Sertoli-Leydig cell tumour
Encyclopedia
Sertoli-Leydig cell tumour is a group of tumours composed of variable proportions of Sertoli cells, Leydig cells, and in the case of intermediate and poorly differentiated neoplasms, primitive gonadal stroma and sometimes heterologous elements.
Sertoli-Leydig cell tumour is a member of the sex cord-stromal tumour
group of ovarian
and testicular cancer
s. The tumour is rare, comprising less than 1% of testicular tumours. While the tumour can occur at any age, it occurs most often in young adults. Recent studies have shown that many cases of Sertoli Leydig cell tumor of the ovary are caused by germline mutations in the DICER1
gene. These hereditary cases tend to be younger, often have a multinodular thyroid goiter and there may be a personal or family history of other rare tumors such as pleuropulmonary blastoma
, Wilms tumor and cervical rhabdomyosarcoma
.
Closely related terms include arrhenoblastoma and androblastoma. Both terms are classified under Sertoli-Leydig cell tumour in MeSH
.
s lined by Sertoli cell
s and interstitial clusters of Leydig cell
s.
secreted by the tumour, one-third of female patients present with a recent history of progressive masculinization. Masculinization is preceded by anovulation
, oligomenorrhoea
, amenorrhoea
and defeminization
. Additional signs include acne
and hirsutism
, voice deepening, clitoromegaly
, temporal hair recession, and an increase in musculature. Serum testosterone level is high.
, as part of a pathology report made during or after surgery. See also Sex cord-stromal tumour
.
s, the focus of surveillance is on repeated physical examination and imaging. Given that many cases of Sertoli-Leydig cell tumor of the ovary are hereditary, referral to a clinical genetics service should be considered.
The prognosis
is generally good as the tumour tends to grow slowly and usually is benign
: 25% are malignant
. For malignant tumours with undifferentiated histology, prognosis is poor.
Sertoli-Leydig cell tumour is a member of the sex cord-stromal tumour
Sex cord-stromal tumour
Sex cord-gonadal stromal tumour is a group of tumours of sex cord-derived tissues of the ovary and testis. In humans, this group accounts for 8% of ovarian cancers and under 5% of testicular cancers. Their diagnosis is histological: only a biopsy of the tumour can make an exact diagnosis...
group of ovarian
Ovarian cancer
Ovarian cancer is a cancerous growth arising from the ovary. Symptoms are frequently very subtle early on and may include: bloating, pelvic pain, difficulty eating and frequent urination, and are easily confused with other illnesses....
and testicular cancer
Testicular cancer
Testicular cancer is cancer that develops in the testicles, a part of the male reproductive system.In the United States, between 7,500 and 8,000 diagnoses of testicular cancer are made each year. In the UK, approximately 2,000 men are diagnosed each year. Over his lifetime, a man's risk of...
s. The tumour is rare, comprising less than 1% of testicular tumours. While the tumour can occur at any age, it occurs most often in young adults. Recent studies have shown that many cases of Sertoli Leydig cell tumor of the ovary are caused by germline mutations in the DICER1
DICER1
Dicer1, Dcr-1 homolog , also known as DICER1, is a protein which in humans is encoded by the DICER1 gene. It is present in many organisms as Dicer.- Function :...
gene. These hereditary cases tend to be younger, often have a multinodular thyroid goiter and there may be a personal or family history of other rare tumors such as pleuropulmonary blastoma
Pleuropulmonary blastoma
Pleuropulmonary blastoma is a rare cancer originating in the lung or pleural cavity. It occurs most often in infants and young children but also has been reported in adults...
, Wilms tumor and cervical rhabdomyosarcoma
Rhabdomyosarcoma
A rhabdomyosarcoma is a type of cancer, specifically a sarcoma , in which the cancer cells are thought to arise from skeletal muscle progenitors. It can also be found attached to muscle tissue, wrapped around intestines, or in any anatomic location...
.
Closely related terms include arrhenoblastoma and androblastoma. Both terms are classified under Sertoli-Leydig cell tumour in MeSH
Medical Subject Headings
Medical Subject Headings is a comprehensive controlled vocabulary for the purpose of indexing journal articles and books in the life sciences; it can also serve as a thesaurus that facilitates searching...
.
Classification
The tumour is subdivided into many different subtypes. The most typical is composed of tubuleTubule
A tubule is a very small tube or fistular structure.A system of surface-connected membranes in muscle that enables a nerve impulse to travel to the interior of the muscle fibre.In anatomy, a tubule is a minute tube lined with glandular epithelium....
s lined by Sertoli cell
Sertoli cell
A Sertoli cell is a 'nurse' cell of the testes that is part of a seminiferous tubule.It is activated by follicle-stimulating hormone and has FSH-receptor on its membranes.-Functions:...
s and interstitial clusters of Leydig cell
Leydig cell
Leydig cells, also known as interstitial cells of Leydig, are found adjacent to the seminiferous tubules in the testicle. They produce testosterone in the presence of luteinizing hormone...
s.
Presentation
Due to excess testosteroneTestosterone
Testosterone is a steroid hormone from the androgen group and is found in mammals, reptiles, birds, and other vertebrates. In mammals, testosterone is primarily secreted in the testes of males and the ovaries of females, although small amounts are also secreted by the adrenal glands...
secreted by the tumour, one-third of female patients present with a recent history of progressive masculinization. Masculinization is preceded by anovulation
Anovulation
An anovulatory cycle is a menstrual cycle during which the ovaries do not release an oocyte. Therefore, ovulation does not take place. However, a woman who does not ovulate at each menstrual cycle is not necessarily going through menopause...
, oligomenorrhoea
Oligomenorrhea
Oligomenorrhea is infrequent menstruation. More strictly, it is menstrual periods occurring at intervals of greater than 35 days, with only four to nine periods in a year. Also, menstrual periods should have been regularly established previously before the development of infrequent flow...
, amenorrhoea
Amenorrhoea
Amenorrhoea , amenorrhea , or amenorrhœa, is the absence of a menstrual period in a woman of reproductive age. Physiological states of amenorrhoea are seen during pregnancy and lactation , the latter also forming the basis of a form of contraception known as the lactational amenorrhoea method...
and defeminization
Defeminization
Defeminization is a term in developmental biology, especially zoology, referring to an aspect of the process of sexual differentiation by which a potential female-specific structure, function, or behavior is prevented from developing by one of the processes of male development...
. Additional signs include acne
Acne vulgaris
Acne vulgaris is a common human skin disease, characterized by areas of skin with seborrhea , comedones , papules , pustules , Nodules and possibly scarring...
and hirsutism
Hirsutism
Hirsutism or frazonism is the excessive hairiness on women in those parts of the body where terminal hair does not normally occur or is minimal - for example, a beard or chest hair. It refers to a male pattern of body hair and it is therefore primarily of cosmetic and psychological concern...
, voice deepening, clitoromegaly
Clitoromegaly
Clitoromegaly is an abnormal enlargement of the clitoris ....
, temporal hair recession, and an increase in musculature. Serum testosterone level is high.
Diagnosis
Presence of an ovarian tumour plus hormonal disturbances suggests a Sertoli-Leydig cell tumour. However, hormonal disturbance is present in only 2/3 of cases. A conclusive diagnosis is made via histologyHistology
Histology is the study of the microscopic anatomy of cells and tissues of plants and animals. It is performed by examining cells and tissues commonly by sectioning and staining; followed by examination under a light microscope or electron microscope...
, as part of a pathology report made during or after surgery. See also Sex cord-stromal tumour
Sex cord-stromal tumour
Sex cord-gonadal stromal tumour is a group of tumours of sex cord-derived tissues of the ovary and testis. In humans, this group accounts for 8% of ovarian cancers and under 5% of testicular cancers. Their diagnosis is histological: only a biopsy of the tumour can make an exact diagnosis...
.
Treatment
The usual treatment is surgery. The surgery usually is a fertility-sparing unilateral salpingo-oophorectomy. For malignant tumours, the surgery may be radical and usually is followed by adjuvant chemotherapy, sometimes by radiation therapy. In all cases, initial treatment is followed by surveillance. Because in many cases Sertoli-Leydig cell tumour does not produce elevated tumour markerTumor marker
A tumor marker is a substance found in the blood, urine, or body tissues that can be elevated in cancer, among other tissue types. There are many different tumor markers, each indicative of a particular disease process, and they are used in oncology to help detect the presence of cancer...
s, the focus of surveillance is on repeated physical examination and imaging. Given that many cases of Sertoli-Leydig cell tumor of the ovary are hereditary, referral to a clinical genetics service should be considered.
The prognosis
Prognosis
Prognosis is a medical term to describe the likely outcome of an illness.When applied to large statistical populations, prognostic estimates can be very accurate: for example the statement "45% of patients with severe septic shock will die within 28 days" can be made with some confidence, because...
is generally good as the tumour tends to grow slowly and usually is benign
Benign
A benign tumor is a tumor that lacks the ability to metastasize. Common examples of benign tumors include moles and uterine fibroids.The term "benign" implies a mild and nonprogressive disease. Indeed, many kinds of benign tumors are harmless to human health...
: 25% are malignant
Malignant
Malignancy is the tendency of a medical condition, especially tumors, to become progressively worse and to potentially result in death. Malignancy in cancers is characterized by anaplasia, invasiveness, and metastasis...
. For malignant tumours with undifferentiated histology, prognosis is poor.