TNFAIP3, CDKN2A, PIM1, PRDM1
• Deregulated signaling: JAK/STAT, NF-κB, MYC targets
• Large 6q deletions (PRDM1, ARID1B) in ~50% of cases
Mutational landscape:
• Frequent mutations in STAT3, MYD88, TNFAIP3, CDKN2A, PIM1, PRDM1
• Deregulated signaling: JAK/STAT, NF-κB, MYC targets
• Large 6q deletions (PRDM1, ARID1B) in ~50% of cases
🧵5/
🧪 Comparison with published MZL datasets:
→ prMZL is genomically closer to MALT lymphomas than to nodal or splenic MZL.
But some known pathogen-linked mutations (e.g. TNFAIP3, TET2, FAS) were rare, hinting at unique renal tropism.
🧪 Comparison with published MZL datasets:
→ prMZL is genomically closer to MALT lymphomas than to nodal or splenic MZL.
But some known pathogen-linked mutations (e.g. TNFAIP3, TET2, FAS) were rare, hinting at unique renal tropism.
June 19, 2025 at 6:37 AM
🧵5/
🧪 Comparison with published MZL datasets:
→ prMZL is genomically closer to MALT lymphomas than to nodal or splenic MZL.
But some known pathogen-linked mutations (e.g. TNFAIP3, TET2, FAS) were rare, hinting at unique renal tropism.
🧪 Comparison with published MZL datasets:
→ prMZL is genomically closer to MALT lymphomas than to nodal or splenic MZL.
But some known pathogen-linked mutations (e.g. TNFAIP3, TET2, FAS) were rare, hinting at unique renal tropism.
🧵3/
📊 Top recurrent mutations in prMZL:
KMT2C (33%)
NOTCH1 (33%)
TSC1 (33%)
SPEN, ARID1B, BCOR (24-29%)
This suggests key roles for chromatin remodeling & NOTCH signaling in its pathogenesis.
📊 Top recurrent mutations in prMZL:
KMT2C (33%)
NOTCH1 (33%)
TSC1 (33%)
SPEN, ARID1B, BCOR (24-29%)
This suggests key roles for chromatin remodeling & NOTCH signaling in its pathogenesis.
June 19, 2025 at 6:37 AM
🧵3/
📊 Top recurrent mutations in prMZL:
KMT2C (33%)
NOTCH1 (33%)
TSC1 (33%)
SPEN, ARID1B, BCOR (24-29%)
This suggests key roles for chromatin remodeling & NOTCH signaling in its pathogenesis.
📊 Top recurrent mutations in prMZL:
KMT2C (33%)
NOTCH1 (33%)
TSC1 (33%)
SPEN, ARID1B, BCOR (24-29%)
This suggests key roles for chromatin remodeling & NOTCH signaling in its pathogenesis.
Schaut sich niemand die Bildunterschriften noch mal an? @tagesschau.bsky.social
March 26, 2025 at 7:11 PM
Schaut sich niemand die Bildunterschriften noch mal an? @tagesschau.bsky.social
🔍 Diving into selection processes in Hodgkin lymphoma:
- dN/dS analysis reveals different mutational selection pressures
- Sign. enrichment of non-syn. variants in primary-refractory & relapsed HL compared to responders showing different selection pressure
- dN/dS analysis reveals different mutational selection pressures
- Sign. enrichment of non-syn. variants in primary-refractory & relapsed HL compared to responders showing different selection pressure
February 25, 2025 at 8:28 AM
🔍 Diving into selection processes in Hodgkin lymphoma:
- dN/dS analysis reveals different mutational selection pressures
- Sign. enrichment of non-syn. variants in primary-refractory & relapsed HL compared to responders showing different selection pressure
- dN/dS analysis reveals different mutational selection pressures
- Sign. enrichment of non-syn. variants in primary-refractory & relapsed HL compared to responders showing different selection pressure
Looking at the key genetic differences in relapsed/refractory Hodgkin lymphoma we found distinct mutations between responders vs. relapsed/refractory cases. Fascinating longitudinal mutation dynamics were revealed - BARD1 mutations emerge post-therapy, while others disappear.
February 25, 2025 at 8:28 AM
Looking at the key genetic differences in relapsed/refractory Hodgkin lymphoma we found distinct mutations between responders vs. relapsed/refractory cases. Fascinating longitudinal mutation dynamics were revealed - BARD1 mutations emerge post-therapy, while others disappear.
Our team used ultra-deep sequencing to map the mutational landscape of relapsed/refractory Hodgkin lymphoma. We found distinct genomic signatures and important clonal evolution patterns, including BARD1 mutations emerging after chemotherapy and NOTCH pathway selection.
February 25, 2025 at 8:28 AM
Our team used ultra-deep sequencing to map the mutational landscape of relapsed/refractory Hodgkin lymphoma. We found distinct genomic signatures and important clonal evolution patterns, including BARD1 mutations emerging after chemotherapy and NOTCH pathway selection.
January 27, 2025 at 1:14 PM
Bluesky now has over 10 million users, and I was #974,531!
September 18, 2024 at 7:24 AM
Bluesky now has over 10 million users, and I was #974,531!
Investigating the role of the 6p25.2-q27 deletion we found significant transcriptional deregulation of interferon signaling and MYC targets in MHC class I-deficient cases.
July 22, 2024 at 2:19 PM
Investigating the role of the 6p25.2-q27 deletion we found significant transcriptional deregulation of interferon signaling and MYC targets in MHC class I-deficient cases.
Despite mutational heterogeneity with a broad distribution among molecular clusters, we observed deleterious MHC class I and II aberrations and loss of CDKN2A at a frequency similar to primary large B-cell lymphoma of immune privileged sites (IP-LBCL).
July 22, 2024 at 2:19 PM
Despite mutational heterogeneity with a broad distribution among molecular clusters, we observed deleterious MHC class I and II aberrations and loss of CDKN2A at a frequency similar to primary large B-cell lymphoma of immune privileged sites (IP-LBCL).
To decode the genetic and transcriptional framework of PR-DLBCL, we utilized whole exome sequencing, array-based somatic copy number alterations analysis, and RNA sequencing comprising 34 samples from 30 patients.
July 22, 2024 at 2:18 PM
To decode the genetic and transcriptional framework of PR-DLBCL, we utilized whole exome sequencing, array-based somatic copy number alterations analysis, and RNA sequencing comprising 34 samples from 30 patients.
We dug deeper compared the the two BPDCN subtypes and performed a deconvolution according to immune cell populations using the methylation data.
April 11, 2024 at 10:18 AM
We dug deeper compared the the two BPDCN subtypes and performed a deconvolution according to immune cell populations using the methylation data.
Mitotic clock analysis revealed a faster mitotic clock compared to AML/CMML/Melanoma. Promoter regions of tumor suppressor genes were generally higher methylated and gene body regions lower methylated in BPDCN compared to AML/CMML.
April 11, 2024 at 10:18 AM
Mitotic clock analysis revealed a faster mitotic clock compared to AML/CMML/Melanoma. Promoter regions of tumor suppressor genes were generally higher methylated and gene body regions lower methylated in BPDCN compared to AML/CMML.
Next, we performed an in-depth comparison of BPDCN methylation profiles against AML, CMML, t-ALL, and melanoma, which showed, that BPDCN does show a distinct methylation profile compared to AML. Furthermore, global methylation levels are lower compared to the other entities.
April 11, 2024 at 10:17 AM
Next, we performed an in-depth comparison of BPDCN methylation profiles against AML, CMML, t-ALL, and melanoma, which showed, that BPDCN does show a distinct methylation profile compared to AML. Furthermore, global methylation levels are lower compared to the other entities.
We investigated 45 BPDCN cases using WES, RNA-seq and Epic Methylation arrays. First, we compared the epigenetic profiles of BPDCN and sorted hematopoietic cell populations.
April 11, 2024 at 10:16 AM
We investigated 45 BPDCN cases using WES, RNA-seq and Epic Methylation arrays. First, we compared the epigenetic profiles of BPDCN and sorted hematopoietic cell populations.
February 9, 2024 at 8:40 AM
January 27, 2024 at 10:34 PM
Inken Wohlers investigated mtDNA haplogroup and found that even within the same dog breed, the mtDNA haplogroup varied, and there was an association between the mtDNA haplogroup and microbial composition in the gut and skin.
October 30, 2023 at 1:04 PM
Inken Wohlers investigated mtDNA haplogroup and found that even within the same dog breed, the mtDNA haplogroup varied, and there was an association between the mtDNA haplogroup and microbial composition in the gut and skin.
Oclacitinib treatment on cAD-affected dogs shifted the composition of microbiota towards that in healthy dogs, and the latter brought it much closer to healthy microbiota, particularly in the gut.
October 30, 2023 at 1:04 PM
Oclacitinib treatment on cAD-affected dogs shifted the composition of microbiota towards that in healthy dogs, and the latter brought it much closer to healthy microbiota, particularly in the gut.