Reviewer's report
Title:Pancreatic Adenocarcinoma in Type 2 Progressive Familial Intrahepatic
Cholestasis
Version: 1Date:2 January 2010
Reviewer: Verena Keitel
Reviewer's report:
This case report presents for the first time the occurrence of an adenocarcinoma
of the pancreas in a patient with ABCB11(BSEP)-disease. It is well established
that severe mutations in the ABCB11 gene leading to PFIC-2 disease are
associated with an increased risk for the development of HCC and also
cholangiocarcinoma. Whether PFIC2 patients carry an elevated risk for the
development of other malignancies such as pancreatic cancer is unknown. The
authors of the manuscript suggest a causal relationship between
ABCB11-deficiency and the development of a pancreatic malignancy in their
patient, however, the authors also discuss whether this finding is due to mere
coincidence of both conditions.
Further studies will be necessary to clarify whether ABCB11 mutations may
predispose to the development of adenocarcinoma of the pancreas but are
beyond the scope and intention of this presented case report.
The article is well written and I have only a few minor comments:
Minor Essential Revisions:
1. p.3: It would be helpful to include the amino acid exchanges resulting from the
mutations T1238G (Leu413Trp) and C3724A (Gly1242Ile).
2. If the patient had a liver biopsy it would be interesting to know whether BSEP
staining was absent or reduced. The respective figure should be included if
possible.
3. Serum bile acid levels and if possible serum bile acid composition should be
included in the case presentation. As stated by the authors elevated
concentrations of bile acids and maybe altered composition of the bile acid pool
may represent one possible mechanism for tumor development in patients with
BSEP deficiency.
4. p.5: It would be helpful to include the normal range for CEA and CA19-9 in
parenthesis.
5. p.9: The reference 17 should be placed in front of the full stop.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests
Reviewer's report
Title:Pancreatic Adenocarcinoma in Type 2 Progressive Familial Intrahepatic
Cholestasis
Version: 1Date:2 January 2010
Reviewer: Verena Keitel
Reviewer's report:
This case report presents for the first time the occurrence of an adenocarcinoma
of the pancreas in a patient with ABCB11(BSEP)-disease. It is well established
that severe mutations in the ABCB11 gene leading to PFIC-2 disease are
associated with an increased risk for the development of HCC and also
cholangiocarcinoma. Whether PFIC2 patients carry an elevated risk for the
development of other malignancies such as pancreatic cancer is unknown. The
authors of the manuscript suggest a causal relationship between
ABCB11-deficiency and the development of a pancreatic malignancy in their
patient, however, the authors also discuss whether this finding is due to mere
coincidence of both conditions.
Further studies will be necessary to clarify whether ABCB11 mutations may
predispose to the development of adenocarcinoma of the pancreas but are
beyond the scope and intention of this presented case report.
The article is well written and I have only a few minor comments:
Minor Essential Revisions:
1. p.3: It would be helpful to include the amino acid exchanges resulting from the
mutations T1238G (Leu413Trp) and C3724A (Gly1242Ile).
2. If the patient had a liver biopsy it would be interesting to know whether BSEP
staining was absent or reduced. The respective figure should be included if
possible.
3. Serum bile acid levels and if possible serum bile acid composition should be
included in the case presentation. As stated by the authors elevated
concentrations of bile acids and maybe altered composition of the bile acid pool
may represent one possible mechanism for tumor development in patients with
BSEP deficiency.
4. p.5: It would be helpful to include the normal range for CEA and CA19-9 in
parenthesis.
5. p.9: The reference 17 should be placed in front of the full stop.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests
Please review this paper.
user
Reviewer's report
Title:Pancreatic Adenocarcinoma in Type 2 Progressive Familial Intrahepatic
Cholestasis
Version: 1Date:2 January 2010
Reviewer: Verena Keitel
Reviewer's report:
This case report presents for the first time the occurrence of an adenocarcinoma
of the pancreas in a patient with ABCB11(BSEP)-disease. It is well established
that severe mutations in the ABCB11 gene leading to PFIC-2 disease are
associated with an increased risk for the development of HCC and also
cholangiocarcinoma. Whether PFIC2 patients carry an elevated risk for the
development of other malignancies such as pancreatic cancer is unknown. The
authors of the manuscript suggest a causal relationship between
ABCB11-deficiency and the development of a pancreatic malignancy in their
patient, however, the authors also discuss whether this finding is due to mere
coincidence of both conditions.
Further studies will be necessary to clarify whether ABCB11 mutations may
predispose to the development of adenocarcinoma of the pancreas but are
beyond the scope and intention of this presented case report.
The article is well written and I have only a few minor comments:
Minor Essential Revisions:
1. p.3: It would be helpful to include the amino acid exchanges resulting from the
mutations T1238G (Leu413Trp) and C3724A (Gly1242Ile).
2. If the patient had a liver biopsy it would be interesting to know whether BSEP
staining was absent or reduced. The respective figure should be included if
possible.
3. Serum bile acid levels and if possible serum bile acid composition should be
included in the case presentation. As stated by the authors elevated
concentrations of bile acids and maybe altered composition of the bile acid pool
may represent one possible mechanism for tumor development in patients with
BSEP deficiency.
4. p.5: It would be helpful to include the normal range for CEA and CA19-9 in
parenthesis.
5. p.9: The reference 17 should be placed in front of the full stop.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests
assistant