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The Journal of International Medical... Jun 2020Primitive neuroectodermal tumours (PNETs) are rare malignant small round cell tumours. Notably, despite widespread reports of PNET in multiple parts of the body, it is... (Review)
Review
Primitive neuroectodermal tumours (PNETs) are rare malignant small round cell tumours. Notably, despite widespread reports of PNET in multiple parts of the body, it is extremely rare in the pelvis. Here, a rare case of giant PNET of the pelvis, that was treated with surgical intervention comprising hemipelvectomy and amputation, is reported. A 42-year-old female patient presented with an enlarged mass on the left hip and severe pain in the left lower extremity for the previous 6 months. Preoperative imaging examinations indicated an irregular soft tissue-like signal shadow sized 19 × 15 × 12 cm at the left ilium and sacrum. After surgical intervention involving left hemipelvectomy and amputation, the tumour was diagnosed by pathology as PNET. During the courses of postoperative radiotherapy and chemotherapy, local recurrence and distant metastasis occurred, and the patient died 9 months following surgical treatment. To the best of the authors' knowledge, the current case is the largest pelvic PNET resection reported to date. Pelvic PNET is extremely malignant and has a high mortality rate regardless of surgical treatment, however, surgical resection of the lesion may relieve the symptoms, extend life, and improve quality of life to a certain extent.
Topics: Adult; Biopsy; Female; Humans; Neoplasm Recurrence, Local; Neuroectodermal Tumors, Primitive; Pelvic Neoplasms; Pelvis; Quality of Life
PubMed: 32500784
DOI: 10.1177/0300060520906747 -
Eye (London, England) Apr 2023Ocular medulloepithelioma (diktyoma) is a rare and potentially malignant paediatric tumour of the non-pigmented ciliary epithelium. Adjuvant chemotherapy can be given in...
BACKGROUND
Ocular medulloepithelioma (diktyoma) is a rare and potentially malignant paediatric tumour of the non-pigmented ciliary epithelium. Adjuvant chemotherapy can be given in advanced cases, but the indications and regimens remain to be defined. The aim was to identify whether adjuvant chemotherapy offers treatment benefit in advanced ocular medulloepithelioma.
METHODS
This was a retrospective case series of subjects referred to a single specialist ocular oncology centre for advanced ocular medulloepithelioma subsequently treated with enucleation, including those needing adjuvant systemic vincristine, etoposide and carboplatin. A case-note review was performed for included subjects meeting referral criteria. The outcomes were histopathology characteristics, recurrence, metastases and survival.
RESULTS
Between March 2010 and June 2017, four male patients (mean age 31 months) underwent enucleation for ocular medulloepithelioma. Adjuvant chemotherapy was commenced in 3 patients (75%) due to malignant histopathological features. With a mean follow-up time of 81.5 months (median 71 months, range 49-135 months) none of the patients have had recurrence, metastases or death from the tumour.
CONCLUSIONS
This series is unique in reporting the management of advanced malignant ocular medulloepithelioma with adjuvant systemic vincristine, etoposide and carboplatin for advanced tumours with malignant features. This regimen appears to be safe and may be effective in preventing metastatic spread.
Topics: Child; Humans; Male; Child, Preschool; Retrospective Studies; Carboplatin; Etoposide; Vincristine; Eye Enucleation; Chemotherapy, Adjuvant; Neuroectodermal Tumors, Primitive; Antineoplastic Combined Chemotherapy Protocols
PubMed: 35105935
DOI: 10.1038/s41433-022-01936-4 -
Medicine Jan 2018PNETs (primitive neuroectodermal tumors) are a family of highly malignant neoplasms characterized by small round cells of neuroepithelial origin. They usually involve... (Review)
Review
RATIONALE
PNETs (primitive neuroectodermal tumors) are a family of highly malignant neoplasms characterized by small round cells of neuroepithelial origin. They usually involve bone and soft tissues, and have a higher incidence in childhood.
PATIENT CONCERNS
In this case report, we describe the obstetric and oncological outcome of a huge mass diagnosed as a leiomyoma in a 39-year-old pregnant woman who complained of low back pain, dysuria, and urinary frequency at 22 weeks of gestation.
DIAGNOSES
During the 25th week of pregnancy, the patient was referred to our hospital at night with severe anemia and suspected hemoperitoneum. She underwent an emergency caesarean section, delivering a female fetus weighing 400 g, with an Apgar score of 7 at 1 minute and 9 at 5 minutes.
INTERVENTION
During surgery, we found a huge uterine sarcoma-like metastatic tumor, invading the pelvic peritoneum and parametria bilaterally; the adnexae seemed disease-free. We performed a type B radical hysterectomy, bilateral salpingo-oophorectomy, pelvic peritonectomy, omentectomy, appendectomy, and excision of a bulky lymph node. Seven days after delivery, staging computed tomography (CT) scan demonstrated a large lombo-aortic lymph node compressing the left renal vein and we completed debulking with a second surgery, including diaphragmatic peritonectomy and excision of a huge lymph node by lombo-aortic lymphadenectomy, requiring partial reconstruction of an infiltrated renal vein.
OUTCOME
Ten days after the second surgery, echo-color Doppler showed a regular microcirculation in the left kidney. The patient was discharged after 10 days, and the baby after 1 month, both in good health.Histological examination revealed a uterine body cPNET (central primitive neuroectodermal tumor) orienting the clinical management toward chemotherapy with cisplatin and etoposide.
LESSONS
PNETs are aggressive neoplasms, usually diagnosed at an advanced stage. Due to their low incidence, universally accepted guidelines are still unavailable. Radical surgery leaving no macroscopic residual disease is mandatory in advanced stages. A good fertility-sparing procedure can be performed only in young women at early stages of disease, when the wish for childbearing is not yet fulfilled.
Topics: Adult; Cesarean Section; Emergency Medical Services; Female; Humans; Infant, Newborn; Neuroectodermal Tumors, Primitive; Pregnancy; Pregnancy Complications, Neoplastic; Uterine Neoplasms; Uterus
PubMed: 29480840
DOI: 10.1097/MD.0000000000009505 -
Medicine Nov 2020Primitive neuroectodermal tumor (PNET) of the urinary bladder is a highly aggressive tumor with high local recurrence and distant metastasis rates in cases of incomplete... (Review)
Review
RATIONALE
Primitive neuroectodermal tumor (PNET) of the urinary bladder is a highly aggressive tumor with high local recurrence and distant metastasis rates in cases of incomplete excision. We report a case of a young female patient, in whom early laparoscopic radical cystectomy combined with standard lymph node dissection and a modified vincristine, doxorubicin hydrochloride, and cyclophosphamide (VAC) chemotherapy regimen was controversial. Because PNET of the urinary bladder is a rare malignancy, the standard treatment regimen has not yet been established. It is not clear whether surgery combined with postoperative chemotherapy for PNET patients may be superior to surgery alone on long term survival.
PATIENT CONCERNS
The patient was a 45-year-old Chinese woman who complained of lower urinary tract symptoms, including urgency, frequency, and difficulty in urination, for 2 months.
DIAGNOSES
PNET.
INTERVENTIONS
The patient underwent laparoscopic radical cystectomy and standard lymph node dissection, combined with modified VAC chemotherapy regimens.
OUTCOMES
After undergoing radical surgery in 2018, the patient completed 6 courses of adjuvant chemotherapy. Abdominal and thorax computed tomography scanning was performed 3, 6, 9, and 12 months after the surgery was completely free of tumor. The patient is still alive with no signs of recurrent disease 2 years after diagnosis.
LESSONS
Radical surgery and standard lymphadenectomy combined with adjuvant chemotherapy may be essential to improve the prognosis of PNET of the urinary bladder.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Antineoplastic Combined Chemotherapy Protocols; Chemotherapy, Adjuvant; Child; Combined Modality Therapy; Cyclophosphamide; Cystectomy; Dactinomycin; Female; Humans; Laparoscopy; Lymph Node Excision; Male; Middle Aged; Neuroectodermal Tumors, Primitive; Treatment Outcome; Urinary Bladder Neoplasms; Vincristine
PubMed: 33157954
DOI: 10.1097/MD.0000000000023032 -
BMC Ophthalmology Jun 2020Intraocular medulloepithelioma is commonly treated with primary enucleation. Conservative treatment options include brachytherapy, local resection and/or cryotherapy in...
BACKGROUND
Intraocular medulloepithelioma is commonly treated with primary enucleation. Conservative treatment options include brachytherapy, local resection and/or cryotherapy in selected cases. We report for the first time the use of targeted chemotherapy to treat a ciliary body medulloepithelioma with aqueous and vitreous seeding.
CASE PRESENTATION
A 17-month-old boy with a diagnosis of ciliary body medulloepithelioma with concomitant seeding and neovascular glaucoma in the right eye was seen for a second opinion after parental refusal of enucleation. Examination under anesthesia showed multiple free-floating cysts in the pupillary area associated with iris neovascularization and a subluxated and notched lens. Ultrasound biomicroscopy revealed a partially cystic mass adjacent to the ciliary body between the 5 and 9 o'clock meridians as well as multiple nodules in the posterior chamber invading the anterior vitreous inferiorly. Fluorescein angiography demonstrated peripheral retinal ischemia. Left eye was unremarkable. Diagnosis of intraocular medulloepithelioma with no extraocular invasion was confirmed and conservative treatment initiated with combined intracameral and intravitreal melphalan injections given according to the previously described safety-enhanced technique. Ciliary tumor and seeding totally regressed after a total of 3 combined intracameral (total dose 8.1 μg) and intravitreal (total dose 70 μg) melphalan injections given every 7-10 days. Ischemic retina was treated with cryoablation as necessary. Three years later, ab interno trabeculotomy followed by 360° gonioscopy-assisted transluminal trabeculotomy 6 months later was performed for uncontrolled intraocular pressure despite antihypertensive drugs combined to cyclophotocoagulation and 7 intravitreal anti-VEGF injections for recurrent iris neovascularization. Cataract was removed at the same operative time. The child has remained disease- and metastasis-free at a 5-year follow-up since the last melphalan injection (25-month follow-up after the combined lensectomy-trabeculotomy) with a controlled intraocular pressure under topical quadritherapy and a best corrected Snellen visual acuity of 0.08.
CONCLUSIONS
We report for the first time complete regression of a non-infiltrating ciliary body medulloepithelioma with seeding achieved with only a small number of intracameral and intravitreal melphalan injections. Concomitant secondary neovascular glaucoma and cataract needed appropriate management to allow long-term eye and vision preservation.
Topics: Antineoplastic Agents, Alkylating; Ciliary Body; Humans; Infant; Injections, Intraocular; Intraocular Pressure; Male; Melphalan; Microscopy, Acoustic; Neuroectodermal Tumors, Primitive; Retinal Neoplasms; Visual Acuity
PubMed: 32552699
DOI: 10.1186/s12886-020-01512-y -
Romanian Journal of Ophthalmology 2021Medulloepithelioma is a rare tumor of the eye, arising from the posterior segment. This embryonic tumor is mostly seen in children and is very rare in adult population....
Medulloepithelioma is a rare tumor of the eye, arising from the posterior segment. This embryonic tumor is mostly seen in children and is very rare in adult population. This case report presents the case of a 39-year-old Indian male, who had gradual vision loss over 4 years in his left eye with new onset of pain. He was referred to our center in view of secondary cataract and intraocular mass. Vision in right eye was 20/ 20 while left eye had no light perception at presentation. Ocular examination of the left eye revealed shallow anterior chamber, florid iris neovascularization, raised intraocular pressure and cataractous lens. B-scan ultrasonography showed a heterogenous mass filling the entire globe. MRI scan confirmed the finding, showing a mass hyper-intense to vitreous. No invasion of optic nerve or sclera was observed. Left eye enucleation with PMMA implant placement was performed and histopathology confirmed the diagnosis of benign teratoid medulloepithelioma. At the time of submission of this report, the patient was still under follow-up and had no detectable metastases at 15 months follow-up. This report highlights a very rare case of embryonic tumor in adult male, which could be managed successfully with a high index of suspicion and timely intervention.
Topics: Adult; Child; Ciliary Body; Eye Enucleation; Humans; Intraocular Pressure; Male; Neuroectodermal Tumors, Primitive; Uveal Neoplasms
PubMed: 35036657
DOI: 10.22336/rjo.2021.61 -
Medicine Jul 2022To investigate the characteristics and factors that impact the prognosis of Ewing sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) patients. We...
To investigate the characteristics and factors that impact the prognosis of Ewing sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) patients. We retrospectively analyzed ES/pPNET patients diagnosed at our hospital from January 2011 to December 2020. We used 1-way analysis of variance to investigate whether the age differences between different subgroups were statistically significant and used the Kaplan-Meier method and Cox regression model for the survival analysis. Of the 67 included patients, 13 had central nervous system PNET, and 54 had ES/pPNET. The median survival time of the 54 ES/pPNET patients was 18 months; the 1-year, 3-year and 5-year progression-free survival rates were 37.0% and 9.3% and 1.9%, respectively; and the 1-year, 3-year and 5-year overall survival (OS) rates were 66.7%, 27.8%, and 7.4%, respectively. The 1-way analysis of variance results showed no statistically significant age difference between the different subgroups (P = .127 between the central nervous system PNET and ES/pPNET groups, P = .764 between different subgroups within the ES/pPNET group). The univariate survival analysis showed that metastasis at diagnosis and the treatment method were independent factors affecting the OS rate of ES/pPNET patient (P = .003 and 0.000, respectively). The multivariate survival analysis also showed that the treatment method and metastasis at diagnosis were related factors affecting OS (P = .025 and 0.001, respectively). The prognosis of patients with primitive neuroectodermal tumors is poor. The treatment method and metastasis at the time of diagnosis influences ES/pPNET patient survival time, but there is no significant tumor site-dependent correlation with patient age or sex.
Topics: Humans; Neoplasms, Germ Cell and Embryonal; Neuroectodermal Tumors, Primitive; Neuroectodermal Tumors, Primitive, Peripheral; Prognosis; Retrospective Studies; Sarcoma, Ewing
PubMed: 35866758
DOI: 10.1097/MD.0000000000029564 -
Turkish Neurosurgery 2017Primitive neuroectodermal tumors (PNETs) are easily detected, and the diagnosis made by neuroradiologic imaging. Leptomeningeal seeding is a common complication and... (Review)
Review
Primitive neuroectodermal tumors (PNETs) are easily detected, and the diagnosis made by neuroradiologic imaging. Leptomeningeal seeding is a common complication and carries a poor prognosis. Primary leptomeningeal PNETs are rarer and difficult to diagnose on magnetic resonance imaging (MRI) or cerebrospinal fluid (CSF) studies. We encountered a rare case of primary leptomeningeal primitive neuroectodermal tumor without intracranial mass lesion which was diagnosed by spinal lesion biopsy. This 25-year-old woman presented with worsening headaches and progressive visual impairment.The initial diagnosis was tubercle bacillus (TB) meningitis, and the final diagnosis of primary leptomeningeal PNET was made by spinal biopsy. We present this illustrative case, review previous cases in the literature, and suggest that diagnosis is considered in mildly affected patients with similar symptoms.
Topics: Adult; Biopsy; Diagnosis, Differential; Female; Humans; Meningeal Neoplasms; Neuroectodermal Tumors, Primitive; Tuberculosis, Meningeal
PubMed: 27349395
DOI: 10.5137/1019-5149.JTN.12123-14.2 -
Journal of the Egyptian National Cancer... Jun 2017Was to evaluate the outcome of multimodality treatment in resectable primary Ewing sarcoma/primitive neuroectodermal tumor ES/PNET of the ribs and role of thoracoscopy...
PURPOSE
Was to evaluate the outcome of multimodality treatment in resectable primary Ewing sarcoma/primitive neuroectodermal tumor ES/PNET of the ribs and role of thoracoscopy in facilitating resection of these tumors.
PATIENTS AND METHODS
This was a retrospective study including 22 patients with primary ES/PNET of the ribs surgically treated at Children's Cancer Hospital Egypt (CCHE) between January 2008 until the end of December 2014.
RESULTS
Median age was 8.5years (range 5months to 16years.). All patients received neoadjuvant chemotherapy. Thoracoscopic exploration was performed in 15 (68%) patients. Resection included 1,2,3 and 4 ribs in (7,4,8 and 3 patients) respectively, parts of the diaphragm (3 patients), wedge resection of the lung (10 patients) and pleural nodules (2 patients). Primary closure was feasible in 11 patients and rib transposition was done in one patient. Reconstruction by proline mesh covered by muscle flap was done in 10 patients. Margins were microscopically positive in 3 patients and close in 2 patients. Postoperative radiotherapy was given in 8 patients. With a median follow-up of 38.5months, the 3-year event -free survival (EFS) and overall survival(OS) rates were 31.6% and 55.6%, respectively.
CONCLUSION
Multimodality treatment is essential in the management of ES-PNET of the ribs. Neoadjuvant chemotherapy facilitates adequate resection. The role of thoracoscopy and the indications of postoperative radiotherapy need further evaluation.
Topics: Adolescent; Child; Child, Preschool; Combined Modality Therapy; Disease-Free Survival; Female; Humans; Infant; Male; Neoadjuvant Therapy; Neuroectodermal Tumors, Primitive; Ribs; Sarcoma, Ewing; Thoracoscopy
PubMed: 28462848
DOI: 10.1016/j.jnci.2017.03.002 -
Ophthalmology Feb 2019To characterize the ocular phenotype of DICER1 syndrome.
PURPOSE
To characterize the ocular phenotype of DICER1 syndrome.
DESIGN
Prospective, single-center, case-control study.
PARTICIPANTS
One hundred three patients with an identified germline pathogenic DICER1 variant (DICER1 carriers) and 69 family control participants underwent clinical and ophthalmic examination at the National Institutes of Health between 2011 and 2016.
METHODS
All participants were evaluated with a comprehensive ophthalmic examination, including best-corrected visual acuity, slit-lamp biomicroscopy, and a dilated fundus examination. A subset of patients returned for a more detailed evaluation including spectral-domain OCT, color fundus photography, fundus autofluorescence imaging, visual field testing, full-field electroretinography, and genetic testing for inherited retinal degenerative diseases.
MAIN OUTCOME MEASURES
Visual acuity and examination findings.
RESULTS
Most DICER1 carriers (97%) maintained a visual acuity of 20/40 or better in both eyes. Twenty-three DICER1 carriers (22%) showed ocular abnormalities compared with 4 family controls (6%; P = 0.005). These abnormalities included retinal pigment abnormalities (n = 6 [5.8%]), increased cup-to-disc ratio (n = 5 [4.9%]), optic nerve abnormalities (n = 2 [1.9%]), epiretinal membrane (n = 2 [1.9%]), and drusen (n = 2 [1.9%]). Overall, we observed a significant difference (P = 0.03) in the rate of retinal abnormalities in DICER1 carriers (n = 11 [11%]) versus controls (n = 1 [1.5%]). One patient demonstrated an unexpected diagnosis of retinitis pigmentosa with a novel variant of unknown significance in PRPF31, and 1 showed optic nerve elevation in the setting of increased intracranial pressure (ICP) of unclear cause. Three patients (3%) demonstrated DICER1-related ciliary body medulloepithelioma (CBME), 2 of which were identified during routine examination, a higher rate than that reported previously.
CONCLUSIONS
Ophthalmologists should be aware of the ophthalmic manifestations of DICER1 syndrome, and individuals and families should be counseled on the potential signs and symptoms. We recommend that children with a germline pathogenic variant in DICER1, especially those younger than 10 years, undergo annual dilated ophthalmic examination, looking for evidence of CBME, signs of increased ICP, and perhaps changes in the retinal pigment epithelium.
Topics: Adolescent; Adult; Aged; Case-Control Studies; Child; Child, Preschool; Ciliary Body; DEAD-box RNA Helicases; DNA, Neoplasm; Electroretinography; Female; Gene Expression Regulation, Neoplastic; Genetic Predisposition to Disease; Humans; Infant; Male; Middle Aged; Neuroectodermal Tumors, Primitive; Phenotype; Prospective Studies; Retinal Pigment Epithelium; Ribonuclease III; Slit Lamp Microscopy; Syndrome; Tomography, Optical Coherence; Uveal Neoplasms; Visual Acuity; Young Adult
PubMed: 30339877
DOI: 10.1016/j.ophtha.2018.09.038