Table 2

Somatic mutations in representative cases of cancer and co-occurring IPMN

Patient IDDiagnosisGenetic alterationsShared mutations
Carcinomaadj-IPMNdist-IPMNCarcinoma / adj -IPMNCarcinoma / dist -IPMNadj-IPMN / dist -IPMN
IPP08Ductal adenocarcinomaKRAS: p.G12VmissenseKRAS: p.G12VmissenseKRAS: p.G12VmissenseKRAS: p.G12VKRAS: p.G12VKRAS: p.G12V
RNF43: p.G67DmissenseRNF43: p.G67DmissenseGNAS: p.R201HmissenseRNF43: p.G67D
TGFBR2: p.P526LmissenseTGFBR2: p.P526LmissenseTGFBR2: p.P526L
ARID1A: p.Q2207Xmissenselikely related*indeterminate*indeterminate*
<0.0000001†0.0403†0.0407†
IPP14Ductal adenocarcinomaKRAS: p.G12DmissenseKRAS: p.G12DmissenseKRAS: p.G12DmissenseKRAS: p.G12DKRAS: p.G12DKRAS: p.G12D
ARID1A: p.N1313SmissenseARID1A: p.N1313SmissenseKRAS: p.Q61HmissenseARID1A: p.N1313SARID1A: p.N1313SARID1A: p.N1313S
RNF43: p.P686RmissenseRNF43: p.P686RmissenseARID1A: p.N1313SmissenseRNF43: p.P686RRNF43: p.P686RRNF43: p.P686R
RNF43: p.P686Rmissenselikely related*likely related*likely related*
<0.0000001†<0.0000001†<0.0000001†
IPP22Ductal adenocarcinomaKRAS: p.G12VmissenseKRAS: p.G12VmissenseGNAS: p.R201HmissenseKRAS: p.G12VGNAS: p.R201HGNAS: p.R201H
GNAS: p.R201HmissenseGNAS: p.R201HmissenseTP53: p.V272LmissenseGNAS: p.R201HTP53: p.V272LTP53: p.V272L
PIK3CA: p.H1047LmissensePIK3CA: p.H1047LmissenseSMAD4: p.W398XnonsensePIK3CA: p.H1047LSMAD4: p.W398XSMAD4: p.W398X
TP53: p.V272LmissenseTP53: p.V272LmissenseTP53: p.V272L
SMAD4: p.W398XnonsenseSMAD4: p.W398XnonsenseSMAD4: p.W398X
likely related*likely related*likely related*
<0.0000001†0.00607†0.00679†
IPP26Ductal adenocarcinomaKRAS: p.G12VmissenseKRAS: p.G12DmissenseKRAS: p.G12DmissensenonenoneKRAS: p.G12D
SMAD4: p.R372KmissenseGNAS: p.R201HmissenseGNAS: p.R201HmissenseGNAS: p.R201H
ARID1A: p.M1300ImissenseTP53: p.R205Qlikely independent*likely independent*likely related*
>0.9†>0.9†0.08
IPP43Ductal adenocarcinomaKRAS: p.G12DmissenseKRAS: p.G12VmissenseKRAS: p.G12VmissensenonenoneKRAS: p.G12V
GNAS: p.R201CmissenseTP53: p.R196Xmissense
PIK3CA: p.M1004VmissenseSMAD4: p.K70fsframeshift
likely independent*likely independent*indeterminate*
>0.9†>0.9†0.0407†
IPP54Ductal adenocarcinomaKRAS: p.G12VmissenseKRAS: p.G12AmissenseKRAS: p.G12Dmissensenonenonenone
TP53: p.V272LmissenseTP53: p.P390Lfsframeshift
likely independent*likely independent*likely independent*
0.9†0.9†0.9†
IPP38Ductal adenocarcinomaKRAS: p.G12VmissenseKRAS: p.G12RmissenseKRAS: p.G12VmissenseKRAS: p.G12VKRAS: p.G12VKRAS: p.G12V
TP53: p.C275YmissenseKRAS: p.G12Vmissense
SMAD4: p.E235KmissenseARID1A: p.D385Hmissense
indeterminate*indeterminate*indeterminate*
0.0403†0.0403†0.0407†
IPC03Colloid carcinomaGNAS: p.R201CmissenseGNAS: p.R201CmissenseN/AGNAS: p.R201CN/AN/A
TP53: p.G245DmissenseTP53: p.G245DmissenseTP53: p.G245D
likely related*
PIK3CA: p.M1004Imissense
IPC06Colloid carcinomaGNAS: p.R201CmissenseGNAS: p.R201CmissenseGNAS: p.R201CmissenseGNAS: p.R201CGNAS: p.R201CGNAS: p.R201C
TP53: p.H193RmissenseTP53: p.H193RmissenseTP53: p.H193RmissenseTP53: p.H193RTP53: p.H193RTP53: p.H193R
RNF43: p.C511Fmissense
likely related*likely related*likely related*
IPA03Carcinoma of the ampullary regionTGFBR2: p.E270KmissenseKRAS: p.G12RmissenseGNAS: c.1018+1G>ASplice variantnonenonenone
GNAS: p.R201Cmissense
likely independent*likely independent*likely independent*
IPA07Carcinoma of the ampullary regionKRAS: p.G12DmissenseKRAS: p.G12VmissenseKRAS: p.Q61Hmissensenonenonenone
CDKN2A: p.G111fsframeshiftGNAS: p.R201Hmissense
likely independent*likely independent*likely independent*
  • *Categorical assessment.

  • †Statistical assessment.

  • adj-/dist-IPMN, adjacent/distant IPMN; IPMN, intraductal papillary mucinous neoplasm; N/A, sample not available.