IHC single marker with reporting Desmin

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Tumor marker staining.

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IHC Single Marker with Reporting Desmin - Comprehensive Medical Test Guide

1. Why is it done?
- Test Purpose: Desmin is an immunohistochemical marker used to identify and detect intermediate filament proteins expressed in muscle tissues (smooth muscle, skeletal muscle, and cardiac muscle cells). This test helps pathologists diagnose and classify various muscle-related pathologies and soft tissue tumors.
- Primary Indications: Diagnosis and differentiation of muscle-related tumors including rhabdomyosarcoma, leiomyosarcoma, and other soft tissue sarcomas; Identification of muscular origin in undifferentiated neoplasms; Assessment of myositis and muscle inflammatory conditions; Evaluation of muscle fiber pathology in biopsy specimens
- Clinical Circumstances: When tissue biopsy reveals suspected muscle tumors or sarcomas; During tumor staging and classification procedures; When histological examination requires confirmation of muscle cell origin; In cases of soft tissue masses with uncertain histological origin; For suspected inflammatory myopathies or muscular dystrophies
2. Normal Range
- Reference Values: Desmin immunostaining is a qualitative test reported as either positive or negative. Normal results show strong, diffuse staining in skeletal, smooth, and cardiac muscle cells, while negative results indicate absence of desmin expression.
- Interpretation of Results: Positive (Present): Desmin protein is detected in tissue, indicating muscle cell differentiation or muscle tumor origin; Negative (Absent): No desmin expression detected, suggesting non-muscular origin or poorly differentiated tumors; Focal/Weak: Limited desmin expression may indicate partial muscle differentiation or atypical muscular lesions
- Units of Measurement: Qualitative assessment (immunohistochemical staining intensity: negative, weak, moderate, or strong); Percentage of positive cells may also be reported (%)
- Normal vs. Abnormal: Normal findings show desmin positivity in known muscle tissues with expected distribution patterns; Abnormal findings include unexpected positive staining in non-muscle tumors (suggesting muscular differentiation) or negative staining in suspected muscle tumors (indicating alternative diagnosis or poor differentiation)
3. Interpretation
- Positive Desmin Expression: Indicates presence of muscle cells or muscle-derived tumors; Supports diagnosis of muscle-differentiated neoplasms such as rhabdomyosarcoma, leiomyosarcoma, or rhabdoid tumors; In normal tissue, confirms muscular origin and aids in tissue identification during pathological examination
- Negative Desmin Expression: Suggests non-muscular origin of the lesion; Helps exclude muscle-specific tumors from differential diagnosis; May indicate dedifferentiated or poorly differentiated malignant tumors that have lost muscle marker expression; Important in ruling out rhabdomyosarcoma when negative in appropriate clinical context
- Weak or Focal Staining: Indicates limited muscle differentiation; May suggest hybrid or biphasic tumors with mixed cell populations; Often requires correlation with additional immunohistochemical markers for accurate diagnosis
- Factors Affecting Results: Tissue fixation quality and processing techniques; Presence of necrosis or degenerative changes in tissue; Tumor grade and degree of differentiation; Previous chemotherapy or radiation affecting antigen expression; Antibody specificity and staining methodology; Tissue artifact or crush artifact affecting interpretation
- Clinical Significance: Desmin is highly sensitive for muscle cell identification and is among the most specific markers for muscular differentiation; Positive results significantly support muscle tumor diagnosis when combined with clinical and radiological findings; Negative results effectively exclude many muscle-specific tumors and guide further diagnostic workup; Results directly impact treatment planning, prognosis assessment, and tumor classification
4. Associated Organs
- Primary Organ Systems: Musculoskeletal system (skeletal muscles, smooth muscle in GI tract and vasculature, cardiac muscle); Connective tissue and soft tissues throughout the body; Blood vessels (smooth muscle layer); Urinary and reproductive systems (smooth muscle components)
- Commonly Associated Diseases: Rhabdomyosarcoma (embryonal, alveolar, or pleomorphic types); Leiomyosarcoma (smooth muscle-derived malignancy); Leiomyoma (benign smooth muscle tumor); Rhabdoid tumors; Myositis and inflammatory myopathies; Muscular dystrophies and myopathies; Myogenic differentiation in mixed tumors; Hemangiopericytoma and other soft tissue sarcomas
- Diagnostic Applications: Differential diagnosis of undifferentiated soft tissue tumors; Classification of sarcomas and confirmation of muscular origin; Distinction between primary muscle tumors and metastatic lesions; Assessment of tumor grade and differentiation status; Evaluation of atypical muscle lesions and pseudotumoral conditions
- Potential Complications: Misdiagnosis if results are incorrectly interpreted without clinical correlation; Delayed treatment initiation if diagnostic confirmation is prolonged; Surgical planning complications if tumor type is misidentified; Prognosis inaccuracy based on incorrect tumor classification; Potential for incomplete treatment if muscle-derived malignancy is not properly recognized
5. Follow-up Tests
- Complementary Immunohistochemical Markers: Myogenin and MyoD1 (for rhabdomyosarcoma confirmation); Smooth Muscle Actin (SMA) for smooth muscle differentiation; Caldesmon for smooth muscle specificity; CD56 (for muscle cell identification); Myoglobin for early myogenic differentiation; MDM2 and CDK4 for dedifferentiation assessment
- Additional Diagnostic Investigations: Electron microscopy for ultrastructural confirmation of muscle origin; Fluorescence In Situ Hybridization (FISH) for PAX3-FOXO1 or PAX7-FOXO1 translocations in rhabdomyosarcoma; Cytogenetic analysis for specific tumor-associated chromosomal abnormalities; Molecular genetic testing for mutation detection
- Staging and Monitoring Tests: CT or MRI imaging for tumor extent and metastatic evaluation; PET-CT scan for staging of malignant tumors; Chest CT for pulmonary metastasis screening; Baseline tumor marker levels if applicable; Regular surveillance imaging during treatment course
- Clinical Follow-up Recommendations: Multidisciplinary tumor board review for treatment planning; Regular clinical assessment during and after treatment; Imaging surveillance every 3-6 months during active treatment; Long-term follow-up imaging annually for minimum 5 years; Reassessment of tissue if diagnosis remains uncertain after initial testing
- Related Tests for Tissue Characterization: Hematoxylin and Eosin (H&E) histology for morphological assessment; Reticulin and trichrome stains for connective tissue evaluation; Ki-67 proliferation index for tumor aggressiveness; p53 immunostaining for genetic abnormalities; Additional IHC markers based on preliminary diagnostic impression
6. Fasting Required?
- Fasting Status: NO fasting is required for this test. Desmin immunohistochemical testing is performed on tissue biopsy specimens, not blood samples, so fasting guidelines do not apply.
- Specimen Collection Preparation: Tissue biopsy must be obtained via needle biopsy, excisional biopsy, or surgical resection; Specimens should be placed in appropriate fixative (typically 10% neutral buffered formalin) immediately after collection; Fixation time should be adequate but not excessive (generally 6-24 hours); Tissue must be properly labeled with patient identifiers and clinical information; Transport to pathology laboratory in appropriate container with chain of custody documentation
- Medications: No specific medications need to be avoided prior to tissue biopsy collection; Patient should continue taking regularly prescribed medications unless otherwise directed by the biopsy physician; Anticoagulants (warfarin, aspirin, NSAIDs) may need to be reviewed prior to biopsy to minimize bleeding risk; Local or general anesthesia may be used during biopsy procedure
- Patient Preparation Requirements: Informed consent must be obtained explaining the biopsy procedure and risks; Physical examination to localize lesion for sampling; Imaging guidance (ultrasound, CT, or fluoroscopy) may be utilized for accurate needle placement; Patient should avoid strenuous activity for 24-48 hours following biopsy; Biopsy site should be kept clean and dry; Follow post-procedure wound care instructions; Monitor for signs of infection, excessive bleeding, or other complications; Scheduled follow-up appointment to discuss results with clinician
- Timeline for Results: Initial H&E histology typically available within 3-5 business days; Immunohistochemical staining results usually available within 5-7 business days; Expedited processing available for urgent cases (24-48 hours with additional fees); Final pathology report integrating all findings typically completed within 7-10 business days; Results will be communicated to ordering physician for discussion with patient

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