Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome

References

1. 1.↵
   2. Wimmer K,
   3. Kratz CP,
   4. Vasen HFA, et al

   ; EU-Consortium Care for CMMRD (C4CMMRD). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD). J Med Genet 2014;51:355–65 doi:10.1136/jmedgenet-2014-102284 pmid:24737826

   Abstract/FREE Full Text
2. 2.↵
   2. Tabori U,
   3. Hansford JR,
   4. Achatz MI, et al

   . Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood. Clin Cancer Res 2017;23:e32–37 doi:10.1158/1078-0432.CCR-17-0574 pmid:28572265

   Abstract/FREE Full Text
3. 3.↵
   2. Vasen HF,
   3. Ghorbanoghli Z,
   4. Bourdeaut F, et al

   ; EU-Consortium Care for CMMR-D (C4CMMR-D. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D). J Med Genet 2014;51:283–93 doi:10.1136/jmedgenet-2013-102238 pmid:24556086

   Abstract/FREE Full Text
4. 4.↵
   2. Bakry D,
   3. Aronson M,
   4. Durno C, et al

   . Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. Eur J Cancer 2014;50:987–96 doi:10.1016/j.ejca.2013.12.005 pmid:24440087

   CrossRefPubMed
5. 5.↵
   2. Sarwar M,
   3. McCormick WF

   . Intracerebral venous angioma: case report and review. Arch Neurol 1978;35:323–25 doi:10.1001/archneur.1978.00500290069012 pmid:646686

   CrossRefPubMedWeb of Science
6. 6.↵
   2. Gökçe E,
   3. Acu B,
   4. Beyhan M, et al

   . Magnetic resonance imaging findings of developmental venous anomalies. Clin Neuroradiol 2014;24:135–43 doi:10.1007/s00062-013-0235-9 pmid:24240482

   CrossRefPubMed
7. 7.↵
   2. Ruız DS,
   3. Yilmaz H,
   4. Gailloud P

   . Cerebral developmental venous anomalies: current concepts. Ann Neurol 2009;66:271–83 doi:10.1002/ana.21754 pmid:19798638

   CrossRefPubMedWeb of Science
8. 8.↵
   2. Linscott LL,
   3. Leach JL,
   4. Zhang B, et al

   . Brain parenchymal signal abnormalities associated with developmental venous anomalies in children and young adults. AJNR Am J Neuroradiol 2014;35:1600–07 doi:10.3174/ajnr.A3960 pmid:24831595

   Abstract/FREE Full Text
9. 9.↵
   2. Lee C,
   3. Pennington MA,
   4. Kenney CM

   . MR evaluation of developmental venous anomalies: medullary venous anatomy of venous angiomas. AJNR Am J Neuroradiol 1996;17:61–70 pmid:8770251

   Abstract
10. 10.↵
    2. Santucci GM,
    3. Leach JL,
    4. Ying J, et al

    . Brain parenchymal signal abnormalities associated with developmental venous anomalies: detailed MR imaging assessment. AJNR Am J Neuroradiol 2008;29:1317–23 doi:10.3174/ajnr.A1090 pmid:18417603

    Abstract/FREE Full Text
11. 11.↵
    2. San Millan Ruíz D,
    3. Delavelle J,
    4. Yilmaz H, et al

    . Parenchymal abnormalities associated with developmental venous anomalies. Neuroradiology 2007;49:987–95 doi:10.1007/s00234-007-0279-0 pmid:17703296

    CrossRefPubMed
12. 12.↵
    2. Boukobza M,
    3. Enjolras O,
    4. Guichard JP, et al

    . Cerebral developmental venous anomalies associated with head and neck venous malformations. AJNR Am J Neuroradiol 1996;17:987–94 pmid:8733978

    Abstract
13. 13.↵
    2. Bisdorff A,
    3. Mulliken JB,
    4. Carrico J, et al

    . Intracranial vascular anomalies in patients with periorbital lymphatic and lymphaticovenous malformations. AJNR Am J Neuroradiol 2007;28:335–41 pmid:17297008

    Abstract/FREE Full Text
14. 14.↵
    2. Gabikian P,
    3. Clatterbuck RE,
    4. Gailloud P, et al

    . Developmental venous anomalies and sinus pericranii in the blue rubber-bleb nevus syndrome: case report. J Neurosurg 2003;99:409–11 doi:10.3171/jns.2003.99.2.0409 pmid:12924718

    CrossRefPubMed
15. 15.↵
    2. Chung JI,
    3. Alvarez H,
    4. Lasjaunias P

    . Multifocal cerebral venous malformations and associated developmental venous anomalies in a case of blue rubber bleb nevus syndrome. Interv Neuroradiol 2003;9:169–76 doi:10.1177/159101990300900206 pmid:20591267

    CrossRefPubMed
16. 16.↵
    2. Wimmer K,
    3. Rosenbaum T,
    4. Messiaen L

    . Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1. Clin Genet 2017;91:507–19 doi:10.1111/cge.12904 pmid:27779754

    CrossRefPubMed
17. 17.↵
    2. Baas AF,
    3. Gabbett M,
    4. Rimac M, et al

    . Agenesis of corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. Eur J Hum Genet 2013;21:55–61 doi:10.1038/ejhg.2012.117 pmid:22692065

    CrossRefPubMed
18. 18.↵
    2. Jones BV,
    3. Linscott L,
    4. Koberlein G, et al

    . Increased prevalence of developmental venous anomalies in children with intracranial neoplasms. AJNR Am J Neuroradiol 2015;36:1782–85 doi:10.3174/ajnr.A4352 pmid:26021620

    Abstract/FREE Full Text
19. 19.↵
    2. Lavoine N,
    3. Colas C,
    4. Muleris M, et al

    . Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. J Med Genet 2015;52:770–78 doi:10.1136/jmedgenet-2015-103299 pmid:26318770

    Abstract/FREE Full Text
20. 20.↵
    2. Bouffet E,
    3. Larouche V,
    4. Campbell BB, et al

    . Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency. J Clin Oncol 2016;34:2206–11 doi:10.1200/JCO.2016.66.6552 pmid:27001570

    Abstract/FREE Full Text
21. 21.↵
    2. Kline CN,
    3. Joseph NM,
    4. Grenert JP, et al

    . Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy. Neuro Oncol 2017;19:699–709 doi:10.1093/neuonc/now254 pmid:28453743

    CrossRefPubMed