Medulloblastoma with myogenic and/or melanotic differentiation does not align immunohistochemically with the genetically defined molecular subgroups

Gupta, Kirti; Jogunoori, Swathi; Satapathy, Amit Kumar; Salunke, Pravin; Kumar, Narendra; Radotra, Bishan Dass; Vasishta, Rakesh Kumar

doi:10.1016/j.humpath.2018.01.014

Cited by 6 publications

(9 citation statements)

References 19 publications

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“…[4][5][6] Little is known about the molecular classification of these rare medulloblastoma variants and only a few reports have elaborated on their molecular subtyping. [6][7][8] The largest extant series of medullomyoblastomas by Gupta et al concluded that these tumors are not easily classified by the genetic subtypes of medulloblastoma, at least using immunostain surrogates of molecular characteristics. Molecular tests to establish whether these tumors belonged to group 3 or group 4 were apparently not done, and one can infer that these tumors were likely not SHH-activated or Wnt-activated.…”

Section: Discussionmentioning

confidence: 99%

“…Molecular tests to establish whether these tumors belonged to group 3 or group 4 were apparently not done, and one can infer that these tumors were likely not SHH-activated or Wnt-activated. 8 The largest series on cytological features of medulloblatoma is a series of 43 cases by Takei et al 9 There is sparse literature available on the prognosis of this rare tumor, although some case reports state a worse prognosis. 10,11 However, the prognosis is thought to be depend mainly on the histological type and the molecular subtype.…”

Section: Discussionmentioning

confidence: 99%

“…Rarely, tumors can have both myogenic and with melanotic differentiation, as evidenced by a few case reports in literature 4‐6 . Little is known about the molecular classification of these rare medulloblastoma variants and only a few reports have elaborated on their molecular subtyping 6‐8 . The largest extant series of medullomyoblastomas by Gupta et al concluded that these tumors are not easily classified by the genetic subtypes of medulloblastoma, at least using immunostain surrogates of molecular characteristics.…”

Section: Discussionmentioning

confidence: 99%

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Squash cytology of a case of medulloblastoma with myogenic differentiation

Bhattacharya

Bansal

et al. 2020

Diagnostic Cytopathology

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Medulloblastoma with myogenic differentiation is not a distinct entity but a pattern of differentiation seen in <1% of medulloblastomas. Although squash cytology of medulloblastoma is well described, there are no reports available describing squash cytomorphology of this unusual variant of medulloblastoma. Intraoperative squash smears on a 2-year-old girl with a midline posterior fossa space occupying lesion revealed features of an embryonal tumor composed of small, round, and blue cells. In addition, it had several large, round, eosinophilic rhabomyoblasts, and a few strap cells scattered among the sea of small blue cells. Subsequent histology showed features of a medulloblastoma, classic type with myogenic differentiation. Molecular subtyping, based on immunohistochemistry alone, was in keeping with a non-Wnt/ non-SHH activated type. Here we describe the squash cytomorphological details of a case of medulloblastoma with myogenic differentiation, along with its cytological differentials.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Squash cytology of a case of medulloblastoma with myogenic differentiation

Bhattacharya

Bansal

et al. 2020

Diagnostic Cytopathology

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“…These 164 cases corresponded to 157 patients with 7 recurrent tumors. Among 190 cases, 12 cases of MB with myogenic differentiation and one case of MB with both myogenic and melanotic differentiation were excluded 15 . Twenty-one cases had insufficient material or unavailable records; hence had to be excluded.…”

Section: Methodsmentioning

confidence: 99%

Immunohistochemical Surrogates for Molecular Stratification in Medulloblastoma

Chinnam¹,

Saraswati²,

Jogunoori³

et al. 2023

Applied Immunohistochemistry &Amp; Molecular Morphology

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Background: The WHO classification of central nervous system neoplasms (2016) recognized 4 histologic variants and genetically defined molecular subgroups within medulloblastoma (MB). Further, in the 2021 classification, new subtypes have been provisionally added within the existing subgroups reflecting the biological diversity. YAP1, GAB1, and β-catenin were conventionally accepted as surrogate markers to identify these genetic subgroups. Objectives: We aimed to stratify MB into molecular subgroups using 3 immunohistochemical markers. TP53 mutation was also assessed in Wingless (WNT), and Sonic Hedgehog (SHH) subgroups. Demographic profiles, imaging details, and survival outcomes were compared within these molecular subgroups. Patients and methods: Our cohort included 164 MB cases diagnosed over the last 10 years. The histologic variants were identified on histology, and tumors were molecularly stratified using YAP1, GAB1, and β-catenin. Further, TP53 mutation was assessed using immunohistochemical in WNT and SHH subgroups. The clinical details and survival outcomes were retrieved from the records, and the mentioned correlates were evaluated statistically. Results: The age ranged from 1 to 52 years with M:F ratio of 2:1. Group 3/group 4 constituted the majority (48.4%), followed by SHH (45.9%) and WNT subgroups (5.7%). Desmoplastic/nodular and MB with extensive nodularity had the best survival, whereas large cell/anaplastic had the worst. The follow-up period ranged from 1 to 129 months. The best outcome was observed for the WNT subgroup, followed by the SHH subgroup; group 3/group 4 had the worst. Among the SHH subgroup, TP53 mutant tumors had a significantly poorer outcome compared with SHH-TP53 wildtype. Conclusions: Molecular stratification significantly contributes to prognostication, and a panel of 3 antibodies is helpful in stratifying MB into its subgroups in centers where access to advanced molecular testing is limited. Our study reinforces the efficacy of incorporating this cost-effective, minimal panel into routine practice for stratification. Further, we propose a 3-risk stratification grouping, incorporating morphology and molecular markers.

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“…Third, rhabodomyoblasts, melanocytes, and muscle cells are all inherently positive for YAP1. Therefore, an indeterminant subtype (YAP1 positive, negative for GAB1, and cytoplasmic beta‐catenin) often is observed in the presence of divergent myogenic or melanotic differentiation (29) (Figure 2).…”

Section: Methods Of Molecular Classificationmentioning

confidence: 99%

Pathology, diagnostics, and classification of medulloblastoma

Orr

2020

Brain Pathology

100

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Medulloblastoma (MB) is the most common CNS embryonal tumor. While the overall cure rate is around 70%, patients with high-risk disease continue to have poor outcome and experience long-term morbidity. MB is among the tumors for which diagnosis, risk stratification, and clinical management has shown the most rapid advancement. These advances are largely due to technological improvements in diagnosis and risk stratification which now integrate histomorphologic classification and molecular classification. MB stands as a prototype for other solid tumors in how to effectively integrate morphology and genomic data to stratify clinicopathologic risk and aid design of innovative clinical trials for precision medicine. This review explores the current diagnostic and classification of MB in modern neuropathology laboratories.

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Medulloblastoma with myogenic and/or melanotic differentiation does not align immunohistochemically with the genetically defined molecular subgroups

Cited by 6 publications

References 19 publications

Squash cytology of a case of medulloblastoma with myogenic differentiation

Squash cytology of a case of medulloblastoma with myogenic differentiation

Immunohistochemical Surrogates for Molecular Stratification in Medulloblastoma

Pathology, diagnostics, and classification of medulloblastoma

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