OpenMed/multicare-articles huggingface dataset:
An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report
Authors: Stephanie A Cohen, Christopher A Tan, Ryan Bisson
Journal: Front Genet (2016)
Keywords: lynch syndrome, mutyh-associated polyposis, case report, genetic counseling, hereditary cancer, next-generation sequencing

The utilization of next-generation sequencing technology to interrogate multiple genes simultaneously is being utilized more frequently in hereditary cancer testing. While this has benefits of reducing cost and allowing clinicians to cast a wide net in the elucidation of their patient's cancer, panel testing has the potential to reveal unexpected information. We report on a proband with pathogenic variants resulting in two different hereditary colon cancer syndromes. A 39-year-old male with a history of colon cancer, more than 20 colon polyps and a family history of colon cancer presented for genetic counseling. Testing with a 7-gene high-risk hereditary colon cancer panel identified a homozygous pathogenic variant, c.1187G>A (p.Gly396Asp) in MUTYH, and a likely pathogenic duplication of exon 7 in MSH2. Since this test result, the proband's mother was diagnosed with colon cancer; subsequent genetic testing confirmed she also carries the likely pathogenic duplication in the MSH2 gene. Although the cancer risk in individuals who carry multiple pathogenic variants has not been established for combined biallelic MUTYH-associated polyposis and Lynch syndrome, the identification of multiple pathogenic variants does allow for screening for cancers associated with both syndromes and has implications for cancer risk for family members. In particular, this has significant impact on those who test negative for a known familial pathogenic variant, yet could be still be at risk for cancer due to a second pathogenic variant in a family. More information is needed on the frequency of occurrence of multiple pathogenic variants, as well as the phenotypic spectrum when multiple pathogenic variants are present.
Simultaneous occurrence of distant metastases to the small intestine and the thoracic esophagus from anaplastic thyroid carcinoma: a case report
Authors: Makoto Kobayashi, Hidenori Itabashi, Tatsuru Ikeda, Norikazu Yamazaki, Tomohito Kaji, Akinori Takagane
Journal: Surg Case Rep (2015)
Keywords: anaplastic thyroid carcinoma, esophagus, metastases, small intestine

Anaplastic thyroid carcinoma (ATC) is an aggressive malignancy and characterized by spreading to regional lymph nodes and distant metastases, but we were unable to find a previous report of simultaneous metastases of transformed ATC to either the small intestine or thoracic esophagus in the English language literature. A 60-year-old man suffered from well-differentiated thyroid carcinoma and underwent total thyroidectomy. Eight years later, local recurrence of thyroid cancer showed intense fluorodeoxyglucose/positron emission tomography (FDG-PET) uptake at the paratracheal region, which was suspected as a remnant tumor of the thyroid that transformed from differentiated to ATC. At that time, the patient underwent resection of the small intestine to remove an abdominal mass and consequently developed stenosis of the thoracic esophagus caused by the esophageal tumor. Histological scrutiny of specimens from both tumors in the small intestine and thoracic esophagus demonstrated the same pattern as that of undifferentiated carcinoma. Regarding histological verification and a change in the FDP-PET uptake level, it is strongly possible that our case demonstrated coincident metastases of ATC to both the small intestine and esophagus. In conclusion and to the best of our knowledge, this report is the first to present evidence suggesting that ATC has the potential to metastasize to any organs, including the digestive tract.
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
Authors: Katharina Wimmer, Andreas Beilken, Rainer Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke-Plaass, Ulrich Lehmann, Johannes Zschocke, Laura Valle, Christine Fauth, Christian P Kratz
Journal: Fam Cancer (2017)
Keywords: café-au-lait macule, colon cancer, constitutional mismatch repair deficiency, pilomatricoma, polymerase proofreading-associated polyposis
MeSH terms: Brain Neoplasms / genetics, Colorectal Neoplasms / genetics, DNA Polymerase II / genetics, Germ-Line Mutation, Neoplastic Syndromes, Hereditary / genetics, Case Reports, Adolescent, Age of Onset, Cafe-au-Lait Spots / genetics, Hair Diseases / genetics, Humans, Male, Microsatellite Instability, Pilomatrixoma / genetics, Poly-ADP-Ribose Binding Proteins, Skin Neoplasms / genetics, Poly-ADP-Ribose Binding Proteins, DNA Polymerase II, POLE protein, human, Turcot syndrome

In a 14-year-old boy with polyposis and rectosigmoid carcinoma, we identified a novel POLE germline mutation, p.(Val411Leu), previously found as recurrent somatic mutation in 'ultramutated' sporadic cancers. This is the youngest reported cancer patient with polymerase proofreading-associated polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations. The patient had multiple café-au-lait macules and a pilomatricoma mimicking the clinical phenotype of constitutional mismatch repair deficiency. We hypothesize that these skin features may be common to different types of constitutional DNA repair defects associated with polyposis and early-onset cancer.
Perforated mucocele of the appendix in the left upper quadrant: A challenging anatomy and an improvised surgical technique
Authors: Basmah Faris Alhassan, Abdullah Saji Alharbi, Walid Mokhtar Omar, Mohammed Ayesh Zayed, Maha Abdulla, Thamer Abdulla Bin Traiki
Journal: Int J Surg Case Rep (2019)
Keywords: case report, colon resection, hipec, malrotation, mucocele, pseudomyxoma peritonei

Introduction:
Pseudomyxoma peritonei (PMP) is a feared complication of appendicular mucocele perforation. Although a rare disease, its major sequel mandates recognition and early intervention. Intestinal malrotation is mostly asymptomatic in adults. Its significance arises when it complicates another coinciding condition by confusing the presentation, leading to delay in diagnosis and treatment. PMP and incidental finding of gut malrotation in adults are two rare events, and the chance of both occurring in the same patient is very slim. This can complicate the clinical picture and lead to devastating outcomes.
Presentation of the case:
We present a case of PMP in a patient with gut malrotation, managed with cytoreductive surgery (CRS) and heated intraperitoneal chemotherapy (HIPEC).
Discussion:
Management with CRS/HIPEC has been found to improve outcomes for patients with PMP. However, the extensive disease and abnormal anatomy of the patient in our report proposed unique intraoperative challenges. Preserving part of the colon was possible with an improvised surgical technique that we used which proved to be safe and effective.
Conclusion:
Early recognition and consideration of uncommon but serious surgical conditions are essential for improved patient outcomes. To our knowledge, this is the first report in the English literature that describes the use of CRS/HIPEC for PMP in a case of intestinal malrotation. This improvised surgical technique was found to be safe and can provide a surgical solution for preserving part of the colon in selected patients.
A single bolus of high dose levothyroxine (L-T4) as a test in cases of suspected poor compliance to L-T4 therapy
Authors: Krzysztof C Lewandowski, Katarzyna Dąbrowska, Iwona Komorowska-Dudek, Andrzej Lewiński
Journal: Thyroid Res (2015)
Keywords: adherence, compliance, levothyroxine
MeSH terms: Case Reports

Background:
Though compliance (or adherence) problems, as well as inappropriate levothyroxine (L-T4) intake (e.g. with meal, other drugs or certain foods that can significantly affect absorption) are very common, the issue is often either not mentioned or even frankly denied by patients.
Case presentation:
We describe three cases of patients who presented with high TSH (ranging from about 30 to 200 mIU/l), with concomitantly either high, normal or low free thyroxine (FT4), despite treatment with high doses of L-T4. The above mentioned problems with adjustment of L-T4 dose persisted for several months or even years. Coeliac disease screen was negative in all cases. In all these patients administration of a single bolus of L-T4 (1000 μg) or two doses of 1000 μg of L-T4 within 48 h resulted in a quick increase in FT4 (thus confirming proper absorption) and in normalization of TSH within a week. No adverse effects of administration of these high doses of L-T4 were observed.
Conclusions:
Our data support the efficacy, as well as safety of administration of single bolus of high dose L-T4 as a test for possible compliance/adherence problems.
HAV Infection Associated with Hemophagocytic Syndrome
Authors: H Aamri, R Elqadiry, H Nassih, A Bourrahouat, I Ait Sab
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Hemophagocytic syndrome is a rare disease that can cause severe illness and death. This condition is caused by the presence of antibodies against the hepatitis A virus. A positive anti-IGM antibody was identified in our 7-year-old patient with severe hepatitis A. A week after the hepatitis A was diagnosed, the patient experienced pancytopenia, which was worsened by prolonged fever. He was then diagnosed with macrophage activation syndrome. The treatment with steroids improved the clinical and biological evolution of the condition.
HRAS mutation positive multiple myeloma in the type 2 CALR mutation positive essential thrombocythemia: A case report
Authors: Krzysztof Lewandowski, Agata Kopydłowska, Zuzanna Kanduła, Bartłomiej Sankowski, Marcin Machnicki, Marta Barańska, Kinga Gwóźdź-Bąk, Tadeusz Kubicki, Anna Płotka, Łucja Przysiecka, Grzegorz Dworacki, Piotr Kozłowski, Tomasz Stokłosa
Journal: J Cell Mol Med (2023)
Keywords: calr, hras, essential thrombocythemia, multiple myeloma
MeSH terms: Multiple Myeloma / complications, Multiple Myeloma / genetics, Myeloproliferative Disorders / genetics, Thrombocythemia, Essential / complications, Thrombocythemia, Essential / diagnosis, Thrombocythemia, Essential / genetics, Case Reports, Research Support, Non-U.S. Gov't, Calreticulin / genetics, Calreticulin / metabolism, Genomic Instability, Humans, Janus Kinase 2 / metabolism, Middle Aged, Mutation / genetics, Proto-Oncogene Proteins p21(ras) / genetics, Janus Kinase 2, Calreticulin, HRAS protein, human, Proto-Oncogene Proteins p21(ras)

Out of BCR-ABL negative myeloproliferative neoplasm (MPNPh- ) patients, 3%-14% display a concomitant monoclonal gammopathy of unknown significance (MGUS). In most cases, the diagnosis of plasma cell dyscrasia is either synchronous with that of MPNPh- or occurs later on. We present a 50-year-old patient with type 2 CALR Lys385Asnfs*47 mutation positive essential thrombocythemia (ET) who developed symptomatic multiple myeloma (MM) 13 years after the diagnosis of ET during PEG-INF2α treatment. The NGS study performed at the time of the MM diagnosis revealed the HRAS Val14Gly/c.41T〉G mutation and the wild type CALR, JAK2 and MPL gene sequence. In the presented case, the complete molecular remission of ET was achieved after 16 months of PEG-INF2α treatment. The origin of MM cells in MPNPh- patients remains unknown. Published data suggests that type 2 CALRins5 up-regulate the ATF6 chaperone targets in hematopoietic cells and activate the inositol-requiring enzyme 1α-X-box-binding protein 1 pathway of the unfolded protein response (UPR) system to drive malignancy. It cannot be excluded that endoplasmic reticulum stress induced by the increased ATF6 resulted in an abnormal redox homeostasis and proteostasis, which are factors linked to MM. The presented case history and the proposed mechanism of mutant CALR interaction with UPR and/or ATF6 should initiate the discussion about the possible impact of the mutant CALR protein on the function and genomic stability of different types of myeloid cells, including progenitor cells.
Ligature of the Left Main Coronary Artery after Surgery in Kawasaki Disease: Case Report
Authors: Laura Varela Barca, José López-Menéndez, Ana Redondo Palacios, Jorge Rodríguez-Roda Stuart
Journal: Braz J Cardiovasc Surg (2019)
MeSH terms: Coronary Aneurysm / etiology, Coronary Aneurysm / surgery, Coronary Artery Bypass / methods, Mucocutaneous Lymph Node Syndrome / complications, Mucocutaneous Lymph Node Syndrome / surgery, Case Reports, Acute Coronary Syndrome / surgery, Computed Tomography Angiography / methods, Coronary Aneurysm / diagnostic imaging, Humans, Ligation, Male, Mammary Arteries / surgery, Treatment Outcome, Young Adult

We report a case of a 23-year-old man who was diagnosed with Kawasaki disease that progressed to a coronary aneurysm in the left main coronary artery (LMA). He had suffered from acute coronary syndrome and then underwent an emergent percutaneous coronary angioplasty, in which a polyurethane-covered stent was placed inside the aneurysm. The stent was thrombosed one year later, despite the patient had been treated with anticoagulant and antiplatelet therapy. Emergency percutaneous intervention was then performed. LMA was reopened and stent malposition was observed. Therefore, urgent coronary bypass grafting was performed in which a high degree of competitive flow was observed through the reopened stent. LMA was ligated at the inflow of the aneurysm, resulting in an improvement of graft flow. Left main ligature has not been previously reported.
A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin
Authors: Ana Catarina Lunz Macedo, Lazara Elena Santisteban Lores, José Antonio Tavares Albuquerque, Nilo José Coelho Duarte, Paschoalina Romano, Persio Almeida Rezende Ebner, Vinicius Marcondes Rezende, Clovis A Silva, Luís Eduardo Coelho Andrade, Dewton Moraes Vasconcelos, Lourdes Isaac
Journal: Front Pediatr (2022)
Keywords: fh deficiency, case report, curcumin, experimental treatment, lupus, translational medicine
MeSH terms: Case Reports

Factor H (FH) is one of the most important regulatory proteins of the alternative pathway of the complement system. FH deficiency is a rare condition that causes unregulated C3 consumption, leading to an increased susceptibility to infections and glomerulopathies. Our previous studies have demonstrated a FH deficient patient carrying a c.452G > A, p.R127H FH mutation which leads to a misfolded protein and its retention in the endoplasmic reticulum. In his cultured fibroblasts, FH-delayed secretion was partially rescued when treated with curcumin, and once secreted, exhibited normal regulatory function. Here, we report a childhood-onset systemic lupus erythematosus (cSLE) in this FH deficient patient and the results of experimental treatment with curcumin aiming to rescue FH secretion and regulatory activity.
HSCT-GAVE as a Manifestation of Chronic Graft versus Host Disease: A Case Report and Review of the Existing Literature
Authors: Michael J Grant, Mitchell E Horwitz
Journal: Case Rep Transplant (2018)
MeSH terms: Case Reports

Gastric antral vascular ectasia or "watermelon stomach" is a significant cause of nonvariceal upper GI bleeding and is characterized by red, tortuous ectatic vessels along longitudinal folds in the gastric antrum. The existing literature links GAVE to patients with cirrhosis, scleroderma, bone marrow transplantation, and chronic renal failure among other associations, but its pathophysiology remains ill-defined. Over 30 cases of hematopoietic stem cell transplant-related GAVE (HSCT-GAVE) have been reported in the literature to date and there are likely many more that go undiagnosed or are attributed to another cause of upper gastrointestinal bleeding. Interestingly, a busulfan-containing conditioning regimen has been the primary factor implicated in the etiology of HSCT-GAVE because this was common to all cases in the literature to date. Here, we present the first case of HSCT-GAVE in a patient that was treated with a non-busulfan-containing conditioning regimen. We propose a link between chronic GVHD and the development of HSCT-GAVE that is supported by a similar development of GAVE in patients with systemic sclerosis.
Bilateral Paget's Disease of the Breast-Case Report of Long-Time Misdiagnosed Tumors with Underlying Ductal Carcinomas and Review of the Literature
Authors: Dietrich Barth
Journal: Case Rep Dermatol Med (2014)

Paget's disease of the breast is often misdiagnosed. We report on a 72-year old patient with a history of 2.5 years without any malignant findings, followed by the identification of a bilateral Paget's disease with bilateral breast cancers. This case underlines how important histological examinations even in unusual clinical pictures are.
Hemangioendothelioma arising from the spleen: A case report and literature review
Authors: Zhendan Wang, Liang Zhang, Bo Zhang, Dianbin Mu, Kai Cui, Sheng Li
Journal: Oncol Lett (2015)
Keywords: hemangioendotheliomas, partial splenectomy, spleen

Primary hemangioendotheliomas (HEs) of the spleen are rare, low-grade borderline-malignant vascular tumors. To date, only a few splenic HE cases have been reported in adults. In infants, one 9-year-old male patient has previously been reported, and the patient succumbed to the disease shortly following surgery. Currently, the clinical treatment and prognosis of the disease remains challenging to define, due to the extremely low number of cases reported. The current report presents the case of a 9-year-old pediatric patient with splenic HE, who survived with no recurrence or complications following a partial splenectomy. Additionally, a literature review was conducted to analyze the treatment and prognosis of the disease.
Unusual Course of Scimitar Syndrome Preceded by Lung Hypoplasia
Authors: Yusuke Hoshino, Junichi Arai
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

In patients with Scimitar syndrome, right pulmonary artery hypoplasia is considered to lead to right lung hypoplasia because of decrease in blood flow. However, there are no reports wherein the change was actually detected. Thus, the exact developmental mechanism of right pulmonary artery hypoplasia and right lung hypoplasia in patients with Scimitar syndrome is unclear. We experienced a case of Scimitar syndrome preceding right lung hypoplasia, and right pulmonary artery hypoplasia gradually revealed with time. We hypothesized that, in our patient, the lung hypoplasia led to pulmonary artery hypoplasia due to decrease in blood flow. If there are no differences in the diameter of the left and right pulmonary artery in patients with Scimitar syndrome at birth, we propose the necessity of careful observation due to the possibility that pulmonary artery hypoplasia may develop in the future.
Gingival bleeding of a high-flow mandibular arteriovenous malformation in a child with 8-year follow-up
Authors: Elvira Ferrés-Amat, Jordi Prats-Armengol, Isabel Maura-Solivellas, Eduard Ferrés-Amat, Javier Mareque-Bueno, Eduard Ferrés-Padró
Journal: Case Rep Pediatr (2015)

Intraosseous arteriovenous malformations (AVMs) in the head and neck region are uncommon. There are several types and they can have a wide range of clinical presentations. Depending on the blood flow through the AVM, the treatment may be challenging for the attending team and may lead to life-threatening hemorrhages. A clinical case report is presented. A 9-year-old girl, seen for gingival bleeding during oral hygiene, was found to have a high-flow AVM located within and around the mandible. Two-stage treatment consisted of intra-arterial embolization followed by intraoral injection of a sclerosing agent 8 weeks later. At the 8-year follow-up, imaging study showed no evidence of recurrent lesion inside or outside the bone. The final outcome is a correct occlusion with a symmetric facial result. This case shows that conservative treatment may be the first treatment option mostly in children. Arteriography and transcortical injection were enough to control the AVM.
Phenytoin and Rifampin Do Not Decrease Levels in Acute Tacrolimus Toxicity
Authors: Benjamin O Lawson, Heemesh Seth, Dan Quan
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: bone marrow transplant, phenytoin, rifampin, tacrolimus toxicity

Tacrolimus is used in bone marrow transplant patients to prevent graft-versus-host disease. There have been few case reports of tacrolimus toxicity (>30 ng/mL) in solid organ recipients as well as in nontransplant patients. Several case reports suggest phenytoin and rifampin decrease tacrolimus levels in toxicity, but does it actually make a difference? A 60-year-old man with acute myeloblastic leukemia after allogenic stem cell transplant with fever, diarrhea, and abdominal pain was transferred to the intensive care unit for persistent hypotension and acute hypoxic respiratory failure requiring intubation. The following day his tacrolimus level was 8.6 ng/mL and creatinine was 2.2 (baseline = 1.8). The patient inadvertently received 15 mg intravenous tacrolimus instead of his scheduled 0.5 mg intravenous. Four hours later, a random tacrolimus level was 36.4 ng/mL. Tacrolimus was discontinued; phenytoin 200 mg BID was started for 4 doses and rifampin was started for 2 doses at 600 mg. Sixteen hours postinjection, tacrolimus level decreased to 26.4 ng/mL and to 9 ng/mL after 64 hours. Creatinine improved to 1.1 after 30 hours. He was extubated 5 days later without any new neurological findings and his creatinine returned to baseline. Our patient received 30 times his daily dose resulting high tacrolimus levels. Assuming there was sufficient time for distribution, our patient's half-life increased to 34.5 hours compared with the reported half-life of 12 hours. The possibilities for this increase include ineffective or harmful effects of the phenytoin/rifampin combination, change in metabolism kinetics at high levels, or other unidentified patient-specific factors. Further studies should be done to ensure that phenytoin and rifampin are safe to give in tacrolimus toxicity.
Complete Response After Pre-Operative Transcatheter Arterial Chemoembolization for Unresectable Primary Hepatic Neuroendocrine Tumour: A Case Report and Literature Review
Authors: Xinyuan Zhang, Huiru Yang, Yujing Xin, Yi Yang, Haizhen Lu, Xiang Zhou
Journal: Front Oncol (2022)
Keywords: case report, complete response, primary hepatic neuroendocrine tumor, transcatheter arterial chemoembolization, treatment
MeSH terms: Case Reports

Background:
Primary hepatic neuroendocrine tumours (PHNET) are extremely rare. Currently, no evidence-based guidelines are available for PHNET treatment, especially for unresectable tumours.
Case presentation:
We present the case of a 43-year-old man who was admitted to our hospital with complaints of backache for more than 1 month. The imaging examination showed a 5.5×5.3 cm lesion in the liver and no extrahepatic lesions, which was confirmed as a grade 2 PHNET by the pathological results and exclusion of non-hepatic origins. A multidisciplinary team (MDT) consultation revealed that the lesion was an unresectable primary hepatic neuroendocrine tumour (uPHNET) but could be potentially treated by conversion surgery. The patient was initially administered four cycles of chemotherapy with temozolomide, 5-fluorouracil, and ondansetron, and was evaluated as stable disease (SD) according to the Response Evaluation Criteria in Solid Tumours version 1.1 (RECIST 1.1). Because of the limited clinical benefit of chemotherapy, the patient subsequently underwent transcatheter arterial chemoembolisation (TACE) treatment, which reduced the tumour size and converted uPHNET to resectable tumours. A complete response (CR) was achieved after surgery, and the patient has been disease-free.
Conclusions:
This case was reported by a patient with uPHNET who benefited from the pre-operative TACE, providing a potentially effective management strategy for refractory tumours.