Article Data

  • Views 554
  • Dowloads 144

Case Reports

Open Access

Metastatic ovarian cancer and gastrointestinal stromal tumor on the grounds of neurofibromatosis. A case report and review of the literature

  • G.M. Makris1,2,*,
  • A. Makrysopoulou2
  • M.J. Battista3
  • C. Chrelias2

1Department of Obstetrics and Gynecology, Rea Maternity Hospital, Athens, Greece

2Gynecological Oncology Unit, Third Department of Obstetrics and Gynecology, General University Hospital "Attikon", University of Athens, Athens, Greece

3Department of Gynecology and Obstetrics, University Hospital Mainz, Mainz, Germany

DOI: 10.12892/ejgo3803.2017 Vol.38,Issue 5,October 2017 pp.790-792

Published: 10 October 2017

*Corresponding Author(s): G.M. Makris E-mail: makrismg@hotmail.com

Abstract

Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous syndrome. NF1 patients are at increased risk for both benign and malignant tumors. The authors present the case of a female patient with a medical history of NF1, with an impressive succession of tumors, namely metastatic ovarian cancer and, 20 years later, a gastrointestinal stromal tumor (GIST) of the jejunum. The metastatic ovarian Mullerian adenosarcoma was successfully treated with total abdominal hysterectomy with bilateral salpingo-oophorectomy, radiotherapy, chemotherapy, as well as Gamma Knife radiosurgery of the metastasis in the thalamus. The jejunal GIST was surgically removed. The exploration of molecular pathways that underlie the association between NF1, GISTs, and ovarian cancer may provide valuable insight into the pathogenesis of such cases and assessment of targeted therapies.

Keywords

Neurofibromatosis type 1; Ovarian cancer; Gastrointestinal stromal tumor; Metastasis.

Cite and Share

G.M. Makris,A. Makrysopoulou,M.J. Battista,C. Chrelias. Metastatic ovarian cancer and gastrointestinal stromal tumor on the grounds of neurofibromatosis. A case report and review of the literature. European Journal of Gynaecological Oncology. 2017. 38(5);790-792.

References

[1] Reynolds R.M., Browning G.G., Nawroz I., Campbell I.W.: “Von Recklinghausen’s neurofibromatosis: neurofibromatosis type 1”. Lancet, 2003, 361, 1552.

[2] Rad E., Tee A.R.: “Neurofibromatosis type 1: fundamental insights into cell signalling and cancer”. Semin. Cell. Dev. Biol., 2016, 52, 39

[3] Patil S., Chamberlain R.S.: “Neoplasms associated with germline and somatic NF1 gene mutations”. Oncologist, 2012, 17, 101.

[4] Anderson J.L., Gutmann D.H.: “Neurofibromatosis type 1”. Handb. Clin. Neurol., 2015, 132, 75-86.

[5] Rasmussen S.A., Friedman J.M.: “NF1 gene and neurofibromatosis 1”. Am. J. Epidemiol., 2000, 151, 33.

[6] Abramowicz A., Gos M.: “Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease”. Dev. Period. Med., 2014, 18, 297.

[7] Hernandez-Martin A., Duat-Rodriguez A.: “An Update on Neurofibromatosis Type 1: Not Just Cafe-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer”. Actas Dermosifiliogr 2016, 107, 465. [Article in English, Spanish]

[8] Miettinen M., Lasota J.: “Histopathology of gastrointestinal stromal tumor”. J. Surg. Oncol., 2011, 104, 865.

[9] Gheorghe M., Predescu D., Iosif C., Ardeleanu C., Bacanu F., Constantinoiu S.: “Clinical and therapeutic considerations of GIST”. J. Med. Life, 2014, 7, 139.

[10] Maertens O., Prenen H., Debiec-Rychter M., Wozniak A., Sciot R., Pauwels P., et al.: “Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients”. Hum. Mol. Genet., 2006, 15, 1015.

[11] Mussi C., Schildhaus H.U., Gronchi A., Wardelmann E., Hohenberger P.: “Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1”. Clin. Cancer Res., 2008, 14, 4550.

[12] Protopapas A., Sotiropoulou M., Haidopoulos D., Athanasiou S., Loutradis D., Antsaklis A.: “Ovarian neurofibroma: a rare visceral occurrence of type 1 neurofibromatosis and an unusual cause of chronic pelvic pain”. J. Minim. Invasive Gynecol., 2011, 18, 520.

[13] Hegg C.A., Flint A.: “Neurofibroma of the ovary”. Gynecol. Oncol., 1990, 37, 437.

[14] Tato B.P., Saez A.C., Recuero J.L., Dorado M.M., Fernandez P.R., de Paz F.S.: “Neurofibromatosis of atypical presentation”. J. Eur. Acad. Dermatol. Venereol., 2005, 19, 608.

[15] Friedlander M.L., Covens A., Glasspool R.M., Hilpert F., Kristensen G., Kwon S., et al.: “Gynecologic Cancer InterGroup (GCIG) consensus review for mullerian adenosarcoma of the female genital tract”. Int. J. Gynecol. Cancer, 2014, 24, S78.

[16] Van Mieghem T, Abeler VM, Moerman P, Verbist L, Vergote I, Amant F. CD10, estrogen and progesterone receptor expression in ovarian adenosarcoma. Gynecol Oncol 2005; 99: 493-496.

[17] Howitt BE, Sholl LM, Dal Cin P, Jia Y, Yuan L, MacConaill L et al. Targeted genomic analysis of Mullerian adenosarcoma. J Pathol 2015; 235: 37-49.

[18] Ratner N, Miller SJ. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer 2015; 15: 290-301.

[19] Bakker AC, La Rosa S, Sherman LS, Knight P, Lee H, Pancza P, Nievo M.: “Neurofibromatosis as a gateway to better treatment for a variety of malignancies”. Prog. Neurobiol., 2016 Feb 5. pii: S0301- 0082(15)30049-6. doi: 10.1016/j.pneurobio.2016.01.004. [Epub ahead of print]

[20] Chang T., Krisman K., Theobald E.H., Xu J., Akutagawa J., Lauchle J.O., et al.: “Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice”. J. Clin. Invest., 2013, 123, 335.

[21] Robertson K.A., Nalepa G., Yang F.C., Bowers D.C., Ho C.Y., Hutchins G.D., et al.: “Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial”. Lancet. Oncol., 2012, 13, 1218.

Abstracted / indexed in

Science Citation Index Expanded (SciSearch) Created as SCI in 1964, Science Citation Index Expanded now indexes over 9,500 of the world’s most impactful journals across 178 scientific disciplines. More than 53 million records and 1.18 billion cited references date back from 1900 to present.

Biological Abstracts Easily discover critical journal coverage of the life sciences with Biological Abstracts, produced by the Web of Science Group, with topics ranging from botany to microbiology to pharmacology. Including BIOSIS indexing and MeSH terms, specialized indexing in Biological Abstracts helps you to discover more accurate, context-sensitive results.

Google Scholar Google Scholar is a freely accessible web search engine that indexes the full text or metadata of scholarly literature across an array of publishing formats and disciplines.

JournalSeek Genamics JournalSeek is the largest completely categorized database of freely available journal information available on the internet. The database presently contains 39226 titles. Journal information includes the description (aims and scope), journal abbreviation, journal homepage link, subject category and ISSN.

Current Contents - Clinical Medicine Current Contents - Clinical Medicine provides easy access to complete tables of contents, abstracts, bibliographic information and all other significant items in recently published issues from over 1,000 leading journals in clinical medicine.

BIOSIS Previews BIOSIS Previews is an English-language, bibliographic database service, with abstracts and citation indexing. It is part of Clarivate Analytics Web of Science suite. BIOSIS Previews indexes data from 1926 to the present.

Journal Citation Reports/Science Edition Journal Citation Reports/Science Edition aims to evaluate a journal’s value from multiple perspectives including the journal impact factor, descriptive data about a journal’s open access content as well as contributing authors, and provide readers a transparent and publisher-neutral data & statistics information about the journal.

Submission Turnaround Time

Conferences

Top