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November 8, 2022Genes Chromosomes and CancerOpen Access

MAML2 gene rearrangements were identified in seven cases of malignant undifferentiated epithelioid neoplasms, with 3 of 4 followed patients developing distant metastasis.

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Why the study?

MAML2-related fusions were recently encountered in undifferentiated malignant epithelioid neoplasms that do not fit established pathologic entities.

Design

Clinicopathologic case series

Follow-up

Median 8 months in 4 cases with detailed clinical history

Key result

MAML2 gene rearrangements were identified in seven cases of malignant undifferentiated epithelioid neoplasms, with 3 of 4 followed patients developing distant metastasis.

Authors

JDJosephine K. DermawanSDSara DiNapoliPSPurvil Sukhadia

Discussion

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Member takes

Overview

MAML2 fusions mark a novel subset of undifferentiated epithelioid sarcomas; leaves open classification and targeted therapy implications.

Study Design

Type

Case Report (n=7)

Structured PICO

P
Population
7 patients (median age 65 years, 2 females) with malignant undifferentiated epithelioid neoplasms harboring MAML2 rearrangements, followed for a median of 8 months.

Describes a heterogeneous series of MAML2-rearranged undifferentiated malignant epithelioid neoplasms, expanding the clinicopathologic spectrum of mesenchymal neoplasms with recurrent MAML2 gene rearrangements.

Cite This Study

Dermawan et al. (2022) conducted a case report in Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements (n=7). MAML2 gene rearrangements was evaluated. MAML2 gene rearrangements were identified in seven cases of malignant undifferentiated epithelioid neoplasms, with 3 of 4 followed patients developing distant metastasis.

synapsesocial.com/papers/6a9fa899216b4ce72bba47f7https://doi.org/10.1002/gcc.23102
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Also Consider

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  1. 1<scp>NR1D1</scp>::<scp>MAML1</scp> epithelioid and spindle cell sarcoma mimicking pseudomyogenic hemangioendothelioma in core biopsy: A case report and review of the literature2023 · 9 citations
  2. 2Novel MAML2 Fusions in Human Malignancy2025
  3. 3<i>YAP1::KMT2A</i>‐Rearranged Sarcoma: Report of a New Case With Unusual Morphology and Immunohistochemical Features2025
  4. 4ALK-rearranged Mesenchymal Neoplasms With Prominent Foamy/Pseudolipogenic Cell Morphology2024 · 10 citations
  5. 5<i>ALK</i>-rearranged mesenchymal neoplasms: a clinicopathological and molecular study of eight additional cases of an emerging group of tyrosine kinase fusion mesenchymal tumours2024 · 5 citations