Immunohistochemical ALK Expression in Granular Cell Atypical Fibroxanthoma: A Diagnostic Pitfall for ALK-Rearranged Non-neural Granular Cell Tumor.

ABSTRACT: Atypical fibroxanthoma (AFX) is a neoplasm that most commonly occurs on sun-damaged skin of the head and neck in elderly patients and that usually exhibits indolent clinical behavior with complete excision. The granular cell variant of AFX demonstrates overlapping histopathologic features with dermal non-neural granular cell tumor (NNGCT), which typically arises on the extremities of young to middle aged adults with rare reports of regional metastasis. A subset of NNGCT harbors ALK rearrangements and expresses ALK by immunohistochemistry. Here, we present 2 cases of granular cell AFX occurring on the scalp of males aged 73 and 87 with ALK expression by immunohistochemistry and no evidence of an ALK rearrangement on fluorescence in situ hybridization, representing a diagnostic pitfall for NNGCT.

Primary Adrenal Angiosarcoma: A Rare and Potentially Misdiagnosed Tumor.

A man aged 69 years presented with acute right flank pain secondary to a hemorrhagic large adrenal tumor. En bloc resection was performed to repair the inferior vena cava. Immunoperoxidase levels in the tumor were positive for factor VIII and CD31 and negative for S100, protein Melan-A, CD34, synaptophysin, chromogranin, desmin, muscle specific actin, ETFA (EMA), KRT20 (CK20), CDX2, TTF1, LNPEP (PLAP), inhibin, ?-fetoprotein, CD30, hepatocyte paraffin, and aberrant expression of cytokeratin 7 and pankeratin. The pathological diagnosis was consistent with adrenal angiosarcoma. Obtaining appropriate immunoperoxidase stains and multidisciplinary evaluation helped make the diagnosis of this rare adrenal tumor and determine its management. The patient had an uneventful postoperative course and completed 4 cycles of adjuvant chemotherapy with doxorubicin/ifosfamide and adequately tolerated the treatment. However, positive surgical margins were found, so he was referred to radiation oncology specialists for possible adjuvant radiotherapy to the surgical bed. Weeks after the first initiation of therapy, the patient presented to the emergency department complaining of shortness of breath, fatigue, and generalized weakness for 3 days. He was admitted and found to have new-onset anemia and a new-onset, large, right pleural effusion. Thoracentesis performed showed sanguinolent fluid that, after microscopic evaluation, was suggestive of recurrent malignancy. Thoracic aortography performed with subselective catheterization to several arteries (right bronchial, right phrenic, and right renal arteries) did not show any active bleeding. However, the right inferior intercostal and adrenal arteries were presumed to be the reason for the bleeding event, so they were embolized until stasis. The patient remained hemodynamically unstable but eventually experienced multiorgan failure. In spite of aggressive measures, he died 10 days after admission to the hospital.

A Rare Case of Rectal Squamous Cell Carcinoma Treated with Nigro Protocol.

Squamous cell carcinoma (SCC) of the rectum is a rare malignancy, and the optimal treatment strategy remains unknown. Cases are limited in the literature, and although historically treated with surgical resection, more recent cases have suggested success with chemotherapy. Although Nigro protocol was initially developed for anal SCC, we present a case of rectal SCC successfully treated with the Nigro protocol. Our case supports the use of chemoradiotherapy as initial treatment for rectal SCC over surgery.

An Unusual Cause of Shortness of Breath: Primary Tracheal Basal Cell Adenocarcinoma.

A rare case of basal cell adenocarcinoma of the salivary gland tissue in the trachea can be difficult to differentiate from basal cell adenomacarcinoma.

Case Report: Unusual Manifestation of KIT Negative Systemic Mastocytosis.

Aggressive systemic mastocytosis is a rare hematologic neoplastic disease that presents with a poor prognosis and low survival rate. It typically manifests with symptoms associated to mast cell release of bioactive substances, causing anaphylaxis, flushing, autonomic and hemodynamic instability, gastric distress and headache. Moreover, more than 95% of cases are related to a mutation in codon 816 of the KIT gene, located on human chromosome 4q12 which codes for a type III receptor tyrosine kinase. We present a 78 year-old Hispanic man diagnosed with the aggressive subtype of systemic mastocytosis, who had an atypical manifestation and a KIT negative variant. The diagnosis was confirmed based on pathologic and serologic findings which included mast cell infiltration of the spleen and bone marrow, malignant ascites and an unusually elevated serum tryptase.

Endoscopic ultrasound guided fine-needle aspiration diagnosis of duodenal high grade neuroendocrine carcinoma underlying a villous adenoma: report of a case.

Endoscopic ultrasound guided fine-needle aspiration biopsy is a reliable and accurate method for the diagnosis of submucosal lesions of the gastrointestinal tract. We report the cytopathologic findings of a case of duodenal high-grade neuroendocrine carcinoma in a 68-year-old woman who presented with melena and marked anemia, 45 years after kidney transplantation. Imaging studies performed in the work-up of melena showed a duodenal mass, which on endoscopy proved to be an exophytic, villous duodenal lesion, 3 cm from the ampulla. Forceps biopsy of the exophytic lesion showed a villous adenoma. Endoscopic ultrasound additionally revealed an underlying submucosal lesion and EUS-guided fine needle aspiration of this submucosal mass and of the enlarged mesenteric lymph nodes was diagnostic of a high-grade neuroendocrine carcinoma. The aspirates showed abundant cellularity with tumor cells arranged in sheets and occasional loose clusters. The neoplastic cells had a moderate amount of pale cytoplasm and large round to oval hyperchromatic nuclei with focally prominent nucleoli. Mitoses, apoptotic bodies and necrotic debris were also present. The tumor cells were strongly and diffusely positive for cytokeratin AE1/AE3, synaptophysin and chromogranin and showed a very high proliferative fraction on Ki67 staining, supporting the diagnosis of a high-grade neuroendocrine carcinoma. This is to our knowledge the first case of high-grade neuroendocrine carcinoma of the duodenum diagnosed by EUS-FNA. This case also emphasizes the diagnostic value of EUS-FNA sampling of the submucosal and intramural component of villous tumors of the gastrointestinal tract when mucosal forceps biopsies show only benign findings.