Primary Pulmonary Round Cell Sarcomas: Multiple Potential Pitfalls for the Pathologist

Richards, Ryland; Jour, George; Tafe, Laura J.; Pinto, André; Brčić, Iva; Linos, Konstantinos; Kerr, Darcy A.

doi:10.1177/10668969221091586

Cited by 4 publications

(2 citation statements)

References 34 publications

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“…Although the lung is one of the most common metastatic organs for STS, primary lung USRCS is extremely uncommon. For extraosseous primary tumors, the proportion of primary lung USRCS is unclear and only limited cases reported (8,9). For this rare occurrence of USRCS, the relationship between gene phenotype, pathological phenotype and clinical phenotype, and whether both the pathological characteristics of sarcoma and lung cancer should be taken into consideration when making treatment decision, all deserves further exploring.…”

Section: Introductionmentioning

confidence: 99%

Locally advanced undifferentiated small round cell sarcoma of the lung with novel SDCCAG8-AKT3 fusion and type II tumor immunity in the microenvironment: a rare case report

Hua¹,

Qin²,

Pu³

et al. 2022

Transl Lung Cancer Res

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Background: Despite significant recent advances in characterizing the molecular pathogenesis of undifferentiated small round cell sarcoma (USRCS), rare cases without reported gene alterations remain unclassified. To date, the efficacy and prognostic biomarker of immunotherapy in the treatment of unresectable USRCS has not been demonstrated, especially when these cases occurring in uncommon thoracic visceral organs with a novel gene fusion.Case Description: We report a case of locally advanced and unresectable USRCS of the lung (cT4N1M0) with SDCCAG8-AKT3 fusion identified by RNA-based next-generation sequencing (NGS). He initially admitted to our hospital chiefly complained of cough and dyspnea without any intervention. Imaging examinations, positron emission tomography/computed tomography (PET/CT), tumor biopsy, and a series of molecular tests based on tumor specimens were conducted for diagnosis. The molecular tests supplied more information delineating the case's molecular characteristics including PMS2 mutation, CD274 amplification, high tumor mutational burden (TMB-H), and high microsatellite instability (MSI-H).Multiple immunofluorescence (mIF) staining further revealed a specific immune-microenvironment phenotype with a 100% programmed death ligand 1 (PD-L1) expression and type II tumor immunity in the microenvironment (type II TIME) of this case. This 31-year-old non-smoking male received vincristine sulfate, dactinomycin, and cyclophosphamide (VAC) regimen chemotherapy combined with pembrolizumab and sequential radiotherapy. He had maintained a partial response (PR) according to response evaluation criteria in solid tumors (RECIST) 1.1 and a good quality of life for almost 14 months except for mild loss of appetite and hair loss after chemotherapy to the latest follow-up date.Conclusions: Our study showed a rare case of lung USRCS harboring a novel SDCCAG8-AKT3 fusion.And we indicated that a comprehensive treatment including the combination of systemic VAC chemotherapy and anti-programmed cell death protein 1 (PD-1) immunotherapy, and sequential radiotherapy could be considered for similar cases, prophylactic managements of chemotherapy-related myelosuppression and urotoxicity should be administrated along with chemotherapy as well. Tumor immune microenvironment analysis and gene sequencing are recommended to obtain more prognostic biomarkers in addition to routine pathologic examinations in diagnosis and treatment of USRCS.

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Section: Introductionmentioning

confidence: 99%

Locally advanced undifferentiated small round cell sarcoma of the lung with novel SDCCAG8-AKT3 fusion and type II tumor immunity in the microenvironment: a rare case report

Hua¹,

Qin²,

Pu³

et al. 2022

Transl Lung Cancer Res

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“…6,7 It is very rare for DSRCT to originate outside the abdominal/pelvic cavity in a woman older than 30 years as in our case. Considering that DSRCT can occur in many other locations including the chest, [8][9][10][11][12] although rarely, in addition to abdominopelvic cavity, caution is warranted in interpreting FDG-avid intrathoracic lesions as DSRCT should be included among differential diagnoses.…”

mentioning

confidence: 99%

Metastatic Pulmonary Desmoplastic Small Round Cell Tumor on FDG PET/CT

Hou¹,

Dai²,

Tian³

2023

Clin Nucl Med

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A 33-year-old woman presents with cough and hemoptysis for 1 month. Chest CT showed a soft tissue mass in the left upper lobe of the lung. FDG PET/CT showed multiple foci of intense activity not only in the lung but also in the lymph nodes and the bones, which was diagnosed as lung malignancy with metastases. Histopathology revealed desmoplastic small round cell tumor. Our case indicated that, although the incidence is low, desmoplastic small round cell tumor should be considered among differential diagnoses of lung malignancies.

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SetQuence & SetOmic: Deep set transformers for whole genome and exome tumour analysis

Jurenaite,

León-Periñán,

Donath

et al. 2024

BioSystems

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Primary Pulmonary Round Cell Sarcomas: Multiple Potential Pitfalls for the Pathologist

Cited by 4 publications

References 34 publications

Locally advanced undifferentiated small round cell sarcoma of the lung with novel SDCCAG8-AKT3 fusion and type II tumor immunity in the microenvironment: a rare case report

Locally advanced undifferentiated small round cell sarcoma of the lung with novel SDCCAG8-AKT3 fusion and type II tumor immunity in the microenvironment: a rare case report

Metastatic Pulmonary Desmoplastic Small Round Cell Tumor on FDG PET/CT

SetQuence & SetOmic: Deep set transformers for whole genome and exome tumour analysis

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