Melanotic neuroectodermal tumor of infancy to the skull: case-based review

Ebel, Florian; Thieringer, Florian M.; Kunz, Christoph; Klein‐Franke, Andreas; Scheinemann, Katrin; Guzman, Raphael; Soleman, Jehuda

doi:10.1007/s00381-020-04509-6

Cited by 13 publications

(23 citation statements)

References 32 publications

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“…This study found a compelling relationship between MNTI, PAT, and MB G3 based on their overlapping methylation profiles. Our results are in line with a recent report by Ebel et al, who described a 4-month-old boy with an MNTI arising from the skull and clustering in the class family of MB G3 by methylation studies [13]. In our series, 5/7 MNTI clustered in the class family MB G3 with an optimal score (>0.9), supporting the findings reported by Ebel et al [13], as well as our index case (PAT, score 0.99).…”

Section: Discussionsupporting

confidence: 94%

“…However, this theory is debatable given the usual aggressive course of melanotic medulloblastomas in contrast to the generally benign behavior of MNTI [12]. Recently, Ebel et al reported a rapidly growing skull tumor in a male infant with a methylation profile of group 3 medulloblastoma despite showing conventional MNTI morphology, raising further questions regarding the underlying pathobiology of these neoplasms [13]. Intriguingly, we recently came across a PAT showing a similar methylation profile.…”

Section: Introductionmentioning

confidence: 81%

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Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling

Lopez‐Nunez

Alaggio

John

et al. 2021

Cancers

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MNTI is a rare tumor of indeterminate histogenesis and molecular signature. We performed methylation and copy number variation (CNV) profiles in patients with MNTI (n = 7) and PAT (n = 1) compared to the methylation brain tumor classifier v11b4 (BT-C) and the medulloblastoma (MB) classifier group 3/4 v1.0 (MB3/4-C). The patients’ mean age was 8 months (range: 4–48). The BT-C classified five MNTIs and one PAT (relapse) as class family MB-G3/G4, subclass group 3 (score: >0.9). The remaining two MNTIs and PAT (primary) were classified as class family plexus tumor, subclass pediatric (scores: >0.45). The MB3/4-C classified all MNTIs as high-risk MB-G3, Subtype II (score: >0.45). The primary PAT was classified as subtype III (score: 0.99) and its relapse as subtype II/III. MNTI and PAT clustered close to MB-G3. CNV analysis showed multiple rearrangements in one PAT and two MNTIs. The median follow-up was 54 months (four MNTIs in remission, one PAT died). In conclusion, we demonstrated that MNTI shares a homogenous methylation profile with MB-G3, and possibly with PAT. The role of a multipotent progenitor cell (i.e., early cranial neural crest cell) in their histogenesis and the influence of the anatomical site, tumor microenvironment, and other cytogenetic events in their divergent biologic behavior deserve further investigation.

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Section: Discussionsupporting

confidence: 94%

Section: Introductionmentioning

confidence: 81%

Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling

Lopez‐Nunez

Alaggio

John

et al. 2021

Cancers

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“…The workflow described in this study offers an accurate and straightforward method for performing anatomical reconstructions using PSIs [12,35]. The most striking advantages of this process are the reduction of operation time [18,36], the use of common materials widely available, and the possibility to reuse the silicon mold in case of a revision operation.…”

Section: Discussionmentioning

confidence: 99%

Accuracy Assessment of Molded, Patient-Specific Polymethylmethacrylate Craniofacial Implants Compared to Their 3D Printed Originals

Chamo

Msallem

Sharma

et al. 2020

JCM

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The use of patient-specific implants (PSIs) in craniofacial surgery is often limited due to a lack of expertise and/or production costs. Therefore, a simple and cost-efficient template-based fabrication workflow has been developed to overcome these disadvantages. The aim of this study is to assess the accuracy of PSIs made from their original templates. For a representative cranial defect (CRD) and a temporo-orbital defect (TOD), ten PSIs were made from polymethylmethacrylate (PMMA) using computer-aided design (CAD) and three-dimensional (3D) printing technology. These customized implants were measured and compared with their original 3D printed templates. The implants for the CRD revealed a root mean square (RMS) value ranging from 1.128 to 0.469 mm with a median RMS (Q1 to Q3) of 0.574 (0.528 to 0.701) mm. Those for the TOD revealed an RMS value ranging from 1.079 to 0.630 mm with a median RMS (Q1 to Q3) of 0.843 (0.635 to 0.943) mm. This study demonstrates that a highly precise duplication of PSIs can be achieved using this template-molding workflow. Thus, virtually planned implants can be accurately transferred into haptic PSIs. This workflow appears to offer a sophisticated solution for craniofacial reconstruction and continues to prove itself in daily clinical practice.

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“…Considering the rapid growth and that MNTI is easily misdiagnosed, this tumor deserves more attention. [ 7 ] The lesions are discernible radiographically and expand into the surrounding bone, and can even encircle and displace teeth. On magnetic resonance imaging, the soft tissue lesions, present as hypointense masses on T1 and T2-weighted images.…”

Section: Discussionmentioning

confidence: 99%

“…Although MNTI is typically a benign lesion that usually is derived from neural crest cells, it has a high risk of recurrence, and in approximately 6.5% of patients, peripheral lymph nodes are involved, or metastasis to distant organs occurs. [ 7 , 8 ]…”

Section: Introductionmentioning

confidence: 99%

Melanotic neuroectodermal tumor of infancy successfully treated with metformin

Tian²,

Wang³

et al. 2020

Medicine

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Rationale: Melanotic neuroectodermal tumor of infancy (MNTI) is a rare tumor originated from neural crest cells with the potential for recurrence and metastasis. The peak age for the disease is during the first year after birth. The current therapy is primarily surgery. The patient reported here is the first case of MNTI treated with metformin. Patient concerns: A case of a 4-month-old infant with a history of swelling in the mouth for 1 month. Diagnosis: The tumor was diagnosed using radiology, pathology, and immunohistochemistry, and it was performed with complete surgical resection. Unfortunately, the tumor recurred 3 months after surgery. Interventions: We prescribed metformin for the infant. Outcomes: Currently, after 9 months of treatment, the tumor is well controlled without apparent side effects. Lessons: The case presented suggested that metformin may be an underlying therapy for MNTI.

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Melanotic neuroectodermal tumor of infancy to the skull: case-based review

Cited by 13 publications

References 32 publications

Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling

Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling

Accuracy Assessment of Molded, Patient-Specific Polymethylmethacrylate Craniofacial Implants Compared to Their 3D Printed Originals

Melanotic neuroectodermal tumor of infancy successfully treated with metformin

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