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1.
J Surg Case Rep ; 2024(2): rjae045, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38370590

RESUMEN

Uterine torsion is a rare condition. Even more so in cases of non-gravid torsion. We present the case of a post-menopausal woman in her 70s who arrived to our emergency department acutely unwell with abdominal pain and vomiting on a background of a large leiomyomatous uterus, complicated by aspiration pneumonia, acute anaemia, and acute kidney injury. Computed tomography demonstrated a small bowel obstruction secondary to a large heterogeneous calcified pelvic mass. Laparotomy performed demonstrated a large leimyomatous uterus that had torted on the cervical pedicle associated with perforation of the lower anterior segment. A short segment of healthy jejunum was adhered to the uterine fundus, which was easily mobilized. Total hysterectomy and bilateral oophorectomy was performed. The patient made a full recovery. Histopathology demonstrated a calcified leiomyomatous uterus with adjacent haemorrhagic infarction of the uterine wall.

2.
Surg Case Rep ; 9(1): 77, 2023 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-37171715

RESUMEN

BACKGROUND: Primary pancreatic squamous cell carcinoma (SCC) is a rare type of pancreatic cancer, with an incidence of 5% of all pancreatic cancers. This condition is associated with a poor prognosis, and no optimal treatment has been established (Zhang et al. in Medicine (Baltim). 97:e12253, 2018). CASE PRESENTATION: A 56-year-old man presented to our hospital with upper gastrointestinal bleeding and new-onset diabetes mellitus. He had no other medical comorbidities, episodes of pancreatitis and symptoms secondary to pancreatic insufficiency. A computed tomography (CT) scan showed a 94 × 72 × 83 mm necrotic pancreatic body mass with gastric invasion and multiple liver metastases. Gastroscopy revealed deep ulcerations at the posterior wall of the stomach with an active slow ooze. Endoscopic ultrasound was performed with EUS guided biopsy, which confirmed poorly differentiated squamous carcinoma of the pancreas. The patient underwent palliative radiotherapy for recurrent upper gastrointestinal bleeding followed by palliative chemotherapy with gemcitabine and nab-paclitaxel. He was referred to dietitians and diabetes educators for the management of pancreatic exocrine and endocrine insufficiency before being referred to community palliative care upon discharge. CONCLUSIONS: This is the first reported Australian case of pancreatic SCC presenting with upper gastrointestinal bleeding and new-onset diabetes mellitus. Patients with unresectable disease require a multidisciplinary approach to manage complications and improve symptom control. However, there are no standard treatment guidelines and future research is needed in this regard.

5.
JAMA Dermatol ; 157(7): 836-841, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-34076666

RESUMEN

IMPORTANCE: Spitz nevi are benign melanocytic neoplasms that classically present in childhood. Isolated Spitz nevi have been associated with oncogenic gene fusions in approximately 50% of cases. The rare agminated variant of Spitz nevi, thought to arise from cutaneous genetic mosaicism, is characterized by development of clusters of multiple lesions in a segmental distribution, which can complicate surgical removal. Somatic single-nucleotide variants in the HRAS oncogene have been described in agminated Spitz nevi, most of which were associated with an underlying nevus spilus. The use of targeted medical therapy for agminated Spitz nevi is not well understood. OBSERVATIONS: A girl aged 30 months presented with facial agminated Spitz nevi that recurred rapidly and extensively after surgery. Owing to the morbidity of further surgery, referral was made to a molecular tumor board. The patient's archival nevus tissue was submitted for extended immunohistochemical analysis and genetic sequencing. Strong ROS1 protein expression was identified by immunohistochemistry. Consistent with this, analysis of whole-genome sequencing data revealed GOPC-ROS1 fusions. These results indicated likely benefit from the oral tyrosine kinase inhibitor crizotinib, which was administered at a dosage of 280 mg/m2 twice daily. An excellent response was observed in all lesions within 5 weeks, with complete flattening after 20 weeks. CONCLUSIONS AND RELEVANCE: Given the response following crizotinib treatment observed in this case, the kinase fusion was believed to be functionally consequential in the patient's agminated Spitz nevi and likely the driver mutational event for growth of her nevi. The repurposing of crizotinib for GOPC-ROS1 Spitz nevi defines a new treatment option for these lesions, particularly in cases for which surgery is relatively contraindicated.


Asunto(s)
Crizotinib , Nevo de Células Epitelioides y Fusiformes , Neoplasias Cutáneas , Proteínas Adaptadoras Transductoras de Señales , Preescolar , Crizotinib/uso terapéutico , Femenino , Proteínas de la Matriz de Golgi , Humanos , Recurrencia Local de Neoplasia , Nevo de Células Epitelioides y Fusiformes/diagnóstico , Nevo de Células Epitelioides y Fusiformes/tratamiento farmacológico , Nevo de Células Epitelioides y Fusiformes/genética , Proteínas Tirosina Quinasas , Proteínas Proto-Oncogénicas/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/genética
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