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Turkish Neurosurgery 2015Primary pineal melanoma is a rare tumor. We herein review the histogenesis, pathology, radiology and therapeutic options of this rare tumor. (Review)
Review
AIM
Primary pineal melanoma is a rare tumor. We herein review the histogenesis, pathology, radiology and therapeutic options of this rare tumor.
MATERIAL AND METHODS
We conducted a PUBMED search using a combination of keywords such as "primary pineal melanoma", "CNS melanoma", and "pineal tumor" and identified 16 cases of primary pineal melanoma. Clinical features, pathologic characteristics and treatment details of these patients were noted from respective case reports. We also describe a case of a 45-year-old Indian woman with primary pineal melanoma treated with a combination of surgery and post-op radiation.
RESULTS
The median age at presentation is 50 years. Median duration of symptoms is 6 weeks. Common symptoms at presentation include headache (58.8%), personality changes (41.2%), gait disturbance (35.3%) and Parinaud's syndrome (29.4%). Surgery, radiotherapy and chemotherapy have been used in 29.4%, 47.1% and 23.5% of patients respectively. Median overall survival is 56 weeks. Leptomeningeal dissemination and ventricular ependymal spread were noted in 70.6% and 35.3% patients, respectively.
CONCLUSION
Combined modality treatment comprising maximal safe surgery and post-operative radiation should be preferred in patients with localized pineal melanoma without leptomeningeal dissemination. Taking a cue from other subsites of melanoma, chemotherapy can perhaps be deferred until recurrence.
Topics: Female; Humans; Melanoma; Middle Aged; Pinealoma
PubMed: 26014001
DOI: 10.5137/1019-5149.JTN.6568-12.1 -
Neurology India 2021Pineal parenchymal tumors account for less than 0.3% of all CNS tumors and "Pineal parenchymal tumor of intermediate differentiation" (PPTID; World Health Organization... (Review)
Review
BACKGROUND
Pineal parenchymal tumors account for less than 0.3% of all CNS tumors and "Pineal parenchymal tumor of intermediate differentiation" (PPTID; World Health Organization (WHO) grades II and III) exhibit intermediary differentiation and prognosis. However "Papillary tumor of the pineal region" (PTPR; WHO grades II and III) is a distinct entity.
OBJECTIVES
This combination of rarity and apparent similarity often leads to perplexity regarding the treatment and prognosis among neurosurgeons. In this review, we have tried to elucidate the differences in clinical as well as treatment modalities and outcomes of these two entities.
METHODS
We used the PubMed Database to search for all relevant articles using the keywords "pineal parenchymal tumor of intermediate differentiation" and "Papillary tumor of the pineal region." Articles having details regarding demographic and clinical variables along with treatment and outcomes were chosen for this study. Full text of these articles was analyzed, and data tabulated.
RESULTS
A total of 25 articles for PPTID and 45 for PTPR were found suitable for inclusion in this study. The studies were either case reports or small retrospective series with only one systemic review for each pathology. Despite the poor quality of data, some trends were apparent. Surgical resection offered a survival benefit in both pathologies. Radiotherapy was effective in increasing the survival in PPTID, while there was little to no effect in PPTR. Chemotherapy was not found to be beneficial in either.
CONCLUSION
Both of these tumors have moderate growth rate and potential for malignant behavior. This continuum of characteristics makes their optimal treatment strategy difficult and confusing. The discussion on comprehensive literature review should give information for neurosurgeons to decide on optimal treatment strategies.
Topics: Brain Neoplasms; Humans; Pineal Gland; Pinealoma; Prognosis; Retrospective Studies
PubMed: 34747779
DOI: 10.4103/0028-3886.329550 -
Brain Tumor Research and Treatment Oct 2023This study aims to elucidate clinical features, therapeutic strategies, and prognosis of pineal parenchymal tumors (PPT) by analyzing a 30-year dataset of a single...
BACKGROUND
This study aims to elucidate clinical features, therapeutic strategies, and prognosis of pineal parenchymal tumors (PPT) by analyzing a 30-year dataset of a single institution.
METHODS
We reviewed data from 43 patients diagnosed with PPT at Seoul National University Hospital between 1990 and 2020. We performed survival analyses and assessed prognostic factors.
RESULTS
The cohort included 10 patients with pineocytoma (PC), 13 with pineal parenchymal tumor of intermediate differentiation (PPTID), and 20 with pineoblastoma (PB). Most patients presented with hydrocephalus at diagnosis. Most patients underwent an endoscopic third ventriculostomy and biopsy, with some undergoing additional resection after diagnosis confirmation. Radiotherapy was administered with a high prevalence of gamma knife radiosurgery for PC and PPTID, and craniospinal irradiation for PB. Chemotherapy was essential in the treatment of grade 3 PPTID and PB. The 5-year progression-free survival rates for PC, grade 2 PPTID, grade 3 PPTID, and PB were 100%, 83.3%, 0%, and 40%, respectively, and the 5-year overall survival rates were 100%, 100%, 40%, and 55%, respectively. High-grade tumor histology was associated with lower survival rates. Significant prognostic factors varied among tumor types, with World Health Organization (WHO) grade and leptomeningeal seeding (LMS) for PPTID, and the extent of resection and LMS for PB. Three patients experienced malignant transformations.
CONCLUSION
This study underscores the prognostic significance of WHO grades in PPT. It is necessary to provide specific treatment according to tumor grade. Grade 3 PPTID showed a poor prognosis. Potential LMS and malignant transformations necessitate aggressive multimodal treatment and close-interval screening.
PubMed: 37953449
DOI: 10.14791/btrt.2023.0033 -
Acta Neuropathologica Feb 2020Pineoblastomas (PBs) are rare, aggressive pediatric brain tumors of the pineal gland with modest overall survival despite intensive therapy. We sought to define the...
Pineoblastomas (PBs) are rare, aggressive pediatric brain tumors of the pineal gland with modest overall survival despite intensive therapy. We sought to define the clinical and molecular spectra of PB to inform new treatment approaches for this orphan cancer. Tumor, blood, and clinical data from 91 patients with PB or supratentorial primitive neuroectodermal tumor (sPNETs/CNS-PNETs), and 2 pineal parenchymal tumors of intermediate differentiation (PPTIDs) were collected from 29 centres in the Rare Brain Tumor Consortium. We used global DNA methylation profiling to define a core group of PB from 72/93 cases, which were delineated into five molecular sub-groups. Copy number, whole exome and targeted sequencing, and miRNA expression analyses were used to evaluate the clinico-pathologic significance of each sub-group. Tumors designated as group 1 and 2 almost exclusively exhibited deleterious homozygous loss-of-function alterations in miRNA biogenesis genes (DICER1, DROSHA, and DGCR8) in 62 and 100% of group 1 and 2 tumors, respectively. Recurrent alterations of the oncogenic MYC-miR-17/92-RB1 pathway were observed in the RB and MYC sub-group, respectively, characterized by RB1 loss with gain of miR-17/92, and recurrent gain or amplification of MYC. PB sub-groups exhibited distinct clinical features: group 1-3 arose in older children (median ages 5.2-14.0 years) and had intermediate to excellent survival (5-year OS of 68.0-100%), while Group RB and MYC PB patients were much younger (median age 1.3-1.4 years) with dismal survival (5-year OS 37.5% and 28.6%, respectively). We identified age < 3 years at diagnosis, metastatic disease, omission of upfront radiation, and chr 16q loss as significant negative prognostic factors across all PBs. Our findings demonstrate that PB exhibits substantial molecular heterogeneity with sub-group-associated clinical phenotypes and survival. In addition to revealing novel biology and therapeutics, molecular sub-grouping of PB can be exploited to reduce treatment intensity for patients with favorable biology tumors.
Topics: Adolescent; Adult; Age Factors; Brain Neoplasms; Child; Child, Preschool; Cohort Studies; Female; Humans; Infant; Male; MicroRNAs; Mutation; Pineal Gland; Pinealoma; Registries; Survival Rate; Young Adult
PubMed: 31820118
DOI: 10.1007/s00401-019-02111-y -
Obstetric Medicine Sep 2021Pineoblastoma is an extremely rare intracranial neoplasm, with increased risk of craniospinal metastasis. There is only one case reported in the literature who presented...
Pineoblastoma is an extremely rare intracranial neoplasm, with increased risk of craniospinal metastasis. There is only one case reported in the literature who presented during pregnancy. Described here is a woman who presented at five months of gestation with recurrence of pineoblastoma, who had previously defaulted adjuvant therapy following surgical decompression. The challenges in the diagnosis and treatment of pineoblastoma and its effects on pregnancy are also discussed.
PubMed: 34646348
DOI: 10.1177/1753495X20958339 -
Pediatric Blood & Cancer Jun 2020We report the outcomes of patients with pineoblastoma and trilateral retinoblastoma syndrome enrolled on the Head Start (HS) I-III trials.
BACKGROUND
We report the outcomes of patients with pineoblastoma and trilateral retinoblastoma syndrome enrolled on the Head Start (HS) I-III trials.
METHODS
Twenty-three children were enrolled prospectively between 1991 and 2009. Treatment included maximal surgical resection followed by five cycles of intensive chemotherapy and consolidation with marrow-ablative chemotherapy and autologous hematopoietic cell rescue (HDCx/AuHCR). Irradiation following consolidation was reserved for children over six years of age or those with residual tumor at the end of induction.
RESULTS
Median age was 3.12 years (range, 0.44-5.72). Three patients withdrew from the study treatment and two patients experienced chemotherapy-related death. Eight patients experienced progressive disease (PD) during induction chemotherapy and did not proceed to HDCx/AuHCR. Ten patients received HDCx/AuHCR; eight experienced PD post-consolidation. Seven patients received craniospinal irradiation (CSI) with a median dose of 20.7 Gy (range, 18-36 Gy) with boost(s) (median dose 27 Gy; range, 18-36 Gy); three received CSI as adjuvant therapy (two post-HDCx/AuHCR) and four upon progression/recurrence. The five-year progression-free survival (PFS) and overall survival (OS) were 9.7% (95% confidence intervals [CI]: 2.6%-36.0%) and 13% (95% CI: 4.5%-37.5%), respectively. Only three patients survived beyond five years. Favorable OS prognostic factors were CSI (hazard ratio [HR] = 0.30 [0.11-0.86], P = 0.025) and HDCx/AuHCR (HR = 0.40 [0.16-0.99], P = 0.047).
CONCLUSIONS
Within the HS I-III trials, CSI and HDCx/AuHCR were statistically associated with improved survival. The high PD rate during later induction cycles and following consolidation chemotherapy warrants consideration of fewer induction cycles prior to consolidation and the potential intensification of consolidation with multiple cycles of marrow-ablative chemotherapy and irradiation.
Topics: Brain Neoplasms; Child; Child, Preschool; Combined Modality Therapy; Female; Follow-Up Studies; Humans; Infant; Male; Pineal Gland; Pinealoma; Prognosis; Prospective Studies; Survival Rate
PubMed: 32187454
DOI: 10.1002/pbc.28252 -
Problemy Endokrinologii Oct 2023DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a... (Review)
Review
DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations - multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non-endocrine formations - pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.
Topics: Humans; Ribonuclease III; DEAD-box RNA Helicases; Mutation; Female; Thyroid Neoplasms; Goiter, Nodular; Pulmonary Blastoma
PubMed: 38796764
DOI: 10.14341/probl13383 -
The Neuroradiology Journal Apr 2015Diffusion weighted imaging (DWI) has been shown to be helpful in characterizing tumor cellularity, and predicting histology. Several works have evaluated this technique...
BACKGROUND
Diffusion weighted imaging (DWI) has been shown to be helpful in characterizing tumor cellularity, and predicting histology. Several works have evaluated this technique for pineal tumors; however studies to date have not focused on pediatric pineal tumors.
OBJECTIVE
We evaluated the diffusion characteristics of pediatric pineal tumors to confirm if patterns seen in studies using mixed pediatric and adult populations remain valid.
MATERIALS AND METHODS
This retrospective study was performed after Institutional Review Board approval. We retrospectively evaluated all patients 18 years of age and younger with pineal tumors from a single institution where preoperative diffusion weighted imaging as well as histologic characterization was available.
RESULTS
Twenty patients (13 male, 7 female) with pineal tumors were identified: seven with pineoblastoma, four with Primitive Neuroectodermal Tumor (PNET), two with other pineal tumors, and seven with germ cell tumors including two germinomas, three teratomas, and one mixed germinoma-teratoma. The mean apparent diffusion coefficient (ADC) values in pineoblastoma (544 ± 65 × 10⁻⁶ mm²/s) and pineoblastoma/PNET (595 ± 144 × 10⁻⁶ mm²/s) was lower than that of the germ cell tumors (1284 ± 334 × 10⁻⁶ mm²/s; p < 0.0001 vs pineoblastoma). One highly cellular germinoma had an ADC value of 694 × 10⁻⁶ mm²/s.
CONCLUSION
ADC values can aid in differentiation of pineoblastoma/PNET from germ cell tumors in a population of children with pineal masses.
Topics: Adolescent; Brain Neoplasms; Child; Child, Preschool; Diffusion Magnetic Resonance Imaging; Female; Humans; Infant; Male; Pineal Gland; Pinealoma; Reproducibility of Results; Retrospective Studies; Sensitivity and Specificity
PubMed: 25963154
DOI: 10.1177/1971400915581741 -
International Journal of Surgery... Dec 2023The pineal region tumors are challenging for neurosurgeons and can lead to secondary hydrocephalus. The introduction of the exoscope has provided clinical interventions...
BACKGROUND
The pineal region tumors are challenging for neurosurgeons and can lead to secondary hydrocephalus. The introduction of the exoscope has provided clinical interventions with high image quality and an ergonomic system for pineal region tumor operations. In this study, the authors describe the exoscopic approach used to facilitate the surgical resection of pineal region tumors and relieve hydrocephalus.
MATERIALS AND METHODS
In this retrospective cohort study, we consecutively reviewed the clinical and radiological data of 25 patients with pineal region lesions who underwent three-dimensional exoscopic tumor resection at a single center.
RESULTS
The patient cohort consisted of 16 males and 9 females, with an average age of 34.6 years (range, 6-62 years; 8 cases aged ≤18). Pathological examination confirmed eight pineal gland tumors, four gliomas, nine germ cell neoplasms, two ependymomas, and two metastatic tumors. Preoperative hydrocephalus was present in 23 patients. Prior to tumor resection, external ventricular drainage (EVD) with Ommaya reservoir implantation was performed in 17 patients. Two patients received preoperative endoscopic third ventriculostomy (ETV), and five patients received a ventriculoperitoneal (VP) shunt, including one who received both procedures. Gross total resection was achieved in 19 patients (76%) in the 'head-up' park bench position using the exoscope. Eight patients (31.6%) with third ventricle invasion received subtotal resection, mainly in glioma cases, which was higher than those without invasion (0%), but not statistically significant ( P =0.278, Fisher's exact test). No new neurological dysfunction was observed after surgery. Two patients (8%) developed intracranial and pulmonary infections, and two patients (8%) suffered from pneumothorax. Hydrocephalus was significantly relieved in all patients postoperatively, and four patients with relapse hydrocephalus were cured during the long-term follow-up. Postoperative adjuvant management was recommended for indicated patients, and a mean follow-up of 24.8±14.3 months showed a satisfied outcome.
CONCLUSIONS
The exoscope is a useful tool for pineal region tumor resection and hydrocephalus relief, particularly with posterior third ventricle invasion, as total resection could be achieved without obvious complication. The special superiority of the exoscope for the indicated pineal region tumors should be highlighted.
Topics: Male; Female; Humans; Adult; Pinealoma; Retrospective Studies; Treatment Outcome; Neoplasm Recurrence, Local; Pineal Gland; Glioma; Ventriculostomy; Third Ventricle; Hydrocephalus; Brain Neoplasms
PubMed: 37755386
DOI: 10.1097/JS9.0000000000000707 -
Unedited microneurosurgery of a high-grade pineal parenchymal tumor of intermediate differentiation.Surgical Neurology International 2018WHO Grade II-III pineal parenchymal tumors of intermediate differentiation (PPTIDs) were included in the 2007 World Health Organization Classification of Central Nervous...
BACKGROUND
WHO Grade II-III pineal parenchymal tumors of intermediate differentiation (PPTIDs) were included in the 2007 World Health Organization Classification of Central Nervous System Tumors as pineal parenchymal tumors between pineocytomas and pineoblastomas. PPTIDs comprise more than 20-60% of all pineal parenchymal tumors (PPT) s and are characterized by moderately high cellularity, mild-to-moderate nuclear atypia, and low-to-moderate mitotic activity. Moreover, PPTID includes transitional cases in which pineocytomatous and pineoblastoma features are associated. Synaptophysin and neuron-specific enolase are usually positive, with variable reactivity to neurofilament protein, chromogranin A, retinal S-antigen, and S-100 protein. PPTID Grades II and III can be distinguished on the basis of mitotic activity (higher in high-grade PPTID) and neurofilament protein immunoreactivity (higher in low-grade PPTID). Herein, we present the microsurgical management of a histologically confirmed high-grade PPTID.
CASE DESCRIPTION
A patient with high grade PPTID underwent sitting praying position and right paramedian supracerebellar infratentorial approach. The lesion was identified after lateral opening of the quadrigeminal cistern, followed by removal of its cystic component. Tissue samples were obtained under high microscopic magnification, and internal debulking of the tumor was performed with ring microforceps and bipolar forceps in the right hand and a thumb-regulated suction tube in the left hand. Continuous water irrigation provided us a clean surgical field and the recognition of small bleeding vessels. Moreover, water dissection technique was applied to recognize the cleavage plane of the tumor. Bipolar coagulation forceps were used to shrink the tumor and remove it by piecemeal reduction aiming to identify the anterior and lateral limits of the lesion. The poorly differentiated borders between the tumor and the surrounding parenchyma were determined under microscopic vision. Small vessels feeding the tumor were coagulated and cut. The most critical surgical stage was related with removal of some tumor remnants attached to the internal cerebral veins. A meticulous and skillful dissection was essential aiming to preserve these vascular structures. The final steps included meticulous hemostasis with electrocoagulation, Tachosil, and Surgicel. The postoperative course was uneventful. The patient underwent adjuvant radiotherapy and currently is alive, free of tumor recurrence 4 years after surgery.
CONCLUSION
This unedited video offers all detailed aspects that are, as the senior author JH considers, essential for a neurosurgeon when performing an efficient and safe surgery for a high-grade PPTID.
VIDEOLINK
http://surgicalneurologyint.com/videogallery/pineal-tumor-2.
PubMed: 30603232
DOI: 10.4103/sni.sni_353_18