Předkládáme případ naší dlouhodobě sledované pacientky s radikálně resekovaným, IDH mutovaným glioblastomem s primitivní neuronální komponentou, která s pouze mírnými neurologickými komplikacemi žije již 9 let od stanovení diagnózy, se zachovalou velmi dobrou kvalitou života. Radikalita chirurgické resekce spolu s mutacemi IDH genů představují prognosticky příznivé faktory u high grade gliových nádorů centrální nervové soustavy.
We present a case of long-term followed-up patient with radically resected IDH mutant glioblastoma with a primitive neuronal component who has survived for 9 years with only moderate neurological complications and with a very good quality of life. Radicality of surgical resection together with mutations of the IDH genes are prognostically favourable factors in high grade glial neoplasms of the central nervous system.
- MeSH
- Anticonvulsants administration & dosage pharmacology MeSH
- Chemoradiotherapy methods MeSH
- Brain Edema drug therapy prevention & control MeSH
- Glioblastoma surgery pathology radiotherapy MeSH
- Carbamazepine administration & dosage MeSH
- Middle Aged MeSH
- Humans MeSH
- Brain Neoplasms * genetics surgery pathology MeSH
- Neuroectodermal Tumors, Primitive surgery pathology radiotherapy MeSH
- Temozolomide administration & dosage pharmacology MeSH
- Treatment Outcome MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Primary primitive neuroectodermal tumors (PNETs) are extremely rare in the lung and especially in adult women. We describe a case of PNET of the lung with aggressive behavior in 31-year-old woman. Diagnosis was based on histopathological and immunohistochemical studies, and confirmed by molecular genetic analysis of chromosome rearrangements in the EWSR1 gene region. Clinical follow-up, post-mortem findings, and differential diagnosis are also discussed.
- MeSH
- Anemia chemically induced pathology MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Fatal Outcome MeSH
- Humans MeSH
- Lung Neoplasms drug therapy pathology MeSH
- Neuroectodermal Tumors, Primitive drug therapy pathology MeSH
- Antineoplastic Agents adverse effects MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- MeSH
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Eye Neoplasms pathology MeSH
- Neuroectodermal Tumors, Primitive diagnosis surgery pathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Publication type
- Meeting Abstract MeSH
- Case Reports MeSH
- MeSH
- Child MeSH
- Eye Enucleation utilization MeSH
- Glaucoma etiology surgery therapy MeSH
- Humans MeSH
- Adolescent MeSH
- Eye Injuries complications therapy MeSH
- Neuroectodermal Tumors, Primitive diagnosis pathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Publication type
- Case Reports MeSH
In 1918, Stout defined the lesion in which small round cells originating from the ulnar nerve formed a rosette as neuroepithelioma. It was claimed that this tumor originated from neuroectodermis and was different from the classical neuroblastoma (1, 2). The term primitive neuroectodermal tumor (PNET) involves a group of tumors of the soft tissue originating from neural crest and resulting from the brain, spinal cord and branches of the sympathetic nervous system. Extracranial primitive neuroectodermal tumors originate from neural crest cells outside the sympathetic and central nervous system. PNET also has some distinctive histological, immunohistochemical and ultrastructural features. It is usually encountered in children and young adults; most frequently located in thoracopulmonary region (Askin’s tumor). The second most commonly involved body part is the extremities. It is very rarely located on the face (3-8). PNET is an aggressive tumor. In fact, the disease has a rapid progression, causes local or distant metastases and 50% of the patients die within two years of the presentation (7). It is treated with aggressive surgery as well as chemotherapy and radiotherapy. In this report, we presented a case of PNET located on the right cheek with multiple distant metastases. Clinicians should be on alert when treating facial tumors, not to skip PNET, which is a very aggressive one.
- MeSH
- Bone Marrow Cells pathology MeSH
- Child MeSH
- Karyotyping MeSH
- Humans MeSH
- RNA, Messenger genetics MeSH
- Kidney Neoplasms genetics pathology MeSH
- Reverse Transcriptase Polymerase Chain Reaction MeSH
- Neuroectodermal Tumors, Primitive genetics pathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Case Reports MeSH
