Anatoly Leytin

Aggressive osteogenic desmoplastic melanoma: a case report

A case of an osteogenic desmoplastic melanoma occurring on the sole of the foot of a 60‐year‐old African American man is described. The tumor measured 4.8 cm in greatest dimension, invaded to a thickness of 2.2 cm and metastasized to four of ten inguinal lymph nodes. The majority of the tumor had a classic desmoplastic phenotype with malignant spindle cells set in a sclerotic and myxoid matrix and foci of lymphocyte aggregation. In other areas, there were thick trabeculae of bone rimmed by malignant epithelioid melanocytes. There was a markedly atypical lentiginous hyperplasia in the overlying epidermis. Imaging showed no continuity with the underlying calcaneus. The tumor was characterized immunohistochemically by S100 positivity. Pathologists should be aware of this diagnosis and should differentiate it from osteosarcoma.

Low prevalence of the APC I1307K sequence in Jewish and non-Jewish patients with inflammatory bowel disease.

A germline sequence alteration at codon 1307 of the APC gene (I1307K) has been reported in 6 – 7% of the Ashkenazi Jewish population in the United States. This alteration is believed to predispose the APC gene to a secondary mutation at the same locus, resulting in an increased risk of colorectal carcinoma. There is an increased risk of colorectal carcinoma in patients with inflammatory bowel disease (IBD), a relatively large proportion of whom are Ashkenazi Jews. We therefore sought to determine whether the I1307K sequence variant occurred in the germline DNA of IBD patients. To our surprise, we found this sequence in only two of 267 patients with IBD (0.7%), occurring in only 1.5% of Jewish IBD patients. The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with gastric carcinoma (13 MSI-H and 44 MSI-negative), or ten patients with sporadic MSI-H colon cancer. These findings suggest that the I1307K sequence is relatively rare in the germline of Jewish as well as non-Jewish IBD patients. It does not appear to contribute to the increased colorectal cancer risk present in these patients.

Clinically Occult Primary Fallopian Tube Carcinoma Presenting as a Malignant Pleural Effusion.

We report the first known case of malignant pleural effusion (MPE) as the sole presenting feature of clinically occult primary fallopian tube carcinoma (PFTC). A 57‐year‐old healthy woman was admitted with dyspnea. Evaluation demonstrated a right pleural effusion, fluid of which was malignant. The immunohistochemical profile, including negative calretinin, favored metastatic adenocarcinoma over mesothelioma but could not identify the primary tumour site. Pleural biopsy was not pursued as it would not have helped localize the primary. Chest, abdomen and pelvic computed tomography (CT) demonstrated only borderline lymphadenopathy in the left para‐aortic lymph node chain that was hypermetabolic on positron emission tomography. Ultrasound and CT showed normal adnexal anatomy. These findings, coupled with an elevated serum CA‐125, prompted empiric neoadjuvant chemotherapy targeting epithelial ovarian carcinoma (EOC) followed by surgery, which revealed a tiny left PFTC with negative peritoneal washings. Sampled left para‐aortic lymph nodes were positive. The pleural effusion resolved after chemotherapy. Malignant pleural disease without peritoneal involvement is more characteristic of PFTC than of EOC, in which MPE is common but almost always accompanies peritoneal carcinomatosis. The extensive lymphatic supply of the fallopian tube promotes distant metastasis of small, seemingly localized tumours. This case is a reminder that the clinician should not be dissuaded from considering carcinoma of Müllerian origin, especially PFTC, as the cause of a MPE even in the face of normal gynecologic imaging. Appropriately broad immunohistochemical staining and careful attention to even minimal lymphadenopathy can be invaluable in pinpointing the primary tumour site in such patients.

Urinary Bladder Paraganglioma presenting as Micturition-Induced Palpitations, Dyspnea, and Angina

Patient: Female, 45 Final Diagnosis: Urinary bladder paraganglioma Symptoms: Angina pectoris • dyspnea • palpitations Medication: Phenoxybenzamine • Propanolol Clinical Procedure: Open partial cystectomy Specialty: Endocrinology and Metabolic Objective: Rare disease Background: Sympathetic urinary bladder paragangliomas are rare catecholamine-secreting neuroendocrine tumors arising from neural crest cells. They are uncommon urinary bladder neoplasms. Symptoms classically include micturition-related or unrelated palpitations and syncope with hypertension, headaches, diaphoresis, and hematuria. Other than being attributable to vasovagal reactions, micturition-induced cardiovascular symptoms should prompt a search for catecholamine-secreting tumors such as a urinary bladder paraganglioma, as in this case. Case Report: A 45-year-old asthmatic African-American female presented with episodic hematuria that began 4 years ago and episodes of micturition-induced palpitations, dyspnea, substernal tightness, sweating, and throbbing headaches. Computed tomography with contrast revealed an enhancing mass along the anterior urinary bladder wall, measuring 2.4×3.5 cm. On Positron emission Tomography with [18F] fluorodeoxyglucose integrated with computed tomography (18F-FDG PET/CT), the urinary bladder mass was 18F-FDG avid. Serum normetanephrine and supine plasma norepinephrine were significantly elevated and there was mild elevation of supine plasma epinephrine. Transurethral resection of the bladder mass revealed a neoplasm with microscopic features and immunohistochemical profile positive for synaptophysin and chromogranin, with negative screening cytokeratin AE1/AE3, suggesting a paraganglioma. Following resection of the paraganglioma, there was complete resolution of micturition-induced cardiovascular symptoms on long-term follow-up. Conclusions: Micturition-related cardiovascular symptoms are commonly attributed to vasovagal reactions. However, urinary bladder pathologies must be ruled out as a cause, as in this rare case of a urinary bladder paraganglioma exhibiting catecholaminergic symptoms.

Atypical presentation of an advanced obstructive biliary cancer without jaundice

Patient: Female, 60 Final Diagnosis: Cholangiocarcinoma Symptoms: Abdominal pain • abdominal discomfort Medication: — Clinical Procedure: — Specialty: Oncology Objective: Unusual natural history/clinical course Background: Cholangiocarcinoma remains to be a challenging case to diagnose and manage as it usually presents in advanced stage and survival rate remains dismal despite the medical breakthroughs. It is usually classified as intrahepatic, perihilar or distal tumor which can lead to bile duct obstruction causing sluggish flow of bile through the biliary tract and promoting increased absorption of bilirubin, bile acids and bile salts into systemic circulation accounting for the occurrence of jaundice, dark-colored urine and generalized pruritus. It usually becomes symptomatic when the tumor has significantly obstructed the biliary drainage causing painless jaundice and deranged liver function with cholestatic pattern. Jaundice occurs in 90% of the cases when the tumor has obstructed the biliary drainage system. A markedly dilated gallbladder as initial presenting feature in the absence of other typical obstructive clinical manifestations of an advanced stage of the cholangiocarcinoma is rare. Case Report: This case report presents an atypical case of an elderly woman who presented with advanced metastatic ductal cholangiocarcinoma with markedly dilated gallbladder and liver mass without other clinical manifestations and laboratory evidence of cholestatic jaundice. Conclusions: The mere presence of Courvoisier’s sign, even in the absence of other signs of biliary obstruction, could be suggestive of advanced neoplastic process along the biliary tract. Laboratory evidence of cholestasis might lag behind the clinical severity of the biliary obstruction in cholangiocarcinoma.

Novel complication of an emerging disease: Invasive Klebsiella pneumoniae liver abscess syndrome as a cause of acute respiratory distress syndrome

Klebsiella pneumoniae is an increasingly recognized cause of a unique invasive syndrome manifesting as pyogenic liver abscess and hematogenous extrahepatic dissemination to a variety of sites, including the lung. Originally described only in Asia, this entity has now been reported across continents and ethnicities. Intrathoracic complications of invasive Klebsiella pneumoniae liver abscess syndrome (IKPLAS) have been characterized sporadically but have not been the subject of an all-encompassing investigation. Review of the English-language literature yields no reports of the acute respiratory distress syndrome as a consequence of IKPLAS. Herein we report what, to our knowledge, is the first such description.