PMS2 germline mutation c.1577delA (p.Asp526Alafs∗69)-induced Lynch syndrome-associated endometrial cancer: A case report

Rationale: Lynch syndrome (LS) is an autosomal dominant cancer predisposition condition caused by germline heterozygous mutations in mismatch repair (MMR) genes. However, as one of the MMR genes, PMS2 mutation-induced LS-associated endometrial cancer (LSAEC) was rarely reported. Patient concerns: A 26-year-old female patient suffered from prolonged menstrual period and increased menstrual flow for 2 months. Diagnoses: The patient was diagnosed with cervix CIN III, endometrial cancer (EC), anemia, and LS. Interventions: Total hysterectomy, bilateral salpingectomy, pelvic lymphadenectomy were performed for treating EC, while ovariectomy was refused by the patient. The patient underwent postoperative chemotherapy with paclitaxel combined with carboplatin for 6 courses of treatment. Laparoscopic partial enterectomy was applied for treating colon cancer 5 years later after the surgery treatment for EC. Besides, Sanger sequencing and high-throughput genome sequencing were employed to detect the genetic status of the family that included two generations with four members. Immunohistochemistry (IHC) staining was used to identify the function of PMS2 mutation. Outcomes: The 26-year-old Chinese patient suffered from LSAEC and recovered well after surgery. A PMS2 germline heterozygous mutation (c.1577delA) was confirmed by gene sequencing 5 years later. In addition, PMS2 mutation was verified by IHC. The patient was followed up for 7 years. Lessons: Carrying PMS2 germli...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Related Links:

We present a surgical technique that diminishes tension of the repair with MCPJ flexion. Twenty-two EDC tendon stabilization procedures were performed between 2006 and 2017 using a tendon flap method. The selection criteria for this group of patients included completely dislocating extensor tendons with persistent complaints of pain and decrease in finger extension despite at least a 6-week conservative treatment attempt. All subjects underwent surgical treatment for tendon centralization using a distally based tendinous flap from the EDC sutured to the adjacent finger volar plate. A mathematical model was developed to ana...
Source: Techniques in Hand and Upper Extremity Surgery - Category: Surgery Tags: Technique Source Type: research
We report a novel technique of modified dorsal intercarpal ligament (DICL) capsulodesis for the treatment of SL dissociation. The surgical indication for this procedure is complete SL ligament tear with a reducible carpal malalignment and no secondary osteoarthritis. This procedure is indicated when the remnant of torn ligament in the dorsal SL interosseous space is available for repair. First, carpal malalignment is corrected and the scaphoid and the lunate are temporarily fixed with a transosseous screw or Kirschner wires. Using a dorsal approach, the DICL is then exposed, which originates from the triquetrum and attache...
Source: Techniques in Hand and Upper Extremity Surgery - Category: Surgery Tags: Technique Source Type: research
We present a case report of an adult woman with AKL-positive ALCL, diagnosed by endobronchial ultrasound-guided transbronchial needle aspirate (EBUS-TBNA).A 59-year-old women with no history of breast implants, was admitted for a four-month low back pain. Initially, the patient was treated for a spondyloarthropathy, but due to persistence of the symptoms, a lumbosacral MRI was performed, showing changes in morphology and signal intensity in the vertebral body of L3, along with edema and a paravertebral collection that affected the left psoas muscle, suggesting granulomatous spondylodiscitis. Chest CT-scan showed mild left ...
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
Thousands of men across the world have participated in randomized clinical trials testing the role of hormone therapy in the curative treatment of localized, high-risk prostate cancer. Over several decades, we have established that long-term hormone therapy improves survival, even in the setting of dose-escalated external beam radiation therapy (EBRT).1 Recently reported clinical trials suggest that for some men 18 months of hormone therapy may be a suitable duration that balances treatment efficacy with quality-of-life preservation.
Source: International Journal of Radiation Oncology * Biology * Physics - Category: Radiology Authors: Tags: Editorial Source Type: research
We welcome 3 new associate editors: Drs Christopher Anker (University of Vermont Larner College of Medicine), Michael Buckstein (Icahn School of Medicine at Mount Sinai), and Jordan Kharofa (University of Cincinnati College of Medicine), whom were selected for their timely and thoughtful critiques as Red Journal reviewers. Although all 3 reviewers are experts in gastrointestinal (GI) radiation oncology, Dr Anker provides expertise in esophageal and rectal cancers, Dr Buckstein in liver cancers and translational science, and Dr Kharofa in pancreatic and anal cancers.
Source: International Journal of Radiation Oncology * Biology * Physics - Category: Radiology Authors: Tags: Feature Source Type: research
To clarify the relative effects of duration of androgen suppression (AS) and radiation dose escalation (RDE) on distant progression (DP) in men with locally advanced prostate cancer.
Source: International Journal of Radiation Oncology * Biology * Physics - Category: Radiology Authors: Tags: Clinical Investigation Source Type: research
We thank the authors1 for their letter highlighting the critical issues facing the feasibility and efficacy of stereotactic ablative radiation (SAbR) as a boost for patients with cervical cancer unable to receive standard brachytherapy.
Source: International Journal of Radiation Oncology * Biology * Physics - Category: Radiology Authors: Tags: Comment Source Type: research
We applaud the University of Texas Southwestern Department of Radiation Oncology for conducting “A phase II trial of stereotactic ablative radiotherapy as a boost for locally advanced cervical cancer,” a necessary prospective study on definitive dose delivery for patients unable to undergo brachytherapy.1 The involved trialists were undoubtedly deliberate and meticulous in its design and e xecution, akin to their groundbreaking work with lung stereotactic body radiation therapy (SBRT). Although these results unfortunately showed high rates of rectal toxicity, the data does not indicate a failure of SBRT, but ra...
Source: International Journal of Radiation Oncology * Biology * Physics - Category: Radiology Authors: Tags: Comment Source Type: research
A 58-year-old female presents with a 1-year history of hematochezia, 20-pound weight loss, and increased straining with bowel movements. She denies increased bowel frequency or change in stool caliber. Her medical history is notable for irritable bowel syndrome, but otherwise unremarkable. She has no family history of malignancy and does not take any prescribed medications or supplements. She denies abdominal pain, bone pain, or any symptoms concerning for metastatic disease. Her initial physical examination was notable for an Eastern Cooperative Oncology Group performance status of 0, and presence on digital rectal examin...
Source: International Journal of Radiation Oncology * Biology * Physics - Category: Radiology Authors: Tags: Gray Zone Source Type: research
In Africa, there were over 846,000 new cancer cases and 591,000 deaths in 2012. These figures are projected to rise to 1.27 million cases and 0.97 million deaths annually by 20301 as a result of population growth and aging alone.
Source: International Journal of Radiation Oncology * Biology * Physics - Category: Radiology Authors: Tags: Feature Source Type: research
More News: Anemia | Cancer | Cancer & Oncology | Cervical Cancer | Chemotherapy | China Health | Colon Cancer | Colorectal Cancer | Endometrial Cancer | Gastroschisis Repair | Genetics | HNPCC | Hysterectomy | Internal Medicine | Laparoscopy | Lessons | Lynch Syndrome | Men