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3.
J Clin Med ; 10(11)2021 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-34206061

RESUMEN

Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing and high-throughput coding microsatellite (cMS) analysis, in 28 incident and 67 prevalent LS CRCs (n total = 95). Incident cancers presented with lower UICC and T stage compared to prevalent cancers (p < 0.0005). The majority of incident cancers (21/28) were detected after previous colonoscopy without any pathological findings. On the molecular level, incident cancers presented with a significantly lower KRAS codon 12/13 (1/23, 4.3% vs. 11/21, 52%; p = 0.0005) and pathogenic TP53 mutation frequency (0/17, 0% vs. 7/21, 33.3%; p = 0.0108,) compared to prevalent cancers; 10/17 (58.8%) incident cancers harbored one or more truncating APC mutations, all showing mutational signatures of mismatch repair (MMR) deficiency. The proportion of MMR deficiency-related mutational events was significantly higher in incident compared to prevalent CRC (p = 0.018). In conclusion, our study identifies a set of features indicative of biological differences between incident and prevalent cancers in LS, which should further be monitored in prospective LS screening studies to guide towards optimized prevention protocols.

4.
Radiol Case Rep ; 16(9): 2624-2629, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34285733

RESUMEN

Perivascular epithelioid cell neoplasms (PEComa) constitute a rare, but increasingly recognized family of seemingly distinct mesenchymal tumors which can occur in any part of the body. Due to their rarity, radiological descriptions of PEComas in the current literature are few and non-specific, making diagnosis difficult, though some common imaging features have been reported. We present an unusual case of multifocal retroperitoneal and pelvic PEComas, mimicking liposarcoma, subsequently treated with open surgery.

5.
World J Gastrointest Surg ; 12(3): 123-128, 2020 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-32218895

RESUMEN

BACKGROUND: Isolated tuberculosis of the gallbladder is extremely rare due to its intrinsic resistance to tuberculous infections. There are reports of gallbladder tuberculosis mimicking cholecystitis or malignancy. However, these presentations were chronic. The diagnosis of gallbladder tuberculosis warrants the need for investigation of additional sites of inoculation and contact tracing of all tuberculosis contacts. Gallbladder tuberculosis is a rare entity but should be suspected in patients from endemic regions with risk factors such as underlying immunosuppression or history of tuberculosis. CASE SUMMARY: We present a case of gallbladder tuberculosis presenting as acute cholecystitis. A 44-year-old Filipino lady presented with a 11-d history of right hypochondrium and epigastric pain which worsened after meals with no significant past medical history. She underwent laparoscopic cholecystectomy on the presumptive diagnosis of acute cholecystitis and diagnosed as gallbladder tuberculosis after histopathological examination. The patient did not have features of pulmonary or systemic tuberculosis nor was she immunocompromised. She recovered uneventfully. She was subsequently discharged and followed-up at a hospital in her home country due to financial and social reasons. CONCLUSION: Clinicians should have a high index of suspicion for patients in endemic regions presenting with cholecystitis.

10.
Singapore Med J ; 55(11): 564-7; quiz 568, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25631965

RESUMEN

A 50-year-old Chinese man presented to the clinic with left hypochondrial pain, more than 10 kg of weight loss over a 3-month period, and a firm, large, ill-defined mass in the left upper quadrant. Contrast-enhanced computed tomography of the abdomen and pelvis revealed a well-circumscribed exophytic pancreatic mass with features suggestive of acinar cell carcinoma (ACC). The patient underwent chemotherapy and radiotherapy, with no evidence of local recurrence detected at one-year follow-up. He remains under close surveillance by his oncologist. Treatment for ACC includes surgical resection with adjuvant radiotherapy. Better overall survival is seen in patients with surgically resectable ACC as compared to those with the more common ductal cell carcinoma.


Asunto(s)
Carcinoma de Células Acinares/diagnóstico por imagen , Neoplasias Pancreáticas/diagnóstico por imagen , Carcinoma de Células Acinares/patología , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/patología , Tomografía Computarizada por Rayos X
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