Rana Naous

Utility of Immunohistochemistry and ETV6 (12p13) Gene Rearrangement in Identifying Secretory Carcinoma of Salivary Gland among Previously Diagnosed Cases of Acinic Cell Carcinoma

Objective. Secretory carcinoma is a recently described entity with characteristic immunoprofile and ETV6 (12p13) rearrangement. Before its initial description, it was generally diagnosed as acinic cell carcinoma (ACCi). We evaluated immunoprofile and ETV6 rearrangement in cytological and surgical cases of previously diagnosed ACCi, in an attempt to identify any misclassified SC. Methods. Fifteen cytology and surgical cases of ACCi diagnosed over a 13-year period were retrieved and subjected to immunohistochemistry for S-100, mammaglobin, GATA-3 and DOG-1 as well as FISH for ETV6 (12p13). Results. Of the 8 cytology cases, only 1 was positive for S100, GATA-3, and mammaglobin, and negative for DOG-1. It also demonstrated ETV6 rearrangement and was reclassified as SC. The same immunoprofile was present in 2 of the 13 surgical cases. ETV6 rearrangement characterized by 3′ interstitial deletion was detected in one of these cases and was reclassified as SC. Immunohistochemistry and ETV6 rearrangement were useful in identifying 2 (13.3%) cases misclassified as ACCi. Conclusions. Characteristic immunoprofile and ETV6 gene rearrangement may prove useful in identifying cases of SC. The presence of ETV6 3′ interstitial deletion in one of our cases suggests that there may be additional ETV6 related genetic alterations contributing to the pathogenesis of SC.

Crizotinib induces apoptosis and gene expression changes in ALK+ anaplastic large cell lymphoma cell lines; brentuximab synergizes and doxorubicin antagonizes

Anaplastic lymphoma kinase (ALK)‐positive anaplastic large cell lymphoma (ALCL) shows 60–70% event free survival with standard treatments. Targeted therapies are being tested for increased benefit and/or reduced toxicity, but interactions with standard agents are not well known.

Poorly differentiated signet ring cell carcinoma of pancreas masquerading as chronic pancreatitis

Abstract Pancreatic cancer is typically arises in the context of inflammation, and a surrounding area of pancreatitis is often present within the tumor microenvironment. Signet ring cell carcinoma (SRCC) is a rare variant of pancreatic adenocarcinoma. Pathologically, it presents either as single cells or loose clusters masquerading in the background of pancreatitis. Sampling of these inflammatory cells during biopsy can result in the incorrect diagnosis of pancreatitis. We report a case of SRCC of the pancreas which the diagnosis of cancer was delayed because multiple biopsies revealed only inflammatory changes with no obvious evidence of malignancy. This case highlights the fact that negative results with endoscopic ultrasound fine needle aspiration in SRCC can be misleading. A cancer diagnosis should still be considered despite findings of inflammatory pancreatitis if the clinical presentation is concerning for cancer (mass on CT scan).

Primary peritoneal Epithelioid mesothelioma of clear cell type with a novel VHL gene mutation: a case report

Clear cell variant of epithelioid mesothelioma is an extremely rare tumor with only isolated cases reported so far in the peritoneum. Here, we report a case of peritoneal epithelioid mesothelioma, clear cell variant, in a 63-year-old female patient with a novel VHL gene mutation and an unusual indolent clinical course. The patient, who has no clinical history of asbestos exposure, presented with a 27.2-cm upper abdominal mass and a 5.5-cm liver lesion. Retrospective review of the patients abdominal computed tomographic scan 4 years ago showed 2 small abdominal lesions that were felt clinically to represent hemangiomas. These were retrospectively considered to have grown in size and represented the current abdominal mass. Both masses were subsequently biopsied and showed a proliferation of monomorphic epithelioid cells with distinct cell membranes, fine chromatin, and clear to finely vacuolated pale eosinophilic cytoplasm arranged in nests and solid sheets. Immunohistochemical staining confirmed it to be malignant mesothelioma. Clear cell variant of peritoneal epithelioid mesothelioma should always be considered in patients with an abdominal or pelvic mass with clear cell features. Given the rarity of such entity, its clinical course and prognosis remains unclear.

Nonoperative Management May Be a Viable Approach to Plexiform Neurofibroma of the Porta Hepatis in Patients with Neurofibromatosis-1

Background Plexiform neurofibroma (PNF) in the porta hepatis (PH) is an unusual manifestation of neurofibromatosis-1 (NF-1). Resection is often recommended given the risk of malignant transformation. We encountered a challenging case in clinical practice which prompted us to report our findings and perform a systematic review on the management of these tumors. Methods We reported the case of a 31-year-old woman with NF-1 and PNF of the PH. PRISMA 2009 guidelines were followed for systematic review. Results Our patient was found to have unresectable disease at exploration. After >5 years of follow-up, she continued to have stable disease on imaging. We identified 12 studies/case reports including 10 adult and 6 pediatric patients with PNF of PH. None of the 7 adult patients with NF-1 and PNF of PH underwent a successful tumor resection. All pediatric patients were managed with surveillance alone. All but one pediatric patient had NF-1. None of the reported cases of PNF of PH had malignant transformation. Conclusion Our findings suggest that PNFs of PH in the setting of NF-1 are often unresectable and may have an indolent course. Surveillance alone may be a reasonable option in some patients; however, further studies are needed.

Nasal Chondromesenchymal Hamartoma: Rare Case Report in an Elderly Patient and Brief Review of Literature

Hamartomas are considered a mixture of nonneoplastic tissue, which may be indigenous to a different location in the body. As such, they may be epithelial, mesenchymal, or mixed. In the sinonasal region, the following hamartomatous lesions are considered to lie on a spectrum and include respiratory epithelial adenomatoid hamartoma (REAH), chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH), and nasal chondromesenchymal hamartoma (NCMH). To our knowledge, less than 50 cases of sinonasal hamartomas have been reported in the English literature so far with NCMH being very rare and primarily a tumor in infancy, with only 2 cases reported in individuals older than 16 years of age. We report a highly unusual case of a NCMH in the right maxillary sinus of a 70-year-old female.

TLE1 Positive Clear Cell Sarcoma of the Kidney: A Case Report and Review of the Literature

Clear cell sarcoma of the kidney (CCSK) is an uncommon malignant tumor of uncertain histogenesis that occurs most commonly in childhood. Histologically, CCSK can mimic myxoid variant of synovial sarcoma (SS); however, the double positivity for CD99 and TLE1 in SS helps in excluding CCSK. Herein, we report a rare case of CCSK arising in the left kidney of a 3-year-old girl. The mass grossly measured 9.5 cm in maximum dimension and histologically showed the classic arborizing fibrovascular septae and background myxoid matrix that is usually seen in CCSK. The tumor however was double positive for CD99 and TLE1 which made it difficult to discriminate it from the myxoid variant of SS based on histopathological examination and immunophenotype alone, and genetic analysis for SYT gene rearrangement was required to reach a definitive diagnosis. Although there have been previous case reports of CCSK with positive expression of CD99 and negative TLE1, to our knowledge, this is the first case of CCSK expressing both CD99 and TLE1.

A Rare Case of Clear Cell Carcinoma, Müllerian Type in the Renal Pelvis of a 21-Year-Old Woman

Clear Cell Carcinomas of Müllerian origin are extremely rare within the upper urinary system. Their morphology is identical to that of the Clear Cell Carcinomas of the female genital tract. When they arise in the urinary tract, it is thought to be due to ectopic Müllerian embryogenesis. Here, we present a case of a 21-year-old woman with a Clear Cell Carcinoma, Müllerian type, arising from the renal pelvis. Histologically, it consisted of tubulopapillary architecture with associated foamy macrophages and a mucinous background. The neoplastic cells exhibited variably sized round nuclei with prominent nucleoli, eosinophilic to vacuolated cytoplasm with occasional intracytoplasmic mucin vacuoles, and a hobnail appearance. Immunohistochemical stains showed that the neoplastic cells were positive for Pax-8, p53, CK7, HMWK 903, and INI-1 and focally positive for p504s (AMACR). The neoplastic cells were negative for GATA-3, CK5/CK6, p63, CK20, and CDX-2 immunostains, ruling out urothelial or enteric phenotype. Additional immunostains performed by an outside institution showed that the neoplastic cells were positive for HNF-1β. The overall morphology and immunophenotype were consistent with Clear Cell Carcinoma of Müllerian origin arising from the renal pelvis. Follow-up revealed no metastasis or other tumor sites, supporting that this was the primary location.

High-grade malignant pancreatic neoplasm with sarcomatoid features

Sarcomatoid carcinoma is a rare and aggressive form that occur at diverse locations in the body such as upper respiratory tract, upper and lower digestive tracts, genitourinary tract, breast and thyroid glands. However, its occurrence in pancreas has been rarely reported. Sarcomatoid carcinoma of pancreas (SCP) is a high-grade epithelial malignancy composed predominantly of spindle cells often having features suggestive of epithelial derivation without features indicative of a specific line of mesenchymal differentiation. Its pathogenesis has not been elucidated. Microscopically, SCP comprises mostly anaplastic cells and is strikingly sarcoma-like in appearance. Confirmation of this disease is often based on the pathological diagnosis. We report a case that was incidentally found after a CT was done for worsening chronic back pain and the patient was found to have a pancreatic mass and a liver lesion. Endoscopic ultrasound (EUS)-guided liver biopsy revealed high grade malignant pancreatic neoplasm with sarcomatoid features. Further CT chest revealed bilateral lung nodules and PET scan revealed prominent bony metastases within vertebral bodies at L1, L2, and L3. The patient refused definitive treatment and succumbed to illness within 3 months.

A novel three‑way Philadelphia Variant t(9;22;17)(q34;q11.2;q12) in chronic myeloid leukemia: A case report

Chronic myeloid leukemia (CML) is a hematologic malignancy associated with increased circulating myeloid cells and platelets in the peripheral blood, with accompanying bone marrow hyperplasia. The Philadelphia chromosome, t(9;22)(q34;q11), is present in 95% of CML patients, resulting in constitutive tyrosine kinase activity; however, ~5% of CML patients possess a Philadelphia variant. A novel three-way Philadelphia translocation variant, t(9;22;17)(q34;q11.2;q11.2), was identified in a 54-year old man who presented with leukocytosis, anemia and thrombocytosis that was diagnosed with chronic myeloid leukemia, chronic phase. Cytogenetic analysis by G-banding revealed the presence of a three-way translocation involving the long arms of chromosomes 9, 22 and 17. Fluorescence is situ hybridization utilizing a dual-color fusion probe confirmed the presence of the Bcr-Abl fusion gene.