Zhu-Tokita-Takenouchi-Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial ...dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies. In this study, we describe the first Colombian patient with ZTT harboring a novel mutation that has not been previously reported and review the clinical and molecular features of previously reported patients in the literature.
The fifth edition of the World Health Organization (WHO) classification of central nervous system (CNS) tumors introduced the new tumor type CNS tumor with BCOR internal tandem duplication (ITD), ...characterized by a distinct DNA methylation profile and peculiar histopathological features, including a circumscribed growth pattern, ependymoma-like perivascular pseudorosettes, microcystic pattern, absent or focal GFAP immunostaining, OLIG2 positivity, and BCOR immunoreactivity. We describe a rare case of a CNS tumor in a 45-year-old man with histopathological and immunohistochemical features overlapping the CNS tumor with BCOR internal tandem duplication (ITD) but lacking BCOR immunostaining and BCOR ITD. Instead, the tumor showed CREBBP::BCORL1 fusion and pathogenic mutations in BCOR and CREBBP, along with a DNA methylation profile matching the "CNS tumor with EP300:BCOR(L1) fusion" methylation class. Two CNS tumors with fusions between CREBBP, or its paralog EP300, and BCORL1, and approximately twenty CNS tumors with CREBBP/EP300::BCOR fusions have been reported to date. They exhibited similar ependymoma-like features or a microcystic pattern, along with focal or absent GFAP immunostaining, and shared the same DNA methylation profile. Given their morphological and epigenetic similarities, circumscribed CNS tumors with EP300/CREBBP::BCOR(L1) fusions and CNS tumors with BCOR ITD may represent variants of the same tumor type. The ependymoma-like aspect coupled with the lack of diffuse GFAP immunostaining and the presence of OLIG2 positivity are useful clues for recognizing these tumors in histopathological practice. The diagnosis should be confirmed after testing for BCOR(L1) gene fusions and BCOR ITD.
Astroblastoma is a rare glial neoplasia of the central nervous system. It is histologically defined by the presence of neoplastic cells with non‐ or slightly tapering processes arranged around blood ...vessels (astroblastic rosettes) and conventionally subdivided into well‐differentiated and anaplastic. It commonly affects children and young adults, although cases and due to its superficial location in the brain cortex, it can mimic an extra‐axial mass on magnetic resonance imagining. Herein, we describe a unique case of pure extra‐axial anaplastic astroblastoma in an elderly woman. Awareness that astroblastoma may be also extra‐axial and affect older subjects, may be helpful for its identification and differential diagnosis toward more common entities at this site and age of onset, and for appropriate therapeutic management as well.
Foramen magnum meningioma poses a challenge for neurosurgeons. Prognosis has generally improved with diagnostic and surgical advances over the past two decades; however, it may ultimately depend more ...on the surgeon's ability to tailor the approach and interpret intraoperative risks in single cases. The series comprised 64 patients operated on for ventral and ventrolateral foramen magnum meningioma. All patients underwent preoperative magnetic resonance imaging and received surgery via the dorsolateral route, rendering the series homogeneous in neuroradiological workup and surgical treatment. Particular to this series was that the majority of patients were of advanced age (
n
= 29; age, >65 years), had serious functional impairment (
n
= 30, Karnofski score <70), and large tumors (mean diameter, 3.5 cm). Total tumor removal was achieved in 52 (81 %) patients; operative mortality was nil. Early outcome varied depending on difficulties encountered at surgery (cranial nerve position and type of involvement in particular) and type of preoperative dysfunction. Long-tract signs and cerebellar deficits improved in 74 and 77 % of cases, respectively, but only 27 % of cranial nerve deficits did so. Surgical complications most often involved the cranial nerves: cranial nerve impairment, especially of the 9th through the 12th cranial nerves, due to stretching or encasement was noted in 44 cases. At final outcome assessment, two thirds of the cranial nerve deficits cleared, and all but two patients returned to a normal productive life. One patient was reoperated on during the follow-up period. Foramen magnum meningiomas behave like clival or spinal tumors depending on their prevalent extension. A dorsolateral approach tailored to tumor position and extension and meticulous surgical technique allow for definitive control of surgical complications. Scrupulous postoperative care may prevent dysphagia, a major persistent complication of surgery. Long-term observation of indolent tumor behavior at follow-up suggests that incomplete resection may be a viable surgical treatment option.
The Fully Endoscopic Acoustic Neuroma Surgery Marchioni, Daniele; Carner, Marco; Rubini, Alessia ...
Otolaryngologic clinics of North America,
10/2016, Volume:
49, Issue:
5
Journal Article
Peer reviewed
Surgical approaches to vestibular schwannomas (VS) are widely known and extensively recorded. For the first time, an exclusive endoscopic approach to the internal acoustic canal (IAC) was described ...and used to safely remove a cochlear schwannoma involving IAC in March 2012. The aim of this article was to summarize indications and technique to treat intracanalicular VS by transcanal/transpromontorial endoscopic approach. Because management of intracanalicular VSs is complex and strongly debated, this kind of therapeutic option in the appropriate and selected cases could modify classic concepts of the management of this pathology.
16p11.2 Microdeletion: first report in Argentina Tardivo, Agostina; Masotto, Bárbara; Espeche, Lucía ...
Archivos argentinos de pediatría,
2017-Dec-01, 20171201, Volume:
115, Issue:
6
Journal Article
Peer reviewed
Open access
The 16p11.2 recurrent microdeletion phenotype is characterized by developmental delay, intellectual disability, and/or autism spectrum disorder. This microdeletion is associated with variable ...clinical outcome, the phenotypical spectrum ranges from intellectual disability and/or multiple congenital anomalies, autism, learning and speech problems, to a normal Microdeleción 16p11.2: primeros casos reportados en Argentina 16p11.2 Microdeletion: first report in Argentina phenotype. Genomic testing that determines copy number of sequences, such as chromosomal microarray, is used to identify this microdeletion. However, the prediction of the individual phenotype of a patient based only on the location of such deletion remains a challenge, regarding the existence of many genomic variants that might hinder the interpretation of possible functional effects between most of the contributing genes to that region. We describe the clinical findings in two subjects with heterozygous microdeletions at 16p11.2, highlighting the phenotypic and behavioural findings that conditioned the diagnostic strategy. We also discuss the implications of diagnosis, in practical counselling situations.
According to the fifth edition of the World Health Organization (WHO) classification of tumors of the central nervous system (CNS), diffuse midline glioma H3 K27-altered is a grade 4 infiltrative ...glioma that arises from midline anatomical structures and is characterized by the loss of H3 K27me3 and co-occurring H3 K27M mutation or EZHIP overexpression. However, the H3 K27M mutation has also been observed in circumscribed gliomas and glioneuronal tumors arising in midline anatomical structures, which may result in diagnostic pitfalls.Rosette-forming glioneuronal tumor (RGNT) is a CNS WHO grade 1 neoplasm that histologically features neurocytic and glial components and originates in midline anatomical structures.This study aimed to assess whether RGNTs, similar to other midline tumors, may exhibit immunohistochemical loss of H3 K27me3 and harbor the H3 K27M mutation.All seven analyzed RGNTs displayed immunohistochemical loss of H3 K27me3 in all tumor cells or H3 K27me3 mosaic immunostaining. In one case, H3 K27me3 loss was associated with the H3 K27M mutation, whereas the other six cases did not exhibit any H3 mutations or EZHIP overexpression. During a follow-up period of 23 months, the H3 K27M-mutant case remained unchanged in size despite partial resection, indicating that the H3 mutation may not confer higher biological aggressiveness to RGNT.The immunohistochemical loss of H3 K27me3 co-occurring with the H3 K27M mutation may result in the potential misdiagnosis of RGNT, especially in cases of small biopsy specimens consisting of only the glial component.
Electrical stimulation of the inferior colliculus in the midbrain can provide a safe and efficacious alternative to auditory brainstem implants (ABIs).
Patients with neurofibromatosis type 2 (NF2) ...receive limited speech recognition with ABIs. Some ABI patients without NF2 can achieve excellent speech understanding, suggesting that the limited NF2 performance is due to brainstem damage from the tumor and its removal.
An array of electrodes (Med-El ABI) was placed on the dorsal surface of the inferior colliculus in the midbrain of a human volunteer as an auditory prosthesis via an infratentorial supracerebellar median surgical approach. Electrophysiological responses, psychophysical responses, and speech recognition were measured.
Electrical stimulation produced auditory sensations on all 12 electrodes with no nonauditory sensations. Auditory threshold levels indicated the stability of the electrode array over time. Electrophysiological measures showed activation in the contralateral auditory cortex but none in ipsilateral cortex. All electrodes demonstrated a full range of loudness sensation and electrode-specific pitch sensations. Speech recognition was significant, but limited in the first month after surgery.
This approach may provide advantages for patients with brainstem damage.
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with ...341 cases enrolled in the CSS/BAF-related disorders registry by 2021. Pathogenic variants of ARID1A account for 7–8% of cases with CSS phenotype. Malignancy has been previously reported in six individuals with CSS associated with BAF mutations. Two of these malignancies including one acute lymphoid leukemia and one hepatoblastoma were reported in ARID1A-associated CSS (ARID1A-CSS). Alterations in ARID1A are among the most common molecular aberrations in human cancer. Somatic deletion of 1p and specifically of 1p36.11 containing ARID1A is frequently seen in hepatoblastoma and has been associated with high-risk features. Here we report a child with CSS Phenotype and a novel de novo variant of ARID1A with hepatoblastoma. Because hepatoblastoma has an incidence of 1 per million children, the presence of hepatoblastoma in 2 of 30 known cases of ARID1A-CSS is significant. ARID1A-CSS should be included among the cancer predisposition syndromes associated with an increased risk of hepatoblastoma and tumour surveillance considered for these patients. The role of ARID1A in the pathogenesis and outcome of hepatoblastoma deserves further investigation.
Objectives/Hypothesis
The aim of this study was to describe and evaluate the feasibility of an expanded transcanal transpromontorial approach, developed from the exclusive endoscopic transcanal ...transpromontorial approach.
Study Design
Retrospective case series.
Methods
Retrospective chart review of 10 patients operated by an expanded transcanal transpromontorial approach in two tertiary referral centers (University Hospital of Modena, Italy and University Hospital of Verona, Italy). Data from charts and video documentation were collected and analyzed.
Results
Between April 2015 and January 2016, 10 patients underwent an expanded transcanal transpromontorial approach for vestibular schwannoma Koos stage I or II and were enrolled in the study. The size of the tumors ranged from 7 to 19 mm in maximum diameter. A gross total resection was achieved in all cases. One subject experienced postoperative cerebrospinal fluid otorhinorrhea and three subjects experienced temporary postoperative facial weakness, all of which completely resolved. The mean follow‐up was 5 months.
Conclusions
The expanded transcanal transpromontorial approach allowed bimanual dissection using a microscopic technique for the treatment of pathologies of the internal auditory canal and cerebellopontine angle. This novel approach resulted in minimal morbidity and comparable facial nerve preservation rates to the traditional approaches to the internal auditory canal. The expanded transpromontorial approach to the internal auditory canal holds promise for addressing pathology in this region of the temporal bone from the external auditory canal.
Level of Evidence
4. Laryngoscope, 127:2608–2614, 2017
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