12/28/2023 0 Comments Ferti lome root stimulator![]() The patient's history is negative for the latter two considerations. We considered three theories: Vanishing Twin Syndrome, history of transplant, or history of stem cell treatment. We have researched the literature extensively for a clear answer to explain the findings of our patient's two distinct genetic profiles, but have not found a direct answer. She had a low Oncotype Dx score and was started on Aromasin. The right breast pathology showed intermediate to high grade 4.5 cm DCIS with necrosis as well as well differentiated 5 mm mucinous type IDC, ER+PR+/ Ki-67 12 percent/Her-2 negative, with negative sentinel nodes, stage IA. The left breast pathology showed a 1.4 cm well-differentiated IDC, as well as DCIS, with negative sentinel nodes, stage IA. She underwent a bilateral mastectomy and bilateral sentinel node biopsy (SNB). Her genetic profiles were similar enough to indicate they were first degree relatives. Therefore, it was concluded the patient had two distinct genetic profiles, known as chimera, making her BRCA analysis inconclusive. Additional genotype testing using short tandem repeat markers was performed showing an additional minor allele at several sites. ![]() The BRCA2 sequencing results consistently showed several benign polymorphic variants at levels that diverged from the 50:50 representations expected for heterozygous germline variants. The patient's BRCA1 and BRCA2 analysis was deemed inconclusive due to evidence of mixed genotypes. A "Know Error" test using a buccal swab specimen from the patient at the time of the breast biopsies was confirmed to be a match with the breast specimens. Her MRI showed bilateral breast masses with the one on the right being in close proximity to the pectoralis muscle. The ultrasound guided biopsy of the left breast revealed well-differentiated infiltrating ductal carcinoma (IDC) ER/PR positive, Ki-67 2%, HER 2 negative. The ultrasound guided biopsy of the right axillary tail and the 12:00 mass showed low to intermediate grade ductal carcinoma in situ (DCIS) with extensive necrosis, ER/PR positive. No palpable masses were noted in the left breast. A sub centimeter mass like lesion at 12:00, 6 centimeters from the nipple, was noted as well. On physical exam, there was an obvious four-centimeter mobile mass in the upper outer quadrant of the right breast, 11:00, 6 centimeters from the nipple. Patient also has a significant family history of a mother with colon cancer (deceased 88 years old) and a father with bladder cancer (deceased 78 years old). Identifiable risk factors included early menarche (age 9), family history of breast cancer in her paternal aunt (diagnosed age 60) and maternal cousin (diagnosed age 27). This is a 68 year old female with medical history significant for diabetes type two and hyperlipidemia who presented to the breast clinic after feeling a right breast mass on self-exam. Because our patient was incidentally found to be chimeric during BRCA analysis and denies history of transplant, her chimera is most probably explained by the Vanishing Twin Syndrome. The finding of chimera in a human being may be explained by Vanishing Twin Syndrome, history of stem cell treatment, or history of transplant. In the future, it would be interesting to research whether chimera is, in fact, linked to Vanishing Twin syndrome, and whether these patients have any distinct protection from or predilection for certain disease processes.īRCA analysis Chimeric Vanishing twin theory Pathology Bilateral mastectomy IntroductionĬhimeras are defined as beings formed by combining the whole cells of genetically different organisms into a single organism. ![]() We can only conclude that the Vanishing Twin theory is the most likely explanation of chimera in this single patient.Ĭonclusions: We were unable to find any direct explanation for our results but we do propose this as an interesting case, as chimera is rare. However, our search was not satisfied by any direct evidence. Methods: In this case report, we have described the presentation and operative course of a single patient of our Breast Center in 2017 to help define the setting of our unique BRCA analysis result.įindings: We have also done an extensive literature search in an attempt to understand the implications of the BRCA analysis result in a chimeric patient. ![]() We have found no other reported cases of chimera linked to Vanishing Twin Syndrome in the literature. We propose the Vanishing Twin theory as the most probable explanation. The BRCA analysis was inconclusive due to the specimen being chimeric, or having two distinct genetic profiles. Background: Our case study proposes an explanation for the inconclusive BRCA testing we received on one of our patients.
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