Abstract
The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. The sensitivity and specificity of these tumour pathology features for predicting an inherited mutation vary depending on the syndrome. By recognising these tumour features, pathologists may potentially contribute to the diagnosis of an unsuspected syndrome by recommending referral of the patient for formal risk assessment by genetic counselling. Patients additionally benefit from diagnosis of an inherited syndrome because many also carry a lifetime risk for developing primary malignancies outside of the gynaecological tract. Early diagnosis of an inherited syndrome permits early screening, detection, and management of additional malignancies associated with the syndrome. This review highlights these rare syndromes and their tumour pathology, including Peutz–Jeghers syndrome (gastric type mucinous carcinoma of the cervix; ovarian sex cord tumour with annular tubules); hereditary leiomyoma renal cell carcinoma syndrome (uterine leiomyoma); tuberous sclerosis complex (uterine PEComa; uterine lymphangioleiomyomatosis); DICER1 syndrome (ovarian Sertoli–Leydig cell tumour; cervical embryonal rhabdomyosarcoma); rhabdoid tumour predisposition syndrome 2 (small cell carcinoma of the ovary, hypercalcaemic type); Cowden syndrome (endometrial endometrioid adenocarcinoma); naevoid basal cell carcinoma syndrome (ovarian fibroma); and Von Hippel–Lindau syndrome (clear cell papillary cystadenoma of the broad ligament).
| Original language | English (US) |
|---|---|
| Pages (from-to) | 238-256 |
| Number of pages | 19 |
| Journal | Pathology |
| Volume | 50 |
| Issue number | 2 |
| DOIs | |
| State | Published - Feb 1 2018 |
| Externally published | Yes |
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Keywords
- germline mutation
- Hereditary gynaecological tumours
ASJC Scopus subject areas
- Pathology and Forensic Medicine
Cite this
Uncommon hereditary gynaecological tumour syndromes : pathological features in tumours that may predict risk for a germline mutation. / Garg, Karuna; Karnezis, Anthony; Rabban, Joseph T.
In: Pathology, Vol. 50, No. 2, 01.02.2018, p. 238-256.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Uncommon hereditary gynaecological tumour syndromes
T2 - pathological features in tumours that may predict risk for a germline mutation
AU - Garg, Karuna
AU - Karnezis, Anthony
AU - Rabban, Joseph T.
PY - 2018/2/1
Y1 - 2018/2/1
N2 - The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. The sensitivity and specificity of these tumour pathology features for predicting an inherited mutation vary depending on the syndrome. By recognising these tumour features, pathologists may potentially contribute to the diagnosis of an unsuspected syndrome by recommending referral of the patient for formal risk assessment by genetic counselling. Patients additionally benefit from diagnosis of an inherited syndrome because many also carry a lifetime risk for developing primary malignancies outside of the gynaecological tract. Early diagnosis of an inherited syndrome permits early screening, detection, and management of additional malignancies associated with the syndrome. This review highlights these rare syndromes and their tumour pathology, including Peutz–Jeghers syndrome (gastric type mucinous carcinoma of the cervix; ovarian sex cord tumour with annular tubules); hereditary leiomyoma renal cell carcinoma syndrome (uterine leiomyoma); tuberous sclerosis complex (uterine PEComa; uterine lymphangioleiomyomatosis); DICER1 syndrome (ovarian Sertoli–Leydig cell tumour; cervical embryonal rhabdomyosarcoma); rhabdoid tumour predisposition syndrome 2 (small cell carcinoma of the ovary, hypercalcaemic type); Cowden syndrome (endometrial endometrioid adenocarcinoma); naevoid basal cell carcinoma syndrome (ovarian fibroma); and Von Hippel–Lindau syndrome (clear cell papillary cystadenoma of the broad ligament).
AB - The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. The sensitivity and specificity of these tumour pathology features for predicting an inherited mutation vary depending on the syndrome. By recognising these tumour features, pathologists may potentially contribute to the diagnosis of an unsuspected syndrome by recommending referral of the patient for formal risk assessment by genetic counselling. Patients additionally benefit from diagnosis of an inherited syndrome because many also carry a lifetime risk for developing primary malignancies outside of the gynaecological tract. Early diagnosis of an inherited syndrome permits early screening, detection, and management of additional malignancies associated with the syndrome. This review highlights these rare syndromes and their tumour pathology, including Peutz–Jeghers syndrome (gastric type mucinous carcinoma of the cervix; ovarian sex cord tumour with annular tubules); hereditary leiomyoma renal cell carcinoma syndrome (uterine leiomyoma); tuberous sclerosis complex (uterine PEComa; uterine lymphangioleiomyomatosis); DICER1 syndrome (ovarian Sertoli–Leydig cell tumour; cervical embryonal rhabdomyosarcoma); rhabdoid tumour predisposition syndrome 2 (small cell carcinoma of the ovary, hypercalcaemic type); Cowden syndrome (endometrial endometrioid adenocarcinoma); naevoid basal cell carcinoma syndrome (ovarian fibroma); and Von Hippel–Lindau syndrome (clear cell papillary cystadenoma of the broad ligament).
KW - germline mutation
KW - Hereditary gynaecological tumours
UR - http://www.scopus.com/inward/record.url?scp=85040605620&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85040605620&partnerID=8YFLogxK
U2 - 10.1016/j.pathol.2017.10.009
DO - 10.1016/j.pathol.2017.10.009
M3 - Review article
C2 - 29373116
AN - SCOPUS:85040605620
VL - 50
SP - 238
EP - 256
JO - Pathology
JF - Pathology
SN - 0031-3025
IS - 2
ER -