1 SHO in Gen. Surgery, St Helen s & Whiston Teaching Hospitals, NHS, University of Liverpool, 2Staff Grade in Gen.Surgery, St Helen s & Whiston Teaching Hospitals, NHS, University of Liverpool, 3 Surgeon and Associate Specialist in Breast & General Surgery, St Helen s & Whiston Teaching Hospitals, NHS, University of Live
Introduction Ataxia telangiectasia (A-T) (Boder-Sedgwick syndrome or Louis Bar syndrome) is a rare autosomal recessive early childhood disorder, characterized by progressive neuronal degeneration, immunological deficiency, radiosensitivity and an increased risk of cancer caused in most cases by mutations in the AT-mutated gene (ATM). Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the diseases. The gene, ataxia-telangiectasia mutated (ATM), discovered in 1995, is on chromosome 11. The ATM protein is a large serine-threonine kinase thought to play a role in regulating cell cycle checkpoints, repair of double stranded DNA and meiosis (similar to the BRCA genes). ATM is also known to play a role in regulating p53, BRCA1 and CHEK2.People with A-T also have about a 40% risk of developing cancer. The most common types of cancer seen in people with A-T are leukemia and lymphoma. As people with A-T live longer, there appears to be an increased risk of other cancer types, including breast cancer, ovarian cancer, stomach cancer, melanoma, and sarcoma. In our case report, we present a young girl with A-T who was diagnosed with invansive breast cancer and the challenging part of the treatment of such patients due to the known co morbidities of the underlying disease.
Case Report 20 year old lady with a Background of A-T and leukaemia as a child was presented to the Breast Unit with an a suspicious 4cm lump in the left breast. After core biopsy was performed the histological results revealed a grade III carcinoma ER (+) PR (+) Her2 (-).Neo adjuvant endocrine therapy was started with Zoladex and Tamoxifen in which the tumour responded quite well. Due to known immunological deficiency of these patients immunoglobulin was arranged to be given one week prior to surgery and because of the high risk these patients developing chest infections a bed in Intensive Care Unit for the first days after the operation was decided as being appropriate. No complications were presented from anaesthetic point of view and a mastectomy with level 3 axillary lymph node clearance was performed as planned. Patient recovered for three days in ICU without any problems and finally returned to the ward where she was discharged from two days later on oral antibiotics. As the biopsy had shown grade III invasive ductal carcinoma with node invansion and since these patients are not tolerating radiotherapy, endocrine treatment was decided to close the loop of the treatment in which the patient has been responding quite well until now.
Conclusions - Discussion The underlying pathology of patients with ataxia atelegectasia should always alert any doctor of any specialty for an underlying invasive cancer when there is a complaint of breast abnormality presented, and a breast surgeon or unit should be immediately involved for further treatment. Due to the uniqueness of the disease a surgical team should be prepared to face all the complications that could emerge due to the, immunological deficiency, vessel dilatation, and radiosensitivity charecterising these patients and modification to the treatment plan should always be considered. Finally, an established screening program for all type of cancers for these patients would be valuable.
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