Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.

Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side. The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in the gonad and not on the characteristics of the internal and external genitalia, even if ambiguous. Herein, we report two patients with ovotesticular DSD-one presenting with ambiguous genitalia on the third day after birth and the other with short stature and primary amenorrhea in adolescence. Clinical and histopathological investigation revealed a sex-determining region on the Y chromosome (SRY)-positive 46,XX karyotype and bilateral ovotestes in case 1 and a 46,XY karyotype with hypergonadotropic hypogonadism and a streak gonad in one ovotestis with dysgerminoma, gonadoblastoma, and papillary tubal hyperplasia in the contralateral ovotestis in case 2. Laparoscopic examination and gonadal biopsy for histopathological diagnosis remain the cornerstones for a diagnosis of ovotesticular DSD. Moreover, SRY positivity in a 46,XX patient, a 46,XY karyotype, an intra-abdominal gonad, and the age of patient at the time of diagnosis are predictive risk factors for the development of gonadoblastoma and/or dysgerminoma in ovotesticular DSD.

Cystic change in metastatic lymph nodes: a common diagnostic pitfall in fine-needle aspiration cytology.

Fine-needle aspiration cytology (FNAC) of cystic metastases is a challenging diagnostic category and has been investigated in a limited number of malignancies and sites. The present study retrospectively reviewed 1,211 FNAC of superficial masses, including lymph nodes (1,102 aspirates), benign cystic lesions (64 aspirates), and lymphocysts (45 aspirates) with the aim of determining the tumors that cause cystic change in metastases. Cytology results from 1,102 lymph node aspirations were suspicious or positive for malignancy in 541 specimens (49.1%), benign in 230 (20.9%), and unsatisfactory in 331 (30%). There were 28 malignant aspirates demonstrating cystic change (5.2%). The tumor type that most frequently caused cystic change was thyroid papillary carcinoma (42.8% of cases), followed by squamous cell carcinoma (primary in the head and neck region 30.8% and in the skin 24%), tumors of unknown origin (6.3%), serous papillary carcinoma of the ovary or endometrium (4.8%), and malignant melanoma (2.1%). Cystic change was observed most commonly in the head and neck region lymph nodes (60%). The most challenging lesions to assess using FNAC were metastatic lymph nodes showing cystic change, accounting for six of the 16 false-negative diagnoses and one false-positive diagnosis. The results of this study suggest that cystic change in metastatic lymph nodes occurs in certain types of tumors and is an important cause of diagnostic error. FNAC should be repeated in case of suspicious hypocellular cystic aspirations, especially in patients with known malignancy.

Ultrasound-guided fine needle cytology of retroperitoneal masses in patients with malignant germ cell tumours: diagnosis and therapeutic impact.

PURPOSE: There are few reports on the use of fine needle cytology (FNC) for the detection of retroperitoneal lymph node metastases from malignant germ cell tumours (MGCT). In order to determine efficiency of the procedure and its impact on therapeutic approaches, this study reviews experience with ultrasound-guided transabdominal FNC in patients with MGCT. PATIENTS AND METHODS: Twenty-four patients with known malignant germ cell tumour and four patients without previous histology, presented with retroperitoneal masses. They underwent ultrasound-guided fine needle cytology (aspirations were done twice in two patients). Clinical data were retrieved from the medical records and all cytological specimens were reviewed. In metastatic cases, the cytologic findings were correlated with the histology of the primary tumour. RESULTS: Twenty-one of 30 specimens (70%) were diagnosed as malignant, 6 (20%) were benign, and 3 (10%) were unsatisfactory for the cytologic diagnosis. Five of the 21 malignant lesions were < or =10mm. FNC yielded the correct diagnosis in all four cases of extragonadal malignant germ cell tumours. In four other patients, FNC solved significant staging problems at the diagnosis. In 7 of 11 patients with the suspicion of retroperitoneal recurrence and normal serum tumour markers during follow-up, FNC confirmed the malignant morphology of the lesions. CONCLUSIONS: In experienced hands, ultrasound-guided FNC can be a valuable method for the morphological diagnosis of retroperitoneal manifestations from MGCT. FNC should be added in follow-up and staging procedures (radiological imaging and serum tumour markers) in selected patients in whom the histological verification of such lesions is critical for the patient's management.

Fine-needle aspiration cytology of lobular carcinoma in situ.

Fine-needle aspiration cytology (FNAC) plays a key role in the preoperative diagnosis of breast carcinoma but is less reliable in the diagnosis of in situ lesions. The objective of the present study was to investigate the cytological features of lobular carcinoma in situ (LCIS), regarding which little data is available to date. Cytological features of FNAC of the breast from 21 patients with histology-proven LCIS were described and compared with surgical specimens. Aspirates from 8/21 cases had cell groups diagnostic for or compatible with LCIS. Aspirates from an additional two cases demonstrated hypercellular, dissociated, and more pleomorphic tumor cells, which were originally diagnosed as invasive lobular carcinoma (ILC). The remaining 11 aspirates were diagnosed as benign or nondiagnostic. FNAC from the eight diagnostic specimens were characterized by loosely cohesive cell groups composed of uniform cells with occasional intracytoplasmic lumina, slightly irregular and eccentric nuclei. We conclude that the main difficulty in diagnosing LCIS by FNAC is sampling rather than recognition of the lesions. However, one should be aware of the cytological features of LCIS in order to reach a correct diagnosis. There are no reliable cytological criteria that help in differentiating pleomorphic and dissociated LCIS from ILC.

The gray zone in breast fine needle aspiration cytology. How to report on it?

OBJECTIVE: To study the "gray zone" in breast fine needle aspiration cytology in which an unequivocal diagnosis cannot be reached with fine needle aspiration cytology findings. STUDY DESIGN: This study compared cytology and histopathology of 72 breast lesions in which an initial cytologic diagnosis of atypia was given. RESULTS: There were 36 benign (50%) and 36 malignant (50%) histologic biopsy cases in the cytologic atypia group. Anisonucleosis, chromatin and nuclear membrane irregularity, and presence of myoepithelial cells were significantly different in benign and malignant cases. CONCLUSION: The gray zone in breast fine needle aspiration cytology is a broad spectrum that changes from proliferative fibrocystic disease to sclerosing adenosis to malignancy. Diagnosing gray zone pathology as atypical in fine needle aspiration cytology causes no delay in treatment as excisional biopsy is recommended for all equivocal cases.