Spectrum of Clinicopathological Deviations in Long-Segment Hirschsprung Disease Compared With Short-Segment Hirschsprung Disease: A Single-Institution Study.

Hirschsprung disease (HSCR) is a congenital disorder characterized by intestinal aganglionosis leading to pseudoobstruction. The majority of cases are limited to the rectum or rectosigmoid (S-HSCR). A variably longer segment can be affected (L-HSCR), which may show many deviations from S-HSCR. We retrospectively reviewed 48 clinicopathologically confirmed total cases of HSCR at a single institution in a 21-year period to identify L-HSCR cases and determine their deviations from known features of S-HSCR. Eight L-HSCR cases were found where aganglionosis extended to the terminal ileum (7/8) or to the splenic flexure (1/8). L-HSCR lacked male preponderance and was in contrast more common in females (6/8). Associated anomalies included congenital heart disease (2) and neonatal hypothyroidism (1), previously underreported associations. The clinical diagnosis of L-HSCR was often delayed (average age at diagnosis 13 days) and the diagnosis was more often made operatively (5/8) rather than on rectal suction biopsy (3/8). Histologically, apart from aganglionosis, neural hyperplasia was either absent or focal, compounding the diagnostic difficulty. Although the number of cases in our study was limited due to the rarity of L-HSCR, this study still highlights the spectrum of deviations of L-HSCR from known clinicopathological features of S-HSCR.

Fine needle aspiration cytology of cystic primary adult granulosa cell tumor of the ovary: Potential diagnostic pitfalls with other cystic ovarian lesions.

INTRODUCTION: Fine needle aspiration(FNA) of cystic adult granulosa cell tumors(CAGCT) has been sporadically reported in the literature. We undertook a retrospective study to further elucidate the cytologic features on FNA material in order to avoid possible misinterpretation with other primary tumors of ovary. MATERIALS AND METHODS: During 1992 and 2014, FNA of five cases of CAGCT were recorded. RESULTS: The patient's age ranged from 28 to 62 years. One was bilateral and all cases involved right side of ovary. The size of tumor was 5.5 to 10 cm. FNA of the five CAGCT show similar cytologic features except one case. Four cases contained a background composed of histiocytic cells and debris material. The tumor cells were small with round to oval nuclei and fine chromatin pattern, inconspicuous nucleoli, scanty cytoplasm with rare intranuclear longitudinal grooves. Tumor cells were arranged in small groups as well as single cells were appreciated some of which were deprived of cytoplasm. Microfollicular or rosette pattern were vague, some of which contain amorphous material resembling Call-Exner bodies. In addition, two cases also showed prominent papillary component and one of which was misdiagnosed for serous papillary carcinoma. All five cases were surgically resected and CAGCT was confirmed. CONCLUSIONS: FNA of CAGCT of ovary can be a challenging diagnosis as classic cytologic features may not be present and can be confused with benign follicular cyst especially when the ultrasound study favor benign cystic lesion. Rarely this tumor may show prominent papillary component and can be confused for a more clinically aggressive tumor such as papillary serous carcinoma. Diagn. Cytopathol. 2016;44:461-465. © 2016 Wiley Periodicals, Inc.

Asymptomatic diffuse "encephalitic" cerebral toxoplasmosis in a woman with systemic lupus erythematosus.

Classic cerebral toxoplasmosis typically presents with neurologic symptoms such as seizures and mental status changes and histological examination shows focal lesions with necrosis. However, in the diffuse "encephalitic" form, patients are asymptomatic with diffuse, inflammatory, non-necrotic lesions. Asymptomatic diffuse "encephalitic" toxoplasmosis has been reported only in four acquired immunodeficiency syndrome patients and one human immunodeficiency virus (HIV) negative patient with chronic lymphocytic leukemia. We present a 36-year-old HIV-negative woman with systemic lupus erythematosus and lupus nephritis who was on immunosuppression for 9years after cadaveric renal transplant and died from pulmonary hemorrhage and cytomegalovirus pneumonia. Brain autopsy findings revealed multifocal microglial nodules containing Toxoplasma bradyzoites and associated astrogliosis. These nodules were prominent in the cerebellum, midbrain and medulla and also present in the cortex and thalamus. No coagulative necrosis, necrotizing abscesses, or other opportunistic infections were present. The patient had previously exhibited no neurologic symptoms and there was no clinical suspicion for toxoplasmosis. To the best of our knowledge, this is the first case of diffuse, non-necrotizing, "encephalitic" cerebral toxoplasmosis reported in a lupus patient and also the first reported female case.

Cytological features of Castleman disease: a review.

INTRODUCTION: Castleman disease (CD) is a benign lymphoproliferative disorder with hyaline vascular (HVCD), plasma cell (PC-CD), and mixed subtypes. Only HVCD lymph node cytomorphology has been described, mainly as case reports. We reviewed all CD subtypes. To the best of our knowledge, our case series is the largest and most comprehensive yet published. MATERIALS AND METHODS: We searched our institution's database for histologically confirmed CD cytology cases (fine needle aspiration, touch preps) for the past 23 years. Two independent pathologists evaluated cytomorphology. We then reviewed touch preps from 6 histologically confirmed, non-CD reactive lymph node excisions. RESULTS: 8 patients (5 women, 3 men) had the following subtypes: HVCD (5 patients), PC-CD (2), and mixed (1). All cases had a heterogenous background population composed predominantly of small lymphocytes with single and clustered follicular dendritic cells (FDCs). The FDCs had delicate pale cytoplasm with indistinct borders showing lymphocyte emperipolesis. They were often binucleated or multinucleated with fine chromatin, regular nuclear borders, large nuclei, and small nucleoli. HVCD cases had traversing, frequently hyalinized capillaries. PC-CD cases had increased plasma cells, including binucleate forms, and tingible body macrophages with fewer FDC clusters. Human herpes virus-8 immunostain was negative in all cases. Non-specific follicular hyperplasia cases had abundant tingible body macrophages, rare hyalinized capillaries, and no lymphocyte emperipolesis. CONCLUSIONS: CD is distinguished by background lymphocytes and cohesive FDC clusters with lymphocyte emperipolesis. HVCD has traversing, hyalinized capillaries and PC-CD has increased plasma cells and tingible body macrophages. Knowledge of these features can prevent a lymphoma misdiagnosis.

Fine needle aspiration of secondary synovial sarcoma of the thyroid gland.

Synovial sarcomas (SS) of the head and neck region are extremely rare and arise in only 5% of cases. We present a case of secondary SS of the thyroid originally diagnosed as medullary carcinoma on fine needle aspiration (FNA). A 41-year-old man presented with several weeks of dysphonia and a left thyroid mass. FNA of the thyroid nodule showed a cellular smear composed of loosely cohesive oval to spindle-shaped cells with irregular nuclear borders, finely granular chromatin, and inconspicuous nucleoli. The patient was diagnosed with medullary carcinoma and underwent a total thyroidectomy. Intro-operatively, the mass was found to arise from the tracheoesophageal groove with spread to the left thyroid. Microscopic examination of the thyroid tumor revealed a dense spindle cell proliferation with abundant mitoses, scant cords and nests of epithelial cells and foci of necrosis. The spindle cells were positive for bcl2 and vimentin and the epithelial cells were positive for cytokeratin 8/18 and epithelial membrane antigen (EMA). Both spindle and epithelial cells were negative for thyroglobulin, calcitonin, synaptophysin and chromogranin. Fluorescence in situ hybridization (FISH) demonstrated translocation (X;18)(p11;q11), confirming the diagnosis of SS. The patient underwent a total laryngopharyngoesophagectomy with subsequent adjuvant therapy and is currently disease free. Only 6 cases of histologically confirmed primary SS of the thyroid have been reported. To the best of our knowledge, this is the first case of FISH-confirmed secondary SS of the thyroid and also the first case of SS arising from the tracheoesophageal groove.

Radiation esophagitis.

The esophagus is frequently exposed to radiation during treatment of advanced stages of common cancers such as lung, breast, and esophagus. However, symptomatic radiation esophagitis requiring endoscopic and histologic evaluation occurs quite rarely, affecting less than 1% of patients receiving radiation treatment. Symptoms occur acutely, generally within the first 2 months. Patients typically present with nonspecific symptoms such as dysphagia and odynophagia. Endoscopic changes such as erythema and ulceration are also nonspecific and nondiagnostic. Biopsies from affected areas show variable inflammatory changes and radiation-related atypia of endothelial and stromal cells. Such atypia mimics cytomegalovirus cytopathic changes, which are ruled out through absence of immunostaining. Radiation esophagitis is thus clinically unsuspected and endoscopically and histologically quite different from the more common and familiar radiation proctitis for which angioectasia is the predominant finding.

Hematologic lesions in urine cytology.

INTRODUCTION: Bladder infiltration by leukemia or lymphoma is rare and can mimic benign processes such as follicular cystitis (FC). MATERIALS AND METHODS: Eight benign and malignant hematologic diseases encountered in urine cytology were retrospectively reviewed for clinical, radiographic, and cytologic findings. RESULTS: There were 2 cases of acute myeloid leukemia, 2 cases of diffuse large B-cell lymphoma, and 4 cases of FC. The most common presenting symptom was hematuria. Imaging findings included echogenic debris within the bladder or an adjacent soft tissue mass in acute myeloid leukemia cases and bladder wall thickening in diffuse large B-cell lymphoma cases. No FC cases had any imaging abnormalities. Cytologic material of the leukemia cases showed numerous myeloid blasts with markedly increased nuclear-to-cytoplasmic ratios, centrally located nuclei, inconspicuous nucleoli, nuclear indentations, and some irregular nuclear membranes. The background showed sparse urothelial cells and histiocytes. Both lymphoma cases showed a discohesive population of atypical large lymphoid cells with irregular nuclear borders and prominent nucleoli. The FC cases had a background lymphoid cell population with a maturation spectrum from small lymphocytes to large lymphoid cells (immunoblasts) and histiocytes including tingible body macrophages. Additionally, there were many mature squamous cells and reactive urothelial cells. CONCLUSIONS: Bladder leukemia, lymphoma, and FC are infrequently encountered on urine cytology. FC can be distinguished from a hematologic malignancy by the presence of a lymphocytic maturation spectrum and tingible body macrophages. Radiologic abnormalities are associated with malignant processes; however, discrete bladder masses are usually not identified.

Cytologic findings of hematologic malignancies in bronchoalveolar lavage fluid.

INTRODUCTION: Bronchoalveolar lavage (BAL) is often performed in leukemia and lymphoma patients with pulmonary infiltrates, mainly to rule out infection. However, malignant hematopoietic infiltrates are uncommon and a comprehensive cytologic study has not yet been performed. MATERIALS AND METHODS: We retrospectively reviewed all BAL samples from our institution for the past 22 years (November 1992-October 2014). RESULTS: There were 37 cases of hematologic malignancies identified on BAL specimens (21 female patients and 16 male patients, age 22-80 years). Eighteen patients (49%) had pneumonia-like symptoms at the time of initial diagnosis of their malignancy, including fever, dyspnea, respiratory distress/hypoxia, and cough. The biopsy-proven cases were 25 leukemia (12 acute myeloid leukemia, 6 acute promyelocytic leukemia, 2 acute monocytic leukemia, 2 acute myelomonocytic leukemia, 1 chronic myeloid leukemia in blast phase, 1 large granular leukemia, and 1 plasma cell leukemia), 11 lymphoma (8 diffuse large B-cell lymphoma, 1 mantle cell lymphoma, 1 natural killer/T-cell lymphoma, and 1 T-cell lymphoma), and 1 multiple myeloma. Chest X-ray findings included opacities, consolidation, and interstitial edema. Four patients had BAL specimens with concomitant microorganisms. Eighteen patients subsequently died (2 days to 4 years), 15 were alive (3 weeks to 8 years of follow-up), and 4 were lost to follow-up. CONCLUSIONS: BAL is especially important in distinguishing inflammatory/infectious processes from neoplastic disorders because many patients with hematologic malignancies can have pneumonia-like symptoms as part of their initial disease presentation. Causative pathogens are identified in only a minority of malignant BAL specimens from these patients. Lung involvement in patients with hematologic malignancies carries a poor prognosis.

Benign cystic mesothelioma associated with ipsilateral renal agenesis: a case report and review of literature.

Benign Cystic Mesothelioma (BCM) is an uncommon peritoneal lesion that usually occurs in reproductive age females with a history of abdominal surgery. Occasional expression of estrogen and progesterone receptor in these cells may explain female predilection. Reports of BCM in males are rare. We describe a case of BCM associated with ipsilateral renal agenesis in a young male without any surgical history. The cyst lining stained positive for cytokeratin, Wilms Tumor-1, epithelial membrane antigen, CD10, estrogen receptor, and progesterone receptor, and negative for PAX-8. Only three cases of BCM associated with congenital renal anomalies have been reported. To the best of our knowledge, this is the first case of BCM associated with ipsilateral renal agenesis in an adult male and the first male case of BCM displaying estrogen and progesterone receptor positivity. Such a case reveals the presence of congenital anomalies should be considered in patients with BCM.

Cytologic features of the normal pineal gland on squash preparations.

As primary pineal lesions are extremely rare, many surgical pathologists are unfamiliar with normal pineal cytologic features. We describe cytologic features of the normal pineal gland in patients of varying ages and identify common diagnostic pitfalls. We performed a retrospective review of pineal gland biopsies performed at our institution, where approximately 30,000 surgical specimens are accessioned yearly, for the last 23 years. Only two pineal gland biopsies were found. Although both cases were initially diagnosed as low-grade gliomas on frozen section, the final diagnosis was benign pineal tissue based on light microscopy and immunohistochemistry results. Additionally, we performed squash preparations of five normal pineal gland autopsy specimens with Papanicolaou and Diff-Quik® (Dade Behring, Newark, DE) stains. Infant preparations were highly cellular smears composed of numerous, uniform, single cells with indistinct cytoplasm, small round-to-oval nuclei, fine chromatin, and absent nucleoli and calcifications. The vague microfollicular pattern mimicked a pineocytoma and the fine fibrillary background mimicked a glial neoplasm. Young adult smears were similar; however, microcalcifications were present with fewer background single cells. Older patients had much less cellular smears composed of small clusters of cells with fusiform-to-spindle nuclei, a fine chromatin pattern, and indistinct cytoplasmic borders. There were fewer background single cells and more microcalcifications. The cytologic features of the native pineal gland vary with age. Normal pineal tissue can be confused with a pineocytoma or low-grade glioma. Familiarity with normal pineal gland cytological features will help to avoid a potential misdiagnosis.

Aldosterone contributes to elevated left ventricular mass in black boys.

BACKGROUND: Left ventricular hypertrophy (LVH) poses a great risk of cardiovascular morbidity and mortality in adults and may pose a serious risk in children. Adult studies have shown that renin-angiotensin-aldosterone system (RAAS) levels directly correlate with left ventricular mass index (LVMI). The purpose of this study is to explore race- and sex-related effects of the RAAS on LVMI in adolescents. METHODS: Data were collected from a sample of 89 blacks (44 girls, 45 boys) and 102 whites (40 girls, 62 boys) aged 15-19. Data collected included sex, age, body mass index (BMI), LVMI, baseline blood pressure, and levels of aldosterone and angiotensin II. RESULTS: In black males, increased aldosterone levels correlated with decreased sodium excretion (r= -0.336, p=0.024), increased blood pressure (r=0.358, p=0.016), and increased LVMI (r=0.342, p=0.022). In black females, increased aldosterone levels correlated with increased baseline blood pressure (r=0.356, p=0.018). In white males, increased aldosterone correlated with decreased sodium excretion (r= -0.391, p=0.002). In white females, aldosterone levels correlated with increased baseline blood pressure (r=0.323, p=0.042) and decreased sodium excretion (r= -0.342, p=0.031). CONCLUSIONS: The results suggest the following model in black males: increased aldosterone leads to increased sodium retention, causing a volume-mediated increase in blood pressure; increased blood pressure results in increased left ventricular mass, and eventually LVH.