Skip to main content
AAN.com
Neurology Clinical Pathological Conference
March 5, 2012

A 21-year-old woman with multiple cancers and a new brain lesion

March 6, 2012 issue
78 (10) 743-749
First page of PDF

Get full access to this article

View all available purchase options and get full access to this article.

REFERENCES

1.
Stiller CA, Chessells JM, Fitchett M. Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study. Br J Cancer 1994;70:969–972.
2.
Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep 2009;9:247–253.
3.
Durno C, Aronson M, Bapat B, Cohen Z, Gallinger S. Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. Gut 2005;54:1146–1150.
4.
Alkhouri N, Franciosi JP, Mamula P. Familial adenomatous polyposis in children and adolescents. J Pediatr Gastroenterol Nutr 2010;51:727–732.
5.
Markowitz SD, Bertagnolli MM. Molecular origins of cancer: molecular basis of colorectal cancer. N Engl J Med 2009;361:2449–2460.
6.
Abdel-Rahman WM, Mecklin JP, Peltomaki P. The genetics of HNPCC: application to diagnosis and screening. Crit Rev Oncol Hematol 2006;58:208–220.
7.
Fedier A, Fink D. Mutations in DNA mismatch repair genes: implications for DNA damage signaling and drug sensitivity. Int J Oncol 2004;24:1039–1047.
8.
Hall G, Clarkson A, Shi A, et al. Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma. Pathology 2010;42:409–413.
9.
Boland CR, Koi M, Chang DK, Carethers JM. The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside. Fam Cancer 2008;7:41–52.
10.
Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 2009;76:1–18.
11.
Peltomaki P. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Mol Genet 2001;10:735–740.
12.
Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005;23:609–618.
13.
Drescher KM, Sharma P, Lynch HT. Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients. Clin Dev Immunol 2010;170432.
14.
Purow B, Schiff D. Advances in the genetics of glioblastoma: are we reaching critical mass? Nat Rev Neurol 2009;5:419–426.
15.
Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999;81:214–218.
16.
Barrow E, Robinson L, Alduaij W, et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet 2009;75:141–149.
17.
Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839–847.
18.
Ricciardone MD, Ozcelik T, Cevher B, et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 1999;59:290–293.
19.
Wang Q, Lasset C, Desseigne F, et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 1999;59:294–297.
20.
Wimmer K, Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica 2010;95:699–701.
21.
Wimmer K, Etzler J. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 2008;124:105–122.
22.
Feitsma H, Kuiper RV, Korving J, Nijman IJ, Cuppen E. Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. Cancer Res 2008;68:5059–5066.
23.
Ribic CM, Sargent DJ, Moore MJ, et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003;349:247–257.
24.
Kruger S, Kinzel M, Walldorf C, et al. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1 Eur J Hum Genet 2008;16:62–72.
25.
DiPaolo DP, Zimmerman RA, Rorke LB, Zackai EH, Bilaniuk LT, Yachnis AT. Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology 1995;195:721–724.
26.
Kraut MA, Gerring JP, Cooper KL, Thompson RE, Denckla MB, Kaufmann WE. Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1. Am J Med Genet A 2004;129A:113–119.
27.
Ostergaard JR, Sunde L, Okkels H. Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. Am J Med Genet A 2005;139A:96–105; discussion 196.
28.
Williams SR, Joos BW, Parker JC, Parker JR. Papillary glioneuronal tumor: a case report and review of the literature. Ann Clin Lab Sci 2008;38:287–292.
29.
Johannesma P, van der Klift H, van Grieken N, et al. Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. Clin Genet 2011;80:243–255.
30.
Hunter C, Smith R, Cahill DP, et al. A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy. Cancer Res 2006;66:3987–3991.
31.
Sarkaria JN, Kitange GJ, James CD, et al. Mechanisms of chemoresistance to alkylating agents in malignant glioma. Clin Cancer Res 2008;14:2900–2908.
32.
Scott RH, Mansour S, Pritchard-Jones K, Kumar D, MacSweeney F, Rahman N. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat Clin Pract Oncol 2007;4:130–134.

Information & Authors

Information

Published In

Neurology®
Volume 78Number 10March 6, 2012
Pages: 743-749
PubMed: 22391604

Publication History

Published online: March 5, 2012
Published in print: March 6, 2012

Permissions

Request permissions for this article.

Disclosure

Dr. Schiff served on scientific advisory boards for Genentech, Inc., VBL Therapeutics, and Merck Serono; serves on the editorial board of Neurology®; receives publishing royalties from UpToDate; and serves as a consultant for Tau Therapeutics. Dr. Lam reports no disclosures. Dr. Parisi serves on scientific advisory boards for the US Government Defense Health Board and the Subcommittee for Laboratory Services and Pathology; serves as a Section Editor for Neurology®; receives royalties from the publication of Principles & Practice of Neuropathology, 2nd ed. (Oxford University Press, 2003); and receives research support from the NIH. Dr. Giannini receives research support from the NIH. Dr. Uhm reports no disclosures. Dr. Keegan serves as a Section Editor for Neurology® and as Chief Editor for eMedicine and has served as a consultant for Novartis, Bionest Partners, and the FDA. Dr. Kantarci received research support from the Multiple Sclerosis Society, Mayo Foundation CR20 award, and Hilton Foundation.

Authors

Affiliations & Disclosures

D. Schiff, MD
From the Neuro-Oncology Center (D.S.), University of Virginia Health Sciences Center, Charlottesville; and the Departments of Neurology (E.M.L., J.H.U., B.M.K., O.H.K.) and Laboratory Medicine and Pathology (J.E.P., C.G.), Mayo Clinic College of Medicine, Rochester, MN.
E.M. Lam, MD
From the Neuro-Oncology Center (D.S.), University of Virginia Health Sciences Center, Charlottesville; and the Departments of Neurology (E.M.L., J.H.U., B.M.K., O.H.K.) and Laboratory Medicine and Pathology (J.E.P., C.G.), Mayo Clinic College of Medicine, Rochester, MN.
J.E. Parisi, MD
From the Neuro-Oncology Center (D.S.), University of Virginia Health Sciences Center, Charlottesville; and the Departments of Neurology (E.M.L., J.H.U., B.M.K., O.H.K.) and Laboratory Medicine and Pathology (J.E.P., C.G.), Mayo Clinic College of Medicine, Rochester, MN.
C. Giannini, MD, PhD
From the Neuro-Oncology Center (D.S.), University of Virginia Health Sciences Center, Charlottesville; and the Departments of Neurology (E.M.L., J.H.U., B.M.K., O.H.K.) and Laboratory Medicine and Pathology (J.E.P., C.G.), Mayo Clinic College of Medicine, Rochester, MN.
J.H. Uhm, MD
From the Neuro-Oncology Center (D.S.), University of Virginia Health Sciences Center, Charlottesville; and the Departments of Neurology (E.M.L., J.H.U., B.M.K., O.H.K.) and Laboratory Medicine and Pathology (J.E.P., C.G.), Mayo Clinic College of Medicine, Rochester, MN.
B.M. Keegan, MD
From the Neuro-Oncology Center (D.S.), University of Virginia Health Sciences Center, Charlottesville; and the Departments of Neurology (E.M.L., J.H.U., B.M.K., O.H.K.) and Laboratory Medicine and Pathology (J.E.P., C.G.), Mayo Clinic College of Medicine, Rochester, MN.
O.H. Kantarci, MD
From the Neuro-Oncology Center (D.S.), University of Virginia Health Sciences Center, Charlottesville; and the Departments of Neurology (E.M.L., J.H.U., B.M.K., O.H.K.) and Laboratory Medicine and Pathology (J.E.P., C.G.), Mayo Clinic College of Medicine, Rochester, MN.

Notes

Correspondence & reprint requests to Dr. Kantarci: [email protected]

Author Contributions

Drs. Schiff, Lam, Giannini, Keegan, and Kantarci drafted/revised the manuscript for content and analyzed the data. Drs. Parisi and Uhm drafted/revised the manuscript for content and acquired and analyzed the data.

Metrics & Citations

Metrics

Citation information is sourced from Crossref Cited-by service.

Citations

Download Citations

If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Select your manager software from the list below and click Download.

Cited By
  1. Bibliography, Masquerading Symptoms, (493-542), (2024).https://doi.org/10.1002/9781394260447.biblio
    Crossref
  2. Lymphomas in patients with neurofibromatosis type 1 (NF1): another malignancy in the NF1 syndrome?, Pathology, 55, 3, (302-314), (2023).https://doi.org/10.1016/j.pathol.2023.01.002
    Crossref
  3. Neurofibromatosis Type 1 – Association with Breast Cancer, Basal Cell Carcinoma of the Skin, and Low-Grade Peripheral Nerve Sheath Sarcoma: Case Report and Literature Review, Case Reports in Oncology, 12, 1, (228-234), (2019).https://doi.org/10.1159/000496684
    Crossref
  4. An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1, Neurosurgery, 77, 1, (E145-E152), (2015).https://doi.org/10.1227/NEU.0000000000000754
    Crossref
Loading...

View Options

Login options

Check if you have access through your login credentials or your institution to get full access on this article.

Personal login Institutional Login
Purchase Options

The neurology.org payment platform is currently offline. Our technical team is working as quickly as possible to restore service.

If you need immediate support or to place an order, please call or email customer service:

  • 1-800-638-3030 for U.S. customers - 8:30 - 7 pm ET (M-F)
  • 1-301-223-2300 for customers outside the U.S. - 8:30 - 7 pm ET (M-F)
  • [email protected]

We appreciate your patience during this time and apologize for any inconvenience.

View options

PDF and All Supplements

Download PDF and Supplementary Material

Full Text

View Full Text

Full Text HTML

View Full Text HTML

Figures

Tables

Media

Share

Share

Share article link

Share