Workstream 3 - ERN eUROGEN

Workstream 3: Rare urogenital tumours

Workstream 3 focuses on rare urogenital tumours. The Expertise Areas (EAs) covered by Workstream 3 are below.

A key part of EU health strategy is Europe’s Beating Cancer Plan, enhancing the cancer journey from prevention to survivorship. Network-generated literature underscores the effectiveness of a centralised approach for penile, testicular, adrenal, and soft tissue cancers. Specialised surgical training will increase organ preservation rates and decrease cancer mortality.

Leads

WS Lead: Hans Langenhuijsen, NL Nijmegen Radboudumc
Clinical Lead: Peter-Paul Willemse, NL Utrecht UMC
Education Lead: Mariangela Mancini, IT
Research Lead: vacant

EA 3.1 Penile cancer

Definition	Penile cancer is a rare type of cancer that develops in the tissues of the penis. It usually starts in the skin cells of the penis, but it can also start in the cells of the glands or other structures within the penis. While the exact cause of penile cancer is unknown, symptoms may include a sore or growth on the penis, bleeding, discharge, or a change in the appearance of the skin of the penis. Penile cancer is usually diagnosed through a biopsy, in which a sample of tissue from the affected area is examined under a microscope. Treatment for penile cancer may include surgery, radiation therapy, chemotherapy, or a combination of these. The choice of treatment depends on the stage and location of the cancer, as well as the patient’s overall health and personal preferences.
Conditions & Codes	Malignant tumour of penis: ORPHAcode 398043 / ICD-10 Code C60
EAC, Vice-EAC & ePAGs	Expertise Area Coordinator: Oscar Brouwer, NL Amsterdam AvL Vice-EAC: Marco Falcone, IT Turin AOU ePAGs: John Osborne, independent, Kenneth Manzie, independent, and Rob Cornes, Orchid
Healthcare Providers	BE Leuven UZ, IT Padua AOU, NL Amsterdam AvL
Additional Resources	EAU-ASCO Penile Cancer Guidelines & Penile Cancer: EAU-ASCO Collaborative Guidelines Update Q and A. ERN eUROGEN clinical experts and ePAG advocates have been involved in the development of these updated clinical practice guidelines in collaboration with the Guidelines Office of our Supporting Partner, the European Association of Urology (EAU). EAU Penis Cancer Patient Information. The European Association of Urology (EAU) Patient Office provides reliable patient information on urology conditions and urology health. Penile cancer. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Patient Journey (Click here to download as a PDF)	ERN eUROGEN Penile Cancer Patient Journey 120722

Information & Awareness Videos

The below information and awareness videos were produced by ERN eUROGEN in partnership with Orchid and the European Association of Urology Patient Office. They were funded by the European Union.

EA 3.2 Testicular cancer

Definition	Testicular cancer is a type of cancer that develops in the cells of the testicles, which are the male reproductive glands that produce sperm and hormones. It is a relatively rare form of cancer, but it is the most common cancer in young people with testicles aged 15 to 35 years. The exact cause of testicular cancer is unknown, but certain risk factors have been identified, including having a family history of the disease, having an undescended testicle, having a personal history of testicular cancer, and having abnormal testicular development. Symptoms of testicular cancer may include a lump or swelling in one or both testicles, pain or discomfort in the testicles or scrotum, a feeling of heaviness in the scrotum, and enlargement or tenderness of the breasts. Testicular cancer is usually diagnosed through a physical exam, imaging tests such as ultrasound, and blood tests to check for tumour markers. Treatment for testicular cancer typically involves surgery to remove the affected testicle, followed by radiation therapy, chemotherapy, or a combination of these, depending on the stage and type of cancer.
Conditions & Codes	Tumour of testis and paratestis: ORPHAcode 363472 / ICD-10 Code C62
EAC, Vice-EAC & ePAG	Expertise Area Coordinator: Yue Che, DE Düsseldorf UK Vice-EAC: Tomas Buchler, CZ Prague Thomayer Patient Representative: Rob Cornes, Orchid
Healthcare Providers	BE Leuven UZ, CZ Prague Thomayer, DE Düsseldorf UK, DE Hamburg-Eppendorf UK, ES Barcelona Fundació Puigvert, ES Santander Valdecilla, HR Zagreb KBC, IT Padua AOU, LT Vilnius SK, NL Rotterdam Erasmus, NL Amsterdam AvL, NL Utrecht UMC, PT Porto IPO
Additional Resources	EAU Testicular Cancer Guidelines. These guidelines aim to present the current evidence for the diagnosis and treatment of patients with cancer of the testis. European Association of Urology Guidelines on Testicular Cancer: 2023 Update. This article presents a summary of the European Association of Urology guidelines on testicular cancer published in 2023 and includes the latest recommendations for the management of this disease. The guidelines are a valuable resource that may help patients in understanding treatment recommendations. EAU Testicular Cancer Patient Information. The European Association of Urology (EAU) Patient Office provides reliable patient information on urology conditions and urology health. Testicular cancer. Disease InfoSearch page.

EA 3.3 Adrenal tumours

Definition	Adrenal tumours are growths that develop in the adrenal glands, which are located on top of each kidney and are responsible for producing hormones that regulate blood pressure, metabolism, and the body’s response to stress. Adrenal tumours can be benign (non-cancerous) or malignant (cancerous). Benign tumours are more common and usually do not cause symptoms unless they are large or produce excess hormones. Malignant tumours can spread to other parts of the body and can cause symptoms such as abdominal pain, weight loss, and high blood pressure. Diagnosis of adrenal tumours usually involves blood tests to measure hormone levels, imaging tests, and sometimes a biopsy to examine a sample of the tumour tissue. Treatment for adrenal tumours depends on the type and size of the tumour, as well as the patient’s overall health. Treatment options may include surgery to remove the tumour, radiation therapy, chemotherapy, or medications to control hormone levels.
Conditions & Codes	Benign neoplasm of pituitary gland: ICD-10 Code D35.2 Cushing syndrome: ICD-10 Codes E24.0, E24.8 Adrenogenital disorders: ICD-10 Code E25.0 Phakomatoses, not elsewhere classified: ICD-10 Code Q85.8 Von Hippel-Lindau disease: ORPHAcode 892 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form: ORPHAcode 315311 Rare primary hyperaldosteronism: ORPHAcode 181415 / ICD-10 Code E26.0
EAC & Vice-EAC	Expertise Area Coordinator: Hans Langenhuijsen, NL Nijmegen Radboudumc Vice-EAC: Nikola Knežević, HR Zagreb KBC
Healthcare Providers	BE Leuven UZ, ES Barcelona Fundació Puigvert, ES Santander Valdecilla, HR Zagreb KBC, LT Vilnius SK, NL Nijmegen Radboudumc, SE Lund SUS
Additional Resources	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Cushing’s Syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Hyperaldosteronism. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Pituitary Network Association. To support, pursue, encourage, promote, and, where possible, fund research on pituitary disorders in a sustained and full-time effort to find a cure for these illnesses. The PNA will disseminate information helpful to the medical community, the public, and to pituitary patients and their families on matters regarding early detection, symptoms, treatments and resources available to patients with pituitary disease. von Hippel-Lindau disease. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.

EA 3.4 Abdomino-pelvic sarcoma

Definition	Abdomino-pelvic sarcoma is a rare type of cancer that develops in the soft tissue of the abdomen and pelvis. Soft tissue sarcomas are a group of cancers that arise from the tissues that support and connect the body, such as muscle, fat, and connective tissue. Abdomino-pelvic sarcomas are typically slow-growing tumours that can be difficult to diagnose because they often do not cause symptoms until they are quite large. Common symptoms of this type of cancer may include abdominal pain, bloating, a feeling of fullness, and unexplained weight loss. The exact cause of abdomino-pelvic sarcoma is unknown, but certain risk factors have been identified, including a family history of soft tissue sarcoma, exposure to radiation therapy, and certain genetic conditions. Diagnosis of abdomino-pelvic sarcoma usually involves imaging tests, as well as a biopsy to examine a sample of the tumour tissue. Treatment for this type of cancer may include surgery to remove the tumour, radiation therapy, and chemotherapy. The choice of treatment depends on the size and location of the tumour, as well as the patient’s overall health and personal preferences.
Conditions & Codes	Kaposi sarcoma: ICD-10 Code C46.9 Malignant neoplasm of peripheral nerves of abdomen and pelvis: ICD-10 Codes C47.4, C47.5 Malignant neoplasm of retroperitoneum and peritoneum: ICD-10 Code C48 Malignant neoplasm of other connective and soft tissue of abdomen and pelvis: ICD-10 Codes C49.4, C49.5
EAC & Vice-EAC	Expertise Area Coordinator: vacant Vice-EAC: vacant
Healthcare Providers	BE Leuven UZ, ES Barcelona Fundació Puigvert, IT Padua AOU, LT Vilnius SK
Additional Resources	Kaposi Sarcoma. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Soft tissue sarcoma. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.

EA 3.5 Rare renal tumour surgery

Definition	Rare renal tumour surgery refers to surgical procedures performed to remove tumours that develop in the kidney and are considered rare or uncommon. These tumours include various types of benign and malignant growths, such as renal cell carcinoma (RCC), Wilms tumour, transitional cell carcinoma, and rare forms of sarcoma. The surgical treatment for rare renal tumours depends on the size, location, and stage of the tumour, as well as the patient’s overall health and personal preferences. Common surgical procedures used to treat renal tumours include radical nephrectomy, partial nephrectomy, and laparoscopic surgery. In addition to surgery, other treatments may be used to treat rare renal tumours, including radiation therapy, chemotherapy, and targeted therapies. The choice of treatment depends on the type and stage of the tumour, as well as the patient’s overall health and personal preferences.
Conditions & Codes	Renal cell carcinoma: ORPHAcode 217071 / ICD-10 Code C64 Malignant neoplasm of adrenal gland: ICD-10 Code C74 Secondary malignant neoplasm of other and unspecified sites: ICD-10 Code C79.8 Neoplasm of uncertain or unknown behaviour of urinary organs: ICD-10 Code D41 Neoplasm of uncertain or unknown behaviour of adrenal gland: ICD-10 Code D44.1 Other venous embolism and thrombosis of of vena cava and renal vein: ICD-10 Codes I82.2, I82.3
EAC & Vice-EAC	Expertise Area Coordinator: vacant Vice-EAC: vacant
Healthcare Providers	ES Barcelona Fundació Puigvert, ES Santander Valdecilla, NL Nijmegen Radboudumc
Additional Resources	EAU Renal Cell Carcinoma Guidelines. The European Association of Urology (EAU) Renal Cell Cancer (RCC) Guidelines Panel has compiled these clinical guidelines to provide urologists with evidence-based information and recommendations for the management of RCC. EAU Renal Transplantation Guidelines. The European Association of Urology (EAU) Renal Transplantation Guidelines aim to provide a comprehensive overview of the medical and technical aspects relating to renal transplantation. Renal cell carcinoma. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.