Abstract
Granulosa cell tumors (GCTs) of the ovary are uncommon neoplasms, accounting for ~5% of all malignant ovarian tumors. GCTs are a relatively homogeneous group of tumors, categorized into two distinct subtypes, juvenile GCT and adult GCT (AGCT), likely arising from a limited set of molecular events usually involving the disruption of pathways that regulate granulosa cell proliferation. In the present study, the presence of forkheadbox L2 (FOXL2) c.402C>G mutation was investigated in a series of 42 samples of primary and metastatic AGCT of the ovary. The samples consisted of 37 primary and 5 metastatic ovarian AGCTs from 37 patients. FOXL2 mutational status was evaluated using a pyrosequencing approach on 2.5‑µm sections of formalin‑fixed paraffin‑embedded tissue. FOXL2 c.402C>G mutation was found in 33/37 (89.2%) primary AGCTs and in 4/5 (80.0%) metastases, with the molecular status of the metastases recapitulating that of the primary tumors (4 mutated cases and 1 wild‑type case). Overall, FOXL2 mutation is present in the majority of primary and metastatic AGCTs, and could be used as a valid tool in the diagnosis of the disease and in cases of metastatic lesions from an unknown primary origin. Moreover the concordance of FOXL2 molecular status in primary and associated metastases suggests its early appearance and genomic stability in AGCT tumorigenesis.
| Original language | English |
|---|---|
| Pages (from-to) | 1159-1163 |
| Number of pages | 5 |
| Journal | Oncology Letters |
| Volume | 12 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Aug 1 2016 |
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Keywords
- FOXL2
- Granulosa cell tumors
- Molecular signatures
- Mutation
- Ovary
ASJC Scopus subject areas
- Oncology
- Cancer Research
Cite this
FOXL2 molecular status in adult granulosa cell tumors of the ovary : A study of primary and metastatic cases. / Zannoni, Gian Franco; Improta, Giuseppina; Petrillo, Marco; Pettinato, Angela; Scambia, Giovanni; Fraggetta, Filippo.
In: Oncology Letters, Vol. 12, No. 2, 01.08.2016, p. 1159-1163.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - FOXL2 molecular status in adult granulosa cell tumors of the ovary
T2 - A study of primary and metastatic cases
AU - Zannoni, Gian Franco
AU - Improta, Giuseppina
AU - Petrillo, Marco
AU - Pettinato, Angela
AU - Scambia, Giovanni
AU - Fraggetta, Filippo
PY - 2016/8/1
Y1 - 2016/8/1
N2 - Granulosa cell tumors (GCTs) of the ovary are uncommon neoplasms, accounting for ~5% of all malignant ovarian tumors. GCTs are a relatively homogeneous group of tumors, categorized into two distinct subtypes, juvenile GCT and adult GCT (AGCT), likely arising from a limited set of molecular events usually involving the disruption of pathways that regulate granulosa cell proliferation. In the present study, the presence of forkheadbox L2 (FOXL2) c.402C>G mutation was investigated in a series of 42 samples of primary and metastatic AGCT of the ovary. The samples consisted of 37 primary and 5 metastatic ovarian AGCTs from 37 patients. FOXL2 mutational status was evaluated using a pyrosequencing approach on 2.5‑µm sections of formalin‑fixed paraffin‑embedded tissue. FOXL2 c.402C>G mutation was found in 33/37 (89.2%) primary AGCTs and in 4/5 (80.0%) metastases, with the molecular status of the metastases recapitulating that of the primary tumors (4 mutated cases and 1 wild‑type case). Overall, FOXL2 mutation is present in the majority of primary and metastatic AGCTs, and could be used as a valid tool in the diagnosis of the disease and in cases of metastatic lesions from an unknown primary origin. Moreover the concordance of FOXL2 molecular status in primary and associated metastases suggests its early appearance and genomic stability in AGCT tumorigenesis.
AB - Granulosa cell tumors (GCTs) of the ovary are uncommon neoplasms, accounting for ~5% of all malignant ovarian tumors. GCTs are a relatively homogeneous group of tumors, categorized into two distinct subtypes, juvenile GCT and adult GCT (AGCT), likely arising from a limited set of molecular events usually involving the disruption of pathways that regulate granulosa cell proliferation. In the present study, the presence of forkheadbox L2 (FOXL2) c.402C>G mutation was investigated in a series of 42 samples of primary and metastatic AGCT of the ovary. The samples consisted of 37 primary and 5 metastatic ovarian AGCTs from 37 patients. FOXL2 mutational status was evaluated using a pyrosequencing approach on 2.5‑µm sections of formalin‑fixed paraffin‑embedded tissue. FOXL2 c.402C>G mutation was found in 33/37 (89.2%) primary AGCTs and in 4/5 (80.0%) metastases, with the molecular status of the metastases recapitulating that of the primary tumors (4 mutated cases and 1 wild‑type case). Overall, FOXL2 mutation is present in the majority of primary and metastatic AGCTs, and could be used as a valid tool in the diagnosis of the disease and in cases of metastatic lesions from an unknown primary origin. Moreover the concordance of FOXL2 molecular status in primary and associated metastases suggests its early appearance and genomic stability in AGCT tumorigenesis.
KW - FOXL2
KW - Granulosa cell tumors
KW - Molecular signatures
KW - Mutation
KW - Ovary
UR - http://www.scopus.com/inward/record.url?scp=84977083904&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84977083904&partnerID=8YFLogxK
U2 - 10.3892/ol.2016.4711
DO - 10.3892/ol.2016.4711
M3 - Article
AN - SCOPUS:84977083904
VL - 12
SP - 1159
EP - 1163
JO - Oncology Letters
JF - Oncology Letters
SN - 1792-1074
IS - 2
ER -