Browsing by Subject "Lynch Syndrome"

Now showing 1 - 4 of 4
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    Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer
    (Elsevier, 2017-05) Durno, Carol; Boland, C. Richard; Cohen, Shlomi; Dominitz, Jason A.; Giardiello, Frank M.; Johnson, David A.; Kaltenbach, Tonya; Levin, T. R.; Lieberman, David; Robertson, Douglas J.; Rex, Douglas K.; Department of Medicine, School of Medicine
    The US Multi-Society Task Force on Colorectal Cancer, with invited experts, developed a consensus statement and recommendations to assist health care providers with appropriate management of patients with biallelic mismatch repair deficiency (BMMRD) syndrome, also called constitutional mismatch repair deficiency syndrome. This position paper outlines what is known about BMMRD, the unique genetic and clinical aspects of the disease, and reviews the current management approaches to this disorder. This article represents a starting point from which diagnostic and management decisions can undergo rigorous testing for efficacy. There is a lack of strong evidence and a requirement for further research. Nevertheless, providers need direction on how to recognize and care for BMMRD patients today. In addition to identifying areas of research, this article provides guidance for surveillance and management. The major challenge is that BMMRD is rare, limiting the ability to accumulate unbiased data and develop controlled prospective trials. The formation of effective international consortia that collaborate and share data is proposed to accelerate our understanding of this disease.
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    Tailoring Colorectal Cancer Surveillance in Lynch Syndrome: More Is Not Always Better
    (Science Direct, 2021-08-01) Maratt, Jennifer K.; Rubenstein, Joel H.; Medicine, School of Medicine
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    Trousseau Syndrome in a 25-Year-Old Woman with Occult Colon Malignancy, Lynch Syndrome, and Chronic Thromboembolic Pulmonary Hypertension
    (Allen Press, 2022) Matthews, Caleb R.; Madison, Mackenzie; Zhang, Chen; Waters, Joshua; Garcia, Jose P.; Beckman, Daniel; Surgery, School of Medicine
    We present a rare case of thrombosis associated with an occult colon malignancy (Trousseau syndrome) in a 25-year-old woman who also presented with previously unidentified Lynch syndrome and acute-on-chronic thromboembolic pulmonary hypertension. Staged treatment included bilateral pulmonary endarterectomy under deep hypothermic circulatory arrest, followed 11 days later by laparoscopic subtotal colectomy and creation of a primary anastomosis. The patient tolerated both procedures well and recovered normal functional status. Final pathologic analysis of the resected colon mass revealed a pT3N0, stage IIA adenocarcinoma; no adjuvant therapy was administered. At her one-year follow-up visit, the patient was cancer-free, remained on lifelong apixaban anticoagulation, and was undergoing routine monitoring and genetic counseling. This case highlights the need for multidisciplinary management of a patient with severe chronic thromboembolic pulmonary hypertension and a concomitant malignancy.
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    Two Months of Therapy: A Case of Pathologic Complete Response to Chemoimmunotherapy in a Patient With Metastatic Colorectal Cancer
    (Elsevier, 2017) Armstrong, Samantha; Al-Ghawi, Hayma; Helft, Paul; House, Michael G.; Spittler, Aaron J.; Wu, Howard H.; Shahda, Safi; Medicine, School of Medicine