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Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report
by
Luo, Shuai
, Wang, Jinjing
, Tian, Xiaoxue
, Xu, Ting
in
Abdominal cancer
/ Aged
/ Case Report
/ Case studies
/ Diagnosis
/ DNA Helicases - genetics
/ DNA Helicases - metabolism
/ Fatal Outcome
/ Gastrointestinal symptoms
/ Gene mutations
/ Genetic aspects
/ Health aspects
/ Humans
/ Intestine
/ Lung Neoplasms - genetics
/ Lung Neoplasms - metabolism
/ Lung Neoplasms - secondary
/ Male
/ Medicine
/ Medicine & Public Health
/ Mesentery
/ Mesentery - metabolism
/ Mesentery - pathology
/ Mesentery - surgery
/ Metastasis
/ Nuclear Proteins - genetics
/ Nuclear Proteins - metabolism
/ Peritoneal Diseases - genetics
/ Peritoneal Diseases - metabolism
/ Peritoneal Diseases - pathology
/ Peritoneal Diseases - surgery
/ Peritoneal Neoplasms - genetics
/ Peritoneal Neoplasms - metabolism
/ Peritoneal Neoplasms - pathology
/ Peritoneal Neoplasms - surgery
/ SMARCA4
/ SMARCA4-deficient undifferentiated tumors
/ Surgical Oncology
/ Tomography, X-Ray Computed
/ Transcription Factors - genetics
/ Transcription Factors - metabolism
2024
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Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report
by
Luo, Shuai
, Wang, Jinjing
, Tian, Xiaoxue
, Xu, Ting
in
Abdominal cancer
/ Aged
/ Case Report
/ Case studies
/ Diagnosis
/ DNA Helicases - genetics
/ DNA Helicases - metabolism
/ Fatal Outcome
/ Gastrointestinal symptoms
/ Gene mutations
/ Genetic aspects
/ Health aspects
/ Humans
/ Intestine
/ Lung Neoplasms - genetics
/ Lung Neoplasms - metabolism
/ Lung Neoplasms - secondary
/ Male
/ Medicine
/ Medicine & Public Health
/ Mesentery
/ Mesentery - metabolism
/ Mesentery - pathology
/ Mesentery - surgery
/ Metastasis
/ Nuclear Proteins - genetics
/ Nuclear Proteins - metabolism
/ Peritoneal Diseases - genetics
/ Peritoneal Diseases - metabolism
/ Peritoneal Diseases - pathology
/ Peritoneal Diseases - surgery
/ Peritoneal Neoplasms - genetics
/ Peritoneal Neoplasms - metabolism
/ Peritoneal Neoplasms - pathology
/ Peritoneal Neoplasms - surgery
/ SMARCA4
/ SMARCA4-deficient undifferentiated tumors
/ Surgical Oncology
/ Tomography, X-Ray Computed
/ Transcription Factors - genetics
/ Transcription Factors - metabolism
2024
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Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report
by
Luo, Shuai
, Wang, Jinjing
, Tian, Xiaoxue
, Xu, Ting
in
Abdominal cancer
/ Aged
/ Case Report
/ Case studies
/ Diagnosis
/ DNA Helicases - genetics
/ DNA Helicases - metabolism
/ Fatal Outcome
/ Gastrointestinal symptoms
/ Gene mutations
/ Genetic aspects
/ Health aspects
/ Humans
/ Intestine
/ Lung Neoplasms - genetics
/ Lung Neoplasms - metabolism
/ Lung Neoplasms - secondary
/ Male
/ Medicine
/ Medicine & Public Health
/ Mesentery
/ Mesentery - metabolism
/ Mesentery - pathology
/ Mesentery - surgery
/ Metastasis
/ Nuclear Proteins - genetics
/ Nuclear Proteins - metabolism
/ Peritoneal Diseases - genetics
/ Peritoneal Diseases - metabolism
/ Peritoneal Diseases - pathology
/ Peritoneal Diseases - surgery
/ Peritoneal Neoplasms - genetics
/ Peritoneal Neoplasms - metabolism
/ Peritoneal Neoplasms - pathology
/ Peritoneal Neoplasms - surgery
/ SMARCA4
/ SMARCA4-deficient undifferentiated tumors
/ Surgical Oncology
/ Tomography, X-Ray Computed
/ Transcription Factors - genetics
/ Transcription Factors - metabolism
2024
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Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report
Journal Article
Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report
2024
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Overview
Background
SMARCA4
-deficient undifferentiated tumor (
SMARCA4
-UT) is a rare and highly malignant primary tumor characterized by the loss of
SMARCA4
expression. Despite advancements in oncology, diagnosing and treating SMARCA4-UT remain significant clinical challenges.
Case demonstration
A 67-year-old male with a history of smoking presented to the hospital with complaints of abdominal distention and pain lasting for more than four days. Abdominal computed tomography (CT) revealed a high-density mass measuring approximately 41 × 37 mm in the right lower quadrant. Additionally, chest CT identified a high-density mass measuring 63 × 48 mm in the upper lobe of the right lung. The patient underwent partial small bowel resection, and postoperative pathological examination confirmed a diagnosis of
SMARCA4
-UT originating in the small mesentery. Unfortunately, the patient succumbed to respiratory failure 21 days after the diagnosis.
Conclusion
SMARCA4
-UT is an exceedingly rare and aggressive undifferentiated tumor. This case highlights a presentation of
SMARCA4
-UT with abdominal pain and distention as initial symptoms. Clinicians should consider
SMARCA4
-UT in middle-aged or elderly male patients with a history of smoking who present with large masses. Comprehensive chest imaging is essential to exclude the thoracic primary disease in such cases.
Publisher
BioMed Central,BioMed Central Ltd,BMC
Subject
/ Aged
/ Humans
/ Male
/ Medicine
/ Nuclear Proteins - metabolism
/ Peritoneal Diseases - genetics
/ Peritoneal Diseases - metabolism
/ Peritoneal Diseases - pathology
/ Peritoneal Diseases - surgery
/ Peritoneal Neoplasms - genetics
/ Peritoneal Neoplasms - metabolism
/ Peritoneal Neoplasms - pathology
/ Peritoneal Neoplasms - surgery
/ SMARCA4
/ SMARCA4-deficient undifferentiated tumors
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