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Significant Diagnostic Challenge (significant + diagnostic_challenge)
Selected AbstractsFine-needle aspiration biopsy of metastatic malignant melanoma resembling a malignant peripheral nerve sheath tumorDIAGNOSTIC CYTOPATHOLOGY, Issue 10 2008Svetoslav Bardarov M.D. Abstract We report a case of metastatic malignant melanoma resembling a malignant peripheral sheath tumor, which posed a significant diagnostic challenge. The patient is a 76-year-old male, who presented in the emergency room with bilateral chest pain exacerbated by inspiration. The pain was present for 3 week and was not exacerbated by physical exercise. The diagnostic workup revealed bilateral parenchymal pulmonary infiltrates. The CT-scan guided fine-needle aspiration and the core biopsies of the largest pulmonary lesion revealed high-grade spindle cell neoplasm with individual cell apoptosis and necrosis. The immunohistochemical profile on the cell block showed that the cells are positive for Vimentin. The S-100 stain showed only focal positivity. The immunohistochemical stains for HMB45, Melan A, pancytokeratin, and smooth muscle actin were negative. Five years ago the patient was diagnosed with melanoma on the back with Clark level of IV. The melanoma was excised with clear margins and sentinel lymph nodes were negative. Careful examination of patient's previous slides revealed an area of spindle cell melanoma adjacent to a nodular type melanoma. Based on the patient's previous history, current clinico-pathologic presentation and immunohistochemical profile, the diagnosis of metastatic malignant melanoma resembling peripheral nerve sheath tumor was favored over the diagnosis of metastatic malignant spindle cell neoplasm of unknown primary site, which by itself is very rare clinical scenario. Diagn. Cytopathol. 2008;36:754,757. © 2008 Wiley-Liss, Inc. [source] Value of p63 and podoplanin (D2-40) immunoreactivity in the distinction between primary cutaneous tumors and adenocarcinomas metastatic to the skin: a clinicopathologic and immunohistochemical study of 79 casesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 4 2010Jose A. Plaza The distinction of metastatic carcinomas to the skin from poorly differentiated primary cutaneous carcinomas and sometimes primary benign adnexal tumors can pose a significant diagnostic challenge. The purpose of this study was to evaluate the role of p63 and podoplanin (D2-40) immunoreactivity for separating primary skin tumors vs. cutaneous metastases of carcinomas from internal organs. Thirty seven primary tumors and 42 cutaneous metastatic adenocarcinomas were evaluated. The 37 primary cutaneous tumors included 14 cases of benign adnexal tumors, 9 malignant skin adnexal neoplasms, and 14 primary squamous and basal cell carcinomas. The 42 metastatic adenocarcinomas all corresponded to metastases from patients with a well-documented history of a primary tumor at another location. We found variable positivity with podoplanin in all primary cutaneous neoplasms including spiradenoma (6/6), hidradenoma (2/4), cylindroma (3/3), desmoplastic trichilemmoma (1/1), poorly differentiated squamous cell carcinoma (4/4), sebaceous carcinoma (1/1), basal cell carcinoma (4/10), trichilemmal carcinoma (2/2), eccrine carcinoma (3/3), microcystic adnexal carcinoma (1/1), adnexal carcinoma NOS (1/1), and porocarcinoma (1/1). In contrast, all metastatic carcinomas were negative (0/42) for podoplanin. In regards to p63, all cases of primary cutaneous tumors were positive for p63 (37/37); in contrast, all cutaneous metastatic carcinomas were negative (0/42). Sensitivity, specificity, and positive and negative predictive values of podoplanin and p63 immunoreactivity to separate primary skin neoplasms from metastatic carcinomas were 78.4, 100.0, 100.0 and 84.0% for podoplanin, respectively, and 100.0, 100.0, 100.0 and 100.0% for p63, respectively. The differences in p63 and podoplanin immunohistochemical expression between primary skin tumors and metastatic carcinomas to the skin were statistically significant (p < 0, 0001). The results of our study suggest that the combined expression of p63 and podoplanin are a useful adjunct for the diagnosis of skin tumors in the clinical setting of a questionable metastasis and may be relatively specific for distinguishing primary skin tumors from metastatic carcinomas to the skin. Plaza JA, Ortega PF, Stockman DL, Suster S. Value of p63 and podoplanin (D2-40) immunoreactivity in the distinction between primary cutaneous tumors and adenocarcinomas metastatic to the skin: a clinicopathologic and immunohistochemical study of 79 cases. [source] Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutationMUSCLE AND NERVE, Issue 3 2009Oleg Shchelochkov MD Abstract Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of metabolism characterized by impaired mitochondrial ,-oxidation of fatty acids with a chain length between 14 and 18 carbons. While expansion of newborn screening has improved our ability to detect VLCAD deficiency in early childhood, the late-onset form of the disease still presents a significant diagnostic challenge. We report a 20-year-old female with VLCAD deficiency who first presented in infancy with hypoketotic hypoglycemia. In childhood the patient developed complex partial seizures that were aggravated by Lamotrigine treatment. The clinical course in early adulthood was complicated by recurrent, often unprovoked, episodes of rhabdomyolysis and myoglobinuria. In addition, she suffered from chronic myalgia, muscle weakness, and diffuse abdominal tenderness. A muscle biopsy revealed accumulation of fat droplets. Her acylcarnitine profile showed significantly elevated C14, C14:1, C16, and C18-carnitines. Sequence analysis of ACADVL revealed a heterozygous recurrent mutation c.848T>C (p.V283A) and a heterozygous novel splice mutation c.879-8T>A that results in the inclusion of six nucleotides from intron 9 into the transcript sequence. The molecular characterization of this novel mutation and its correlation with the clinical phenotype are discussed. Muscle Nerve 39: 374,382, 2009 [source] Idiopathic colitis following cardiac transplantation: Three pediatric casesPEDIATRIC TRANSPLANTATION, Issue 6 2003Ghassan Wahbeh Abstract:, Colitis can cause significant morbidity in pediatric solid organ transplant recipients. In many cases, despite intensive evaluation, a specific infectious, inflammatory, or immunologic etiology is not identified, and idiopathic colitis may be the ultimate diagnosis. We defined idiopathic colitis as the presence of gastrointestinal symptoms (vomiting, diarrhea, abdominal pain) with inflammatory changes seen on intestinal biopsy in the absence of identifiable bowel disease. We describe three cases of idiopathic colitis following cardiac transplantation. In each case, the post-transplant course was complicated by persistent abdominal pain, diarrhea, and in two cases, vomiting. All three patients' post-transplant courses were marked by multiple graft rejection episodes, and all received intensified immune therapy in addition to usual maintenance immunosuppression. Differential diagnosis of the patients' gastrointestinal symptoms included drug side effect, indolent opportunistic infections, inflammatory bowel disease, post-transplant lymphoproliferative disease, and microvascular ischemic colitis. Continued symptoms led these patients to extensive evaluation including imaging studies, endoscopy and tissue biopsy, and stool, blood and tissue cultures for viral, bacterial and parasitic pathogens. Definitive differentiation presented significant diagnostic challenge, and once identifiable etiologies were excluded, the diagnosis of idiopathic colitis was assigned. We conclude that idiopathic colitis following pediatric cardiac transplantation can be a cause of significant morbidity. Endoscopic evaluation of patients who present with gastrointestinal symptoms after transplant is warranted to identify the presence of idiopathic colitis once common causes are ruled out. Further study is needed to identify its incidence, etiology, therapeutic options and prognosis. [source] | ||||||||||