Peripheral primitive neuroectodermal tumor | UniteRare Disease Library

Overview

Peripheral primitive neuroectodermal tumor (pPNET) is a rare and aggressive type of cancer that belongs to the Ewing sarcoma family of tumors. These tumors arise from primitive nerve cells found outside the brain and spinal cord, typically developing in soft tissues or bones of the body. Common locations include the chest wall, pelvis, arms, legs, and abdomen. pPNET is sometimes also called extracranial primitive neuroectodermal tumor or peripheral neuroepithelioma. The disease most often affects children, teenagers, and young adults, though it can occur at any age. Symptoms depend on where the tumor grows but often include a noticeable lump or swelling, pain in the affected area, and general symptoms like fatigue, fever, or weight loss. If the tumor presses on nearby organs or nerves, it can cause additional problems such as difficulty breathing or numbness. Treatment typically involves a combination of chemotherapy, surgery, and radiation therapy. Because pPNET tends to grow quickly and can spread to other parts of the body (metastasize), early and aggressive treatment is important. The treatment approach is very similar to that used for Ewing sarcoma, as these tumors share the same genetic changes. Advances in chemotherapy regimens have improved outcomes, but the prognosis remains challenging, especially when the cancer has already spread at the time of diagnosis.

Also known as:

Peripheral neuroepithelioma PPNET Peripheral PNET

Key symptoms:

Painful lump or swelling in the affected areaA mass that can be felt under the skinBone painUnexplained fatigue and tirednessFever without an obvious causeUnintended weight lossDifficulty breathing if the tumor is in the chestNumbness or tingling if the tumor presses on nervesReduced movement or stiffness near the tumorSwelling that gets bigger over timeBack pain if the tumor is near the spineLoss of appetite

Clinical phenotype terms (37)— hover any for plain English

Peripheral primitive neuroectodermal neoplasmHP:0030067Abnormal scalp morphologyHP:0001965Neoplasm of the pancreasHP:0002894

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event

Dec 2014Combination Chemotherapy With or Without Ganitumab in Treating Patients With Newly Diagnosed Metastatic Ewing Sarcoma

National Cancer Institute (NCI) — PHASE3

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

Enhertu

fam-trastuzumab deruxtecan-nxki· Daiichi Sankyo, Inc.■ Boxed WarningAccelerated Approval

as monotherapy for the treatment of adult patients with unresectable or metastatic HER2-positive (IHC 3+) solid tumors who have received prior systemic treatment and have no satisfactory alternative t…

as monotherapy for the treatment of adult patients with unresectable or metastatic HER2-positive (IHC 3+) solid tumors who have received prior systemic treatment and have no satisfactory alternative treatment options

View Details →FDA Label ↗Copay Card ↗Patient Assistance ↗

Clinical Trials

1 recruitingView all trials with filters →

Phase 31 trial

Combination Chemotherapy With or Without Ganitumab in Treating Patients With Newly Diagnosed Metastatic Ewing Sarcoma

Phase 3

Active

PI: Steven G DuBois (Children's Oncology Group) · Sites: Birmingham, Alabama; Mobile, Alabama +313 more · Age: 0–50 yrs

Specialists

Showing 25 of 33View all specialists →

SA

Shuaa Aljabri

Specialist