1/12. BRCA1 germline mutation presenting as an adenocarcinoma of unknown primary.BACKGROUND: The work-up of adenocarcinoma of unknown primary usually includes history, physical examination, radiographic imaging, tumor markers, and more recently molecular and genetic information. We report here on how the suggestion by family history of a BRCA1 mutation guided the diagnostic and therapeutic approach in a patient with metastatic carcinoma of unknown primary. methods: BRCA1 mutation was screened for by polymerase chain reaction (PCR) and single-strand conformational polymorphism analysis. Primers for PCR amplification included selected BRCA1 exons 2, 110, 11L, 13, and 20. The PCR product was cloned into a PCRII vector and sequenced with a Sequenase Version 2.0 Sequencing Kit. RESULTS: Single-strand conformational polymorphism analysis suggested a mutation in the region of exon 20 and sequencing confirmed the presence of a germline mutation 5382insC. CONCLUSIONS: This case illustrates an unusual presentation of adenocarcinoma of unknown primary in a patient with a germline BRCA1 mutation, the use of a suspected germline mutation to guide the work-up and treatment, and finally the value of positron emission tomography scanning in the work-up of an unknown primary.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/12. Axillary metastasis as first symptom of occult breast cancer: a case report.Axillary lymph node metastasis from an occult breast carcinoma is a rare occurrence. We report this condition in a 59-year-old woman who presented with a swelling in the right axilla. No breast mass was clinically evident. mammography, ultrasonography and multiple random fine-needle breast biopsies yielded no pathological findings. No extramammary primary lesions were present. Axillary sampling was performed and histological examination revealed the presence of metastatic adenocarcinoma in three of the 12 dissected lymph nodes. Estrogen receptors were positive and immunohistochemistry pointed to a breast origin. All these data were suggestive of occult breast cancer. The patient refused any further treatment but accepted clinical and radiological follow-up. Eight years later mammography revealed in the same breast a 10-mm nodule containing microcalcifications, which was not evident at physical examination. The patient underwent a lumpectomy. Intraoperative histology was positive for breast carcinoma and complete axillary clearance was performed. Histological examination revealed a lobular invasive breast carcinoma and the presence of micrometastasis in one of the 23 removed lymph nodes. The patient was given radiotherapy to the breast and axilla and tamoxifen. At present, one year after the appearance of the primary tumor, she is free of disease. Based on this case report we suggest an eclectic approach in the management of patients with axillary metastasis from occult breast cancer, depending on the clinical, pathological and biological findings.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
3/12. breast MR imaging in a patient with unilateral axillary lymphadenopathy and unknown primary malignancy.Bilateral invasive breast cancers were detected on MR imaging in a patient with left unilateral axillary lymphadenopathy and normal findings at physical examination, mammography, and ultrasound of both breasts. One spiculated and a second ill-defined enhancing lesion in the left breast as well as a superficial circumscribed lesion in the right breast were proven to be invasive malignancies. In patients with isolated axillary lymph nodes and occult primary malignancy, breast MRI can identify or exclude the breast as primary site, which proves the superiority and diagnostic benefit of this imaging method and also its contribution to the therapeutic approach.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
4/12. Acrokeratosis paraneoplastica (Bazex syndrome): an atypical presentation.A 62-year-old male presented with a 2-year history of hyperkeratotic lesions of the hands and feet. Previous treatment with topical steroids was unsuccessful. A complete physical examination revealed the presence of blood in the stool, and sigmoidoscopy showed an ulcerative growth at the rectosigmoid junction. The histopathology showed adenocarcinoma.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
5/12. Multiple bilateral choroidal metastatic tumors from a small-cell neuroendocrine carcinoma of unknown primary site.PURPOSE: To report one case of multiple and bilateral choroidal tumors from a poorly differentiated small cell neuroendocrine carcinoma of unknown primary. methods: The case of a 30-years-old white female who developed multiple and bilateral choroidal tumors from a poorly differentiated small cell neuroendocrine carcinoma of unknown primary is presented. RESULTS: The patient had a disseminated disease and died 6 months after. The oncologic work-up, including physical examination, laboratory and radiographic study, fails to identify the primary site. CONCLUSIONS: Intraocular involvement from a poorly differentiated small cell neuroendocrine carcinoma of unknown primary has not yet reported. We describe this case together with a review of the literature.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
6/12. Bilateral axillary metastases of occult breast carcinoma: report of a case with a review of the literature.The case of a 47-year-old premenopausal woman is presented in whom axillary lymph node metastases occurred on both sides 3 years apart although no primary tumor was detectable in either breast is presented. An overview of the literature on this rare entity is given. patients with occult breast carcinoma with axillary lymph node metastases should have a complete physical examination, radiologic analysis (mammography, ultrasonography, and MRI of both breasts) and screening for disseminated disease. If there is no evidence of a primary tumor and metastases other than in the axilla, an axillary dissection should be carried out. In addition, the patient should be offered the choice of irradiation of the breast or mastectomy. Postoperatively, patients should receive appropriate systemic therapy tailored to their age, menopausal status, and receptor status.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
7/12. Trousseau syndrome and the unknown cancer: use of positron emission tomographic imaging in a patient with a paraneoplastic syndrome.Trousseau syndrome is defined as a migratory thrombophlebitis found typically in patients with an underlying malignancy. Conventional diagnostic testing and imaging can be used to successfully diagnose a primary malignancy in approximately 85% to 95% of patients. However, along with a comprehensive medical history and physical examination, numerous tests are frequently required, including blood tests, tumor markers, chest radiography, upper endoscopy, and computed tomography of the chest, abdomen, and pelvis. We present a case in which positron emission tomographic imaging was important for diagnosing the malignancy underlying Trousseau syndrome. Positron emission tomography may play an important role in the efficient evaluation of such cases.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
8/12. The role of positron emission tomography (PET) in the management of cervical lymph nodes metastases from an unknown primary tumour.Cervical lymph node metastases may be the initial manifestation of occult cancer. Despite a very exhaustive search, the primary site of approximately 2-10% of these tumours remain undetected. Evaluation of the patient includes: detailed physical examination of skin, upper airways (fiberoptic endoscopy), salivary glands and thyroid; fine-needle biopsy, multiple endoscopic biopsies, and imaging studies (ultrasonography, computed tomography scan or magnetic resonance imaging). Recently, positron emission tomography scan has been demonstrated to be a useful diagnostic imaging study in these patients. The records of 11 patients were reviewed. End-points were the usefulness of positron emission tomography in the detection of an unknown primary tumour and/or distant metastatic disease. In 5 patients, positron emission tomography detected a primary lesion, confirmed pathologically and revealed distant metastases in 2 patients. Two cases were false-positive and 1 false-negative. In 3 patients no primary tumour was found after 3 years follow-up. In conclusion, positron emission tomography was not of any significant advantage in detecting occult primary tumour vs. computed tomography scan or magnetic resonance imaging. Positron emission tomography, as "ab initio" total body examination, is important in detection of unsuspected distant diseases.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
9/12. Disseminated prostatic carcinoma simulating primary lung cancer. Indications for immunodiagnostic studies.Recognition of disseminated adenocarcinomas potentially responsive to current treatment programs is an important objective in the management of cancer patients. Metastatic adenocarcinoma of the prostate gland is a malignant entity which often can be palliated effectively by hormonally based therapeutic strategies. In cases of metastatic prostate cancer presenting with typical clinical features, the correct diagnosis can be readily achieved, but in patients with less obvious presentations the diagnosis of prostatic carcinoma may be overlooked. In the current report, a group of elderly men presenting with a clinical syndrome resembling either metastatic primary adenocarcinoma of the lung or primary adenocarcinoma of the lung coexisting with prostate cancer were found in fact to have metastatic prostatic carcinoma as their sole disease process. In each case, cytologic characterization of clinically involved tissue specimens by the prostate specific antigen and prostatic acid phosphatase immunohistochemical markers enabled clinical investigators to arrive at the correct diagnosis. Other clinical features, such as a positive bone scan and an enlarged prostate gland on physical exam and/or radiographic studies were noted to be present in these patients. All the patients in the current series responded to hormonal treatment regimens once the diagnosis of metastatic prostate cancer had been established. In elderly male patients presenting with what appears to be primary adenocarcinoma of the lung, the diagnosis of metastatic prostate cancer should be considered and when necessary evaluated by the use of appropriate clinical and immunohistochemical studies.- - - - - - - - - - ranking = 0.058279700900777keywords = physical (Clic here for more details about this article) |
10/12. Anterior hip pain in the adult: an algorithmic approach to diagnosis.The adult patient who complains of anterior hip pain is a dilemma frequently encountered by the primary care physician. Detailed history taking, physical examination, and plain x-ray films are indicated for the initial evaluation. Anterior hip pain is often diagnosed as musculoskeletal strain/sprain and treated with a conservative regimen represented by the acronym NICER (nonsteroidal anti-inflammatory drugs, ice, compression, elevation, and rest) with or without physical therapy. On occasion, this therapy fails to eradicate the symptoms. When these symptoms are refractory to diagnosis by conventional means, a more comprehensive evaluation of the etiology is warranted. Refractory pain is defined in the authors' practice as pain that persists after 4 weeks of initial conservative management. This subsequent evaluation includes the use of such laboratory tests as complete blood cell count with differential count, Chem 20 health profile, erythrocyte sedimentation rate, and an arthritic panel (assessment of rheumatoid factor, antinuclear antibody, c-reactive protein). Ancillary radiologic tests warranted include a nuclear bone scan, a magnetic resonance imaging scan, a computed tomography arthrogram with hip aspiration, and/or a scan of white blood cells labeled with indium 111. The test chosen depends on the etiology most suspected. A useful diagnostic algorithm for the investigation of anterior hip pain in the adult is provided. An illustrative case presentation of carcinoma of an unknown primary site presenting as anterior hip pain demonstrates the algorithm as it applies in the authors' practice.- - - - - - - - - - ranking = 1.0582797009008keywords = physical examination, physical (Clic here for more details about this article) |
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