Granular Cell Tumor Within an Ovarian Mature Cystic Teratoma: Report of a Unique Case and Review of the Literature.

Granular cell tumors involving the female reproductive tract are rare, with only a small number of cases described. Of the reported cases, none are documented within an ovarian mature cystic teratoma (MCT). This report documents a case of a granular cell tumor, incidentally discovered within an ovarian MCT in a 50-yr-old woman undergoing a supracervical hysterectomy and left salpingo-oophorectomy. Although malignant transformation and other secondary ovarian neoplasms in MCT have been well documented, synchronous nonovarian benign neoplasms are reported much less frequently. The histogenesis of secondary tumors arising in MCT is incompletely understood, and the current case provides additional insight, especially pertaining to schwannian and neuroectodermal tumors arising in this setting. The current case, to the best of our knowledge, represents the first report of a granular cell tumor involving a mature teratoma of any site, with the diagnosis being supported by morphologic and immunohistochemical staining characteristics.

Unique presentation of blastic plasmacytoid dendritic cell neoplasm: a single-center experience and literature review.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and highly aggressive hematological malignancy derived from precursors of plasmacytoid dendritic cells. Very few cases of BPDCN have been described with lack of skin manifestations at the time of diagnosis. Here we report two rare non-cutaneous presentations of BPDCN without obvious skin lesions at our institution and also the literature review. Our first patient had a unique presentation of BPDCN confined to the sinonasal region with central nervous system involvement. The second patient we report is also atypical with regard to widespread disease that uncharacteristically spared the skin and bone marrow. BPDCN is a rare hematological malignancy involving immature plasmacytoid dendritic cells. It poses a diagnostic challenge requiring multidisciplinary approach to manage this disease. It is important to identify effective therapies for both cutaneous and non-cutaneous presentations of BPDCN, since most cases are uniformly fatal with conventional chemotherapy alone. High-dose induction therapy based on acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL) regimens, to achieve complete remission followed by allo-hematopoietic stem cell transplantation from related or unrelated donors is recommended to improve long-term survival in these patients. Larger scale studies are warranted to understand the pathophysiology of the disease and the important prognostic indicators for optimal management.

Zinc-induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess.

Hypocupremia due to zinc products can cause sideroblastic anemia and neutropenia and mimics other serious hematological disorders. Early consideration of the copper deficiency and a thorough clinical history can prevent unnecessary interventions.

Secondary Malignancies of the Bladder: Avoiding the Diagnostic Pitfall.

Although rare, secondary tumors of the bladder can present a diagnostic dilemma to pathologists considering a differential diagnosis of primary bladder cancer. We investigated the clinicopathologic and imaging characteristics of metastatic tumors to the bladder. We retrospectively reviewed the surgical pathology databases from 2 sites from 2013 to 2016, identifying 66 cases of secondary bladder tumors. Clinical, pathologic, and imaging findings were reviewed. Mean age at diagnosis was 63 years (range = 25-87). Females had a significantly higher proportion (44/66, 66.7%) of secondary bladder tumors compared with males (22/66, 33.3%; P = .007). In total, 56/66 (84.8%) patients had a clinical history of an in situ or invasive malignancy in another organ, and 54/66 (81.8%) patients had imaging supporting a metastatic tumor. Only 2/66 (3.0%) patients had a prior history of urothelial carcinoma. In total, 4/66 (6.1%) cases (all females) were originally misdiagnosed as primary bladder malignancies and were corrected after clinicoradiologic correlation. Overall, colorectal origin was most common (15/66, 22.7%), followed by cervical and ovarian primaries (10/66, 15.2% each). Cervical and ovarian origins predominated in the female cohort (10/44, 22.7% each), followed by endometrial (8/44, 18.2%). Colorectal and prostate primaries were the most common among males (10/22, 45.5%, and 7/22, 31.8%, respectively). Secondary bladder tumors can mimic urothelial carcinomas. In our cohort, gynecological, colorectal, and prostatic origins were most common. Clinical history, imaging, and immunohistochemical studies can be useful in avoiding this diagnostic pitfall.

A higher degree of expression of DNA methyl transferase 1 in cervical cancer is associated with poor survival outcome.

BACKGROUND: Even though novel therapies based on aberrant DNA methylation could be of particular importance for the treatment of cervical cancer (CC) because the oncoproteins E6/E7 of high-risk human papillomaviruses, the causative agents for developing CC, have the capacity to bind and upregulate DNA methyltransferases (DNMTs), to our knowledge, no previous studies have evaluated the expression of this enzyme in CC in relation to survival outcomes. The purpose of the study was to evaluate the expression of DNMT1 in CC and its association with survival outcomes. METHODS: The study population consisted of 76 women treated for primary CC and followed up by the University of Alabama at Birmingham (UAB) cancer registry. The expression of DNMT1 was examined using immunohistochemistry, and the degree of expression of DNMT1 was expressed as a percentage of cells positive for DNMT1 and its intensity. Cox proportional hazards model was used to assess the relationship between the degree of expression of DNMT1 and overall survival after adjusting for relevant covariates. RESULTS: The expression of DNMT1 was significantly higher in CC cells compared to that in the normal cervical epithelium. A higher percentage of cells positive for DNMT1 and a higher intensity score for DNMT1 were significantly associated with poor survival outcome (hazard ratio [HR] =4.3, P=0.03 and HR =4.9, P=0.02, respectively). CONCLUSION: Our findings suggested that the degree of expression of DNMT1 could be considered as a target in the epigenetic treatment of CC. Replication of our results in other study populations with CC could create the opportunity of using DNMT inhibitors to treat CC.

Pathology quiz case: Plasmacytoid dendritic cell neoplasm.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy that possesses a heterogenous clinical and immunophenotypic presentation. The current case report describes an interesting and unique presentation of BPDCN as a primary paranasal sinus tumor without evidence of cutaneous or systemic involvement. As such, the report further contributes to the ongoing debate regarding the true putative origin of the neoplasm, as well as highlights the optimal diagnostic modalities, paramount importance of early diagnosis, and vast heterogeneity exhibited by this fascinating malignancy. The atypical presentation described here indicates the manifestations of BPDCN are more heterogenous than previously documented and thus can not be definitively ruled out in the absence of bone marrow, peripheral blood, or cutaneous involvement. Furthermore, atypical neoplastic presentations mandate flow cytometry and adjunctive immunohistochemistry for the definitive diagnosis of BPDCN, and early diagnosis of such neoplasms are critical for rapid initiation of treatment and improved outcomes.

Metastatic inflammatory myofibroblastic tumor identified by EUS-FNA in mediastinal lymph nodes with ancillary FISH studies for ALK rearrangement.

Inflammatory myofibroblastic tumor (IMT) is an exquisitely rare neoplasm with a low incidence of metastasis. Previously, cytologic diagnosis of this entity, by fine needle aspiration (FNA) or endoscopic ultrasound guided fine needle aspiration (EUS-FNA), was challenging, if not impossible. However, advancements in the field of molecular pathology, the applications of which have lagged in cytopathology relative to other disciplines, now makes diagnosis possible. Here we report a case of pulmonary inflammatory myofibroblastic tumor with mediastinal nodal metastasis in a 74-year-old man, definitively diagnosed by EUS-FNA utilizing morphologic, immunohistochemical, and molecular findings, including fluorescent in situ hybridization studies for ALK gene rearrangement. This case report demonstrates the value of ancillary molecular studies to assist in the diagnosis of rare neoplasms, including those at sites of metastasis.