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FISH for t(17;22) COL1A1/PDGFB

FISH for t(17;22) COL1A1/PDGFB

FISH for t(17;22) COL1A1/PDGFB is a specialized test used in the diagnosis of dermatofibrosarcoma protuberans (DFSP), a rare type of skin tumor that arises in the dermis and can infiltrate deeper layers of the skin and underlying tissue. DFSP is a low-to-intermediate grade malignancy and is characterized by the specific chromosomal translocation t(17;22). This translocation results in the fusion of the COL1A1 gene on chromosome 17 with the PDGFB gene on chromosome 22, leading to the overexpression of platelet-derived growth factor (PDGF) which contributes to tumor growth.

Fluorescence in situ hybridization (FISH) is a laboratory technique that uses fluorescent probes to detect specific DNA sequences in the chromosomes. In the context of DFSP, FISH is used to identify the t(17;22) translocation, which is a hallmark of this condition, and plays a vital role in confirming the diagnosis and guiding treatment decisions.


  • Test NameFISH for t(17;22) COL1A1/PDGFB
  • Sample TypeTissue Sample
  • Preparations RequiredNo specific preparation is required.
  • Report Time12 days

What is FISH for t(17;22) COL1A1/PDGFB?

FISH for t(17;22) COL1A1/PDGFB is a diagnostic test that detects the chromosomal translocation between chromosomes 17 and 22, which is characteristic of dermatofibrosarcoma protuberans (DFSP). The test is performed on a tissue sample, typically obtained through a biopsy.

Why is the FISH for t(17;22) COL1A1/PDGFB test done?

The test is used to confirm the diagnosis of DFSP, a rare type of skin cancer. The identification of t(17;22) translocation is important for distinguishing DFSP from other skin tumors and for planning appropriate treatment strategies.

Home Sample Collection Process

1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
Download Reports
Download Reports
Frequently Asked Questions

Individuals who have a skin lesion suspected to be DFSP, based on clinical examination and initial histopathological evaluation, should undergo this test.

A positive result indicates the presence of the t(17;22) translocation, which is highly indicative of DFSP. This information can be used to confirm the diagnosis and to guide the therapeutic approach.

Surgery is the primary treatment for DFSP, aiming to remove the tumor and a margin of healthy tissue. In some cases, radiation therapy is used in addition to surgery. Targeted drug therapy with imatinib may also be used, especially in advanced cases.

No, DFSP typically grows slowly but can be locally aggressive. It has a tendency to recur after treatment, but it is less likely to metastasize (spread to other parts of the body) compared to other types of cancer.

There is no known way to prevent DFSP as the exact cause of this disease is not known. It is important to consult a doctor for any persistent skin lesions or changes in the skin that don’t heal.

The sample for the FISH test is generally collected through a biopsy, where a small piece of tissue is removed from the skin lesion under local anesthesia.

Risks associated with the biopsy procedure include pain, infection, and bleeding at the site of the sample collection.

After diagnosis, the doctor will discuss the appropriate treatment options. Regular follow-up appointments are essential to monitor the response to treatment and check for recurrence.

Yes, there are ongoing clinical trials investigating new treatments and strategies for DFSP.

Yes, support groups and cancer organizations can be helpful resources for patients and families affected by DFSP.

Maintaining a balanced diet, staying active, and managing stress through counseling or support groups can improve the quality of life for patients with DFSP.

If diagnosed with DFSP, it is advisable to consult an oncologist, particularly a surgical oncologist experienced in treating skin cancers.

There is no evidence to suggest that DFSP is hereditary. It is considered a sporadic tumor, meaning that it occurs by chance.

Dermato fibro sarcoma protuberans (DFSP) is a rare type of skin cancer that requires specialized testing for accurate diagnosis. The FISH for t(17;22) COL1A1/PDGFB test is instrumental in confirming the diagnosis of DFSP by detecting the characteristic chromosomal translocation. Identifying this translocation not only confirms the diagnosis but is also vital in guiding treatment decisions. It is crucial for patients to be well-informed and actively engage with their doctor in managing DFSP. Regular follow-up, adherence to treatment, and maintaining a healthy lifestyle are essential components of effective management.

FISH for t(17;22) COL1A1/PDGFB
₹ 43000
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Locations Near You in Hyderabad
  • 4KM from Madhapur
  • 3KM from Banjara Hills
  • 1.9KM from Yusufguda
  • 3KM from Madhura Nagar
  • 5KM from Shaikpet