Skip to main content

01.12.2017 | Brief Communication | Ausgabe 1/2017 Open Access

Journal of Ovarian Research 1/2017

PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor

Journal of Ovarian Research > Ausgabe 1/2017
Wen-Chung Wang, Ya-Ting Lee, Yen-Chein Lai



Granulosa cell tumors are rare ovarian malignancies. Their characteristics include unpredictable indolent growth with malignant potential and late recurrence. Approximately 95% are of adult type. Recent molecular studies have characterized the FOXL2 402C > G mutation in adult granulosa cell tumor. Our previous case report showed that unique FOXL2 402C > G mutation and defective DNA mismatch repair system are associated with the development of adult granulosa cell tumor.


In this study, the DNA sequences of four genes, MSH2, MLH1, MSH6, and PMS2, in the DNA mismatch repair system were determined via direct sequencing to elucidate the exact mechanism for the development of this granulosa cell tumor. The results showed that two missense germline mutations, T485K and N775L, inactivate the PMS2 gene.


The results of this case study indicated that although FOXL2 402C > G mutation determines the development of granulosa cell tumor, PMS2 mutation may be the initial driver of carcinogenesis. Immunohistochemistry-based tumor testing for mismatch repair gene expression may be necessary for granulosa cell tumors to determine their malignant potential or if they are part of Lynch syndrome.
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2017

Journal of Ovarian Research 1/2017 Zur Ausgabe

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Mail Icon II Newsletter

Bestellen Sie unseren kostenlosen Newsletter Update Gynäkologie und bleiben Sie gut informiert – ganz bequem per eMail.