Definition/General

Introduction:
-Gastric leiomyoma is a benign smooth muscle tumor arising from the gastric wall
-It is much less common than GIST in the stomach
-Represents less than 5% of gastric mesenchymal tumors
-True leiomyomas must be distinguished from leiomyomatous GIST variants.
Origin:
-Arises from smooth muscle cells of the gastric wall
-Most commonly from the muscularis propria layer
-Can also originate from muscularis mucosae
-May arise from vascular smooth muscle (vascular leiomyoma variant)
-Benign proliferation of smooth muscle without malignant potential.
Classification:
-Classified as conventional leiomyoma (most common)
-Vascular leiomyoma (angiomyoma)
-Epithelioid leiomyoma (rare variant)
-Symplastic leiomyoma with degenerative atypia
-Distinguished from leiomyosarcoma by lack of significant mitotic activity.
Epidemiology:
-Peak incidence in 4th-6th decades
-Female predominance (2:1 ratio)
-Rare in children and adolescents
-Higher frequency in patients with uterine leiomyomas
-Sporadic occurrence in most cases.

Clinical Features

Presentation:
-Asymptomatic in small tumors (<2 cm)
-Dyspepsia and epigastric discomfort (40-50%)
-Early satiety and bloating (30-40%)
-Gastrointestinal bleeding (20-30%)
-Palpable mass in large tumors
-Obstruction symptoms rare.
Symptoms:
-Upper GI bleeding from mucosal ulceration
-Iron deficiency anemia from chronic bleeding
-Postprandial pain and fullness
-Nausea and vomiting (20-30%)
-Weight loss uncommon unless large
-Acute bleeding may require emergency intervention.
Risk Factors:
-Female gender (estrogen influence)
-Reproductive age (hormonal factors)
-Concurrent uterine leiomyomas
-Genetic predisposition (rare familial cases)
-Estrogen replacement therapy
-Previous smooth muscle tumors.
Screening:
-No routine screening protocols
-Upper endoscopy for GI symptoms
-CT imaging for characterization
-MRI may help differentiate from GIST
-Endoscopic ultrasound for small submucosal lesions
-Biopsy for definitive diagnosis.

Master Leiomyoma Pathology with RxDx

Access 100+ pathology videos and expert guidance with the RxDx app

Gross Description

Appearance:
-Well-circumscribed nodular mass with smooth surface
-Gray-white cut surface with whorled pattern
-Firm consistency
-Encapsulated or pseudoencapsulated
-Intramural location most common.
Characteristics:
-Homogeneous cut surface with characteristic fascicular pattern
-Absence of necrosis in typical cases
-Calcification may be present in older lesions
-Cystic degeneration rare
-Hemorrhage uncommon unless ulcerated.
Size Location:
-Size typically 1-5 cm (larger than 10 cm rare)
-Antrum and body most common locations
-Intramural (60-70%), subserosal (20-30%), submucosal (10-20%)
-Pedunculated lesions may occur.
Multifocality:
-Usually solitary (>95% cases)
-Multiple leiomyomas rare but reported
-Associated with uterine leiomyomas in some women
-No metastatic potential
-Local recurrence extremely rare after complete excision.

Microscopic Description

Histological Features:
-Composed of interlacing fascicles of mature smooth muscle cells
-Spindle-shaped cells with eosinophilic cytoplasm
-Blunt-ended nuclei with smooth nuclear contours
-Minimal nuclear pleomorphism
-Low cellularity with abundant collagenous stroma.
Cellular Characteristics:
-Mature smooth muscle cells with elongated nuclei
-Abundant eosinophilic cytoplasm
-Cigar-shaped nuclei with smooth contours
-Uniform cellular morphology
-Absence of significant atypia
-Rare mitotic figures (<2/10 HPF).
Architectural Patterns:
-Interlacing fascicular pattern
-Whorled arrangement of smooth muscle bundles
-Rich collagenous stroma
-Prominent blood vessels throughout
-No infiltrative growth
-Well-demarcated borders.
Grading Criteria:
-Benign tumors by definition
-Mitotic count <2/10 HPF
-Absence of coagulative necrosis
-No significant nuclear atypia
-Well-demarcated margins
-Tumors with mitoses >5/10 HPF should be classified as leiomyosarcoma.

Immunohistochemistry

Positive Markers:
-Smooth muscle actin (100% positive)
-Desmin (95-100% positive)
-Caldesmon (90-95% positive)
-Muscle-specific actin (95-100%)
-Calponin (80-90% positive)
-Vimentin (positive).
Negative Markers:
-KIT (CD117) (negative)
-DOG-1 (negative)
-CD34 (negative)
-S-100 (negative)
-Cytokeratins (negative)
-Myogenin (negative).
Diagnostic Utility:
-Smooth muscle markers confirm diagnosis
-Desmin and SMA are most reliable
-KIT negativity distinguishes from GIST
-S-100 negativity excludes schwannoma
-Low Ki-67 (<5%) supports benign nature.
Molecular Subtypes:
-No established molecular subtypes
-Hormone receptor expression (estrogen, progesterone) may be present
-No specific genetic alterations
-Chromosomal aberrations rare
-Gene expression profile distinct from GIST.

Molecular/Genetic

Genetic Mutations:
-No consistent genetic alterations
-Chromosomal rearrangements uncommon
-TP53 mutations absent
-KIT/PDGFRA mutations absent (distinguish from GIST)
-Microsatellite stability
-Low mutational burden.
Molecular Markers:
-Low proliferation index (Ki-67 <5%)
-p53 overexpression absent
-MDM2 amplification absent
-Hormone receptor expression may be present
-VEGF expression variable
-Apoptosis markers low.
Prognostic Significance:
-Excellent prognosis with complete excision
-No malignant transformation potential
-Size >10 cm may indicate increased surveillance
-Mitotic activity >2/10 HPF warrants careful evaluation
-Recurrence extremely rare.
Therapeutic Targets:
-Surgical excision is curative
-Enucleation for small tumors
-Wedge resection for larger lesions
-No adjuvant therapy required
-Hormonal therapy not indicated
-Targeted therapy not applicable.

Differential Diagnosis

Similar Entities:
-Gastrointestinal stromal tumor (GIST)
-Leiomyosarcoma
-Schwannoma
-Inflammatory myofibroblastic tumor
-Solitary fibrous tumor
-Desmoid fibromatosis.
Distinguishing Features:
-Leiomyoma: Desmin positive, KIT negative
-Leiomyoma: Low mitotic count
-GIST: KIT and/or DOG-1 positive
-Leiomyosarcoma: High mitotic count >5/10 HPF
-Schwannoma: S-100 positive, desmin negative
-IMT: ALK positive in 50%.
Diagnostic Challenges:
-Distinguishing from leiomyomatous variant of GIST
-Separating from low-grade leiomyosarcoma
-Identifying degenerative atypia vs true malignancy
-Sampling adequacy for mitotic count assessment.
Rare Variants:
-Vascular leiomyoma (angiomyoma) with prominent vasculature
-Epithelioid leiomyoma with epithelioid morphology
-Symplastic leiomyoma with degenerative nuclear atypia
-Lipoleiomyoma with mature fat component.

Sample Pathology Report

Template Format

Sample Pathology Report

Complete Report: This is an example of how the final pathology report should be structured for this condition.

Specimen Information

[specimen type], measuring [size] cm in greatest dimension

Diagnosis

Leiomyoma

Size and Location

Size: [X] cm, Location: [intramural/submucosal/subserosal]

Histological Features

Mature smooth muscle cells in fascicular pattern, minimal atypia

Mitotic Count

Mitotic count: [X] mitoses per 10 high-power fields (consistent with benign tumor)

Immunohistochemistry

Desmin: positive, Smooth muscle actin: positive, KIT: negative

Margins

Surgical margins: [negative/positive], closest margin: [X] mm

Benign Features

Low mitotic count, no necrosis, minimal nuclear atypia, well-demarcated

Final Diagnosis

Gastric leiomyoma, [size] cm, margins [status]