Peritoneal Amyloid as a Presenting Manifestation of AL Amyloid.

Amyloid is a systemic disease characterized by extracellular deposition of misfolded protein. Gastrointestinal and peritoneal deposition of light chain (AL) amyloid is an under-recognized manifestation of this systemic disease, usually as a late sequela. Here we present a case of recently diagnosed AL peritoneal amyloid that presented in the context of recurrent, acute onset abdominal discomfort and was found to have bowel obstruction complicated by perforation in the setting of AL-mediated gastrointestinal tract infiltration and dysmotility.

A novel group of HPV-related adenocarcinomas of the lower anogenital tract (vagina, vulva, and anorectum) in women and men resembling HPV-related endocervical adenocarcinomas.

Human papillomavirus (HPV) is an oncogenic virus associated with the development of several human cancers. Primary vaginal, vulvar, and anal adenocarcinomas are rare and, to date, have rarely been shown to be associated with HPV infection. We report a series of nine HPV-related adenocarcinomas of the lower anogenital tract distal to the cervix. The tumors involved the vagina (4), anorectum (3), and vulva (2). Two of the three anorectal cases involved men. Patients presented with a vulvar or vaginal mass/nodule, painless rectal bleeding, or during screening colonoscopy. Lesions ranged in size from 3.2 to 8.4 cm. The most salient morphologic characteristic was the presence of papillary or villiform/villoglandular architecture in all cases. Tumors displayed features similar to those of usual type high-risk HPV-related endocervical adenocarcinoma, namely, mucinous or mucin-poor (pseudoendometrioid) features or a hybrid of these, with columnar cells with crowded, cigar-shaped to ovoid irregular nuclei. Mitoses (mostly apical) and apoptotic bodies were easily identified. Adenosis was present in two vaginal cases. One anal tumor featured abundant intracytoplasmic mucin that was multivacuolated in some areas imparting a "clear cell"-like appearance. All tumors were diffusely and strongly positive for p16. Seven of seven tested cases were positive for high-risk HPV by in situ hybridization or polymerase chain reaction. Follow-up information, available in five patients, revealed two local recurrences but no tumor related deaths or distant metastases. We report the first well-documented series of HPV-associated primary adenocarcinomas of the vagina, vulva, and anorectum and broaden the spectrum of HPV-related neoplasia involving the lower anogenital tract in both women and men.

Tissue requirements in lung cancer diagnosis for tumor heterogeneity, mutational analysis and targeted therapies: initial experience with intra-operative Frozen Section Evaluation (FROSE) in bronchoscopic biopsies.

BACKGROUND: Recent advances in lung cancer treatment have changed the requirement for the amount and quality of biopsy specimens needed to characterize the tumor and select the best treatment. One adjunct to guide the bronchoscopist on the quality and quantity of specimens during bronchoscopic biopsies for the diagnosis of lung cancer is rapid on-site evaluation (ROSE) of cytological specimens. This technique has been shown to add to the diagnostic yield of bronchoscopy when obtaining adequate specimens for molecular profiling in lung cancer. ROSE is not available at all medical centers. We describe our initial experience using intra-procedural Frozen Section Evaluation (FROSE) of bronchoscopic biopsy specimens as an alternative to ROSE. METHODS: A retrospective analysis of all interventional pulmonology cases using FROSE between February and July 2015 was performed. Results analyzed to evaluate the success in obtaining adequate specimens for molecular profiling. RESULTS: A total of 88 interventional pulmonology cases employing a frozen section in at least one site were identified. In 94.3% of cases, a definitive diagnosis of benign or malignant was made. The concordance of frozen section diagnoses of benign or malignant was 100% with final diagnoses. Thirteen of the eighty-eight cases were ultimately sent for molecular analysis. Of these, twelve of thirteen (92.3%) cases were adequate to perform all ordered molecular testing. In all cases there was sufficient tissue to perform EGFR and ALK testing. CONCLUSIONS: In medical centers where ROSE may not be available, the use of FROSE by the local pathologist can be an effective technique to obtain adequate tissue and cytological samples for the diagnosis and molecular profiling of lung cancers. Further prospective study in bronchoscopic tissue sampling techniques to obtain the optimum quantity and quality of samples for molecular profiling of lung cancers for targeted treatments is needed.

Atypical Hidradenoma Mimicking Primary Mammary Carcinoma on Breast Fine-Needle Aspiration: A Case Report with Long-Term Follow-Up.

BACKGROUND: Fine-needle aspiration (FNA) is well-established as an accurate technique for the diagnosis of palpable breast masses. While the differential diagnosis of such lesions usually focuses on benign or malignant mammary proliferations, a subset of breast neoplasms arises from skin and soft tissue. Skin adnexal neoplasms such as hidradenoma can pose a particular pitfall on breast FNA cytology (FNAC) as epithelial proliferations that are not of ductal or lobular origin. CASE: A 59-year-old female presented with a superficial breast mass. FNAC revealed a hypercellular lesion with marked nuclear atypia that was highly suspicious for carcinoma. However, at partial mastectomy, the histological features of the tumor were consistent with atypical hidradenoma. Negativity for estrogen receptor (ER) and progesterone receptor (PR) confirmed the diagnosis. Eighteen years later, the patient remains free of recurrence or metastasis. CONCLUSIONS: This report offers the first description of findings of atypical hidradenoma on FNAC. In the breast, its high cellularity and nuclear atypia can mimic a primary mammary carcinoma on FNAC. Although breast and skin adnexal tumors show a immunohistochemical overlap, negative ER and PR stains in a low-grade tumor can suggest a nonmammary lesion. Skin adnexal neoplasms should be considered in the differential diagnosis of superficial breast tumors.