Quantitative analysis of mast cells in testicular aspiration cytology smears in azoospermic males

Quantitative estimation of mast cells was done in testicular aspiration cytology smears of 90 azoospermic males. Cases included normal spermatogenesis (32), Sertoli cell only (38), late maturation arrest (16), and early maturation arrest (4). The pooled number of mast cells in 20 standard fields in Sertoli cell only and late maturation arrest cases were significantly higher than that of normal spermatogenesis (P < .001 and P < .01 respectively). Aggregates of mast cells were found around the seminiferous tubules in Sertoli cell only cases. The findings suggest that increased number of mast cells may be the cause or effect of testicular damage in idiopathic male infertility.     

Fine‐needle aspiration cytology of abdominal wall endometriosis

While about 15% of menstruating women develop endometriosis, abdominal wall endometriosis is relatively rare. We present 10 cases of abdominal wall endometriosis diagnosed by fine‐needle aspiration (FNA) cytology and confirmed by subsequent surgical excision. A palpable abdominal wall mass was the most common symptom, followed by pain. Nine cases were associated with previous surgery. The smear showed glandular epithelial cells and spindle or ovoid stromal cells accompanied by macrophages in eight cases. The nucleus was round‐to‐oval and the nucleolus was inconspicuous. Mitosis was not observed in any case. In two cases, which were suspicious of malignancy on FNA, the epithelial cells showed anisonucleosis, hyperchromasia, and small conspicuous nucleoli. The stromal cells were spindle or ovoid in shape, without metaplastic changes. Histiocytes were noted in nine cases and hemosiderin‐laden histiocytes were noted in two cases. The proportion of inflammatory cells varied. FNA diagnosis of abdominal wall endometriosis is possible when the cytological features are interpreted cautiously, together with the patient's clinical history. An accurate diagnosis on FNA will prevent unnecessary surgery. Diagn. Cytopathol. 2013. © 2011 Wiley Periodicals, Inc.     

Diagnosis of mastocytosis by fine-needle aspiration cytology

We report a case of a 28-yr-old man in whom mastocytosis was diagnosed by fine-needle aspiration (FNA) of enlarged periaortic lymph nodes. FNA cytology revealed numerous mast cells characterized by cells having round to oval eccentrically placed nuclei and associated coarsely granular cytoplasm, most conspicuous on Diff-Quik- and Giemsa-stained smears. Lymphocytes, histiocytes, and occasional plasma cells were present in the background. We believe this paper to be the first reported case of mastocytosis diagnosed by FNA. The case demonstrates the utility of FNA in evaluating lymphadenopathy occurring in mastocytosis. Diagn. Cytopathol. 1998;18:368–370. © 1998 Wiley-Liss, Inc.     

Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest

Genetic mechanisms are implicated as a cause of some male infertility, yet are poorly understood. Mouse meiotic mutant mei1 (meiosis defective 1) was isolated by a screening of infertile mice. Male mei1 mice have azoospermia due to meiotic arrest, and the mouse Mei1 gene is responsible for the mei1 phenotype. To investigate whether human MEI1 gene defects are associated with azoospermia by meiotic arrest, we isolated the human MEI1 cDNA based on the mouse Mei1 amino acid sequence. MEI1 is expressed specifically in the testis. Mutational analysis by direct sequencing of all MEI1 coding regions was performed in 27 men (13 European Americans, 13 Israeli and 1 Japanese) having azoospermia due to complete early meiotic arrest. This identified four novel, coding single-nucleotide-polymorphisms (cSNPs), i.e., SNP1 (T909G), SNP2 (A1582G), SNP3 (C1791A) and SNP4 (C2397T) in exons 4, 8, 9 and 14, respectively. Using these cSNPs, an association study was carried out between 26 non-Japanese patients with azoospermia and two sets of normal control men (61 normal European Americans and 60 Israelis). Consequently, SNP3 and SNP4 were shown to be associated with azoospermia among European Americans (P =0.0289 and P =0.0299 for genotype and allele frequencies at both the polymorphic sites, respectively), although no such association was observed among Israelis (P >0.05). Haplotype estimation revealed that the frequencies of SNP3–SNP4 (C–T), SNP3–SNP4 (A–C) and SNP3–SNP4 (A–T) were higher in the European American patients, and the frequency of SNP3–SNP4 (A–T) was also higher than in both control groups. These results suggest that MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans.     

Plasmacytoma of the larynx diagnosed by fine-needle aspiration cytology: a case report

Extramedullary plasmacytoma is a rare lesion. The use of fine-needle aspiration for diagnosis of plasmacytoma has been described in a few sporadic reports. To the best of our knowledge, none of these reports described the cytologic findings from plasmacytoma of the larynx. We report on a case of laryngeal plasmacytoma in a 79-yr-old man diagnosed by fine-needle aspiration cytology. The patient had a history of a plasmacytoma involving the sixth thoracic vertebra diagnosed in 1996, which progressed to multiple myeloma in 1997. He received treatment in the form of local radiation to the skeletal vertebrae and chemotherapy. Two years later, the patient presented with a large neck mass. Computed tomography (CT) was done at an outside facility, and the radiologic impression was of a large right glottic carcinoma with invasion into the right thyroid cartilage. Because of the history of multiple myeloma, a fine-needle aspiration (FNA) biopsy was performed of the laryngeal mass. Cytologic examination demonstrated atypical plasma cells arranged in a dissociative fashion, consistent with a plasmacytoma. Although there are previous surgical pathology reports of laryngeal plasmacytoma, to the best of our knowledge, this is the first report of plasmacytoma of the larynx diagnosed by FNA cytology.     

Fine-needle aspiration cytology of metastatic nasopharyngeal carcinoma

Over a 32-month period at the University Hospital, Kuala Lumpur, we were able to study the cytological appearance of metastatic nasopharyngeal carcinoma (NPC) in 17 cases. This comprised 14 males and three females of which 13 were Chinese, three were Malay, and one was Indian. Their ages ranged from 27 to 64 years. Histological correlation was available in all the patients in the form of nasopharyngeal biopsies, and they were classified as per the World Health Organization classification into types I, II, and III NPC. Smears from type II NPC showed good cellularity with mainly clustered and occasionally dissociated cells, with focal columnar appearance, vesicular nuclei, prominent nucleoli, and variable amounts of cytoplasm. Clusters of malignant cells closely associated with lymphoid cells and dissociation of malignant cells were more characteristic of type III NPC. FNA cytology is now applied extensively to the diagnosis of head and neck tumours and knowledge of the cytomorphology of NPC would greatly aid in pinpointing the primary of this tumour which is notorious for presenting with early nodal metastasis. Diagn. Cytopathol. 1998;19:168–172. © 1998 Wiley-Liss, Inc.     

A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females

Infertility is a common, clinically heterogeneous reproductive disorder worldwide with a prevalence of about 15%. To date about eighty genes have been discovered to cause non-syndromic infertility, affecting males and females equally, though traditionally the genetic analysis of each group has been conducted separately. Here, we report the clinical and genetic characterization of a consanguineous family of Pakistani origin with multiple individuals, including male and female, affected with infertility. Males exhibited non-obstructive azoospermia whereas females had primary ovarian insufficiency.Whole exome sequencing revealed a missense variant [c.176C > T, p. (Ser59Leu)] in the ZSWIM7 gene which functions in homologous recombination repair. The variant was found in a homozygous form in all affected males and females. To our knowledge, this is the first family that has individuals affected with infertility in both sexes. This point to the utility of large consanguineous families with multiple affected siblings to reveal joint mechanisms affecting human reproduction.     

Fine-needle aspiration cytology of extramedullary hematopoiesis (myeloid metaplasia)

Myeloproliferative disease may be associated with extramedullary hematopoiesis (EH). Clinically, however, the differential diagnosis of solid masses in these patients includes not only EH but also inflammatory lesions and malignant neoplasms, including granulocytic sarcoma. We report the fine-needle aspiration (FNA) cytology of extramedullary hematopoiesis in five patients with a history of myeloproliferative disease. All of the masses developed subsequent to the diagnosis of myeloproliferative disease. Two of the patients had chronic myelogenous leukemia, one had essential thrombocythemia, and two had an unspecified chronic myeloproliferative disorder. The patients ranged in age from 50 to 88 years, and all presented with solid masses involving the kidney (two aspirates), liver (one aspirate), and lymph nodes (three aspirates). One of the lymph node aspirates was from a paratracheal lymph node. Cytologically, the lesions were composed of varying numbers of hematopoietic cells from all three hematologic cell lines. The Diff-Quik stain was especially helpful in the recognition of the hematopoietic cells such as granulocytic precursors, eosinophils, and megakaryocytes. In several cases, the megakaryocytic component was particularly prominent. In one case, the Factor VIII immunoperoxidase stain was used to confirm the megakaryocytic lineage of the multinucleated cells. The cytologic differential diagnosis, which includes granulocytic sarcoma, inflammatory disorders, and other lesions containing multinucleated giant cells, is discussed.     

Fine-needle aspiration cytology of pulmonary carcinosarcoma with immunocytochemical and ultrastructural observations

The cytologic, immunocytochemical, and ultrastructural features of a pulmonary carcinosarcoma diagnosed by fine-needle aspiration biopsy are presented. Both malignant epithelial groups and bizarre spindle-shaped cells arranged in loose groups, microtissue fragments and in a dissociate fashion showed dual immunoperoxidase staining with cytokeratins and vimentin. Although the immunocytochemical staining pattern is typical of this neoplasm, it does not allow differentiation in all cases from the more common primary large-cell undifferentiated carcinoma, which can also show dual staining for cytokeratin and vimentin. However, the presence of poorly differentiated epithelial groupings associated with a malignant mesenchymal component set in a myxoid stroma should suggest the correct diagnosis. Cytologically, differentiating carcinosarcoma, a poorly differentiated malignancy showing dual staining for cytokeratin and vimentin, from a large-cell carcinoma is important, since the former may pursue a more indolent clinical course.     

Fine-needle aspiration cytology in a case of isolated involvement of thyroid with Langerhans cell histiocytosis

We present an unusual case of isolated thyroid involvement with Langerhans cell histiocytosis (LCH), diagnosed presumptively by fine-needle aspiration (FNA) cytology and subsequently confirmed by immunohistochemistry in a 13-yr-old boy. The cytologic findings include high cellularity in a hemorrhagic background, the presence of characteristic mononucleated and multinucleated Langerhans cells with prominent nuclear grooves, and abundant foamy cytoplasm in a background of mixed eosinophilic and lymphocytic infiltrate, along with the presence of few focal aggregates of benign thyroid follicular cells. Further diagnostic confirmation was obtained by positive S-100 protein immunohistochemistry of the Langerhans histiocytes on paraffin-embedded sections of open thyroid biopsy of the prominently enlarged left lobe. We present the complete clinicopathologic features of this case, along with ultrasound, computerized axial tomographic, and technetium-99 scan findings. We also discuss possible differential diagnostic consideration in light of a review of the literature and the role of FNA cytologic diagnosis in such a rare yet cytomorphologically characteristic case. Diagn. Cytopathol. 1998;19:33–37. © 1998 Wiley-Liss, Inc.     

Acquired gluteal myospherulosis secondary to intramuscular injections of petrolatum-based hormones: a case report diagnosed by fine-needle aspiration cytology

A case of acquired myospherulosis of the right gluteal region diagnosed by FNA cytology is reported in a woman who had received a series of intramuscular injections of petrolatum-based hormones. The lesion is characterized by inflammatory pseudocystic nodules containing saccular formations with erythrocytes or "bags of marbles." It results from a physical process similar to the emulsion phenomenon between nonresorbent oily material and plasma. This process gives rise to sequestration of blood corpuscles by oily materials and thus development of foreign body granulomas.     

无精子症患者的遗传病因分析

目的研究染色体异常及Y染色体AZF微缺失与无精子症的关系.方法采用G显带、C显带技术及多重PCR技术对48例无精症患者分别进行了细胞遗传学检查和Y染色体AZF微缺失检测.结果 48例无精症患者中发现染色体异常13例;多态5例;AZF微缺失7例.遗传因素引起的无精子症占整个无子精症病因的34%.结论染色体异常及Y染色体AZF微缺失是引起无精子症的重要原因,在进行无精子症的临床诊断时,遗传因素不可忽视.     

Fine-needle aspiration cytology and immunocytochemistry of Hodgkin's disease,suppurative type

We describe 3 cases of Hodgkin's disease (HD) of unusual suppurative type, which were diagnosed on fine-needle aspirates. The smears were dominated by neutrophils, macrophages, and cellular debris. Only a few large, atypical cells of Hodgkin and Reed-Sternberg type were observed. The differential diagnoses of such smears include infectious mononucleosis, tuberculosis, metastatic lymph node involvement, non-Hodgkin's large-cell anaplastic Ki-1-positive lymphomas, T-cell-rich B-cell lymphomas, and peripheral T-cell lymphomas of mixed type. Immunocytochemistry identified the large atypical cells as CD 30 (BerH2)-positive and negative for CD 45 (LCA) in cytospin material from 2 patients, which allowed a conclusive diagnosis of HD. Diagn. Cytopathol. 1998;18:437–440.© 1998 Wiley-Liss, Inc.     

Fine-needle aspiration cytology findings in a case of aggressive angiomyxoma: A case report and review of the literature

Aggressive angiomyxomas are uncommon but distinct soft-tissue neoplasms occurring predominantly in the pelvis and peritoneum of females, but they have occasionally been reported in association with inguinal hernias in males. Histologically, these neoplasms are characterized by a proliferation of spindle- or stellate-shaped cells widely separated by loose myxoid stroma in which is dispersed a prominent vascular component. The vascular component is comprised of large, thick-walled vessels that generally do not show an arborizing pattern. Mitotic activity has been exceedingly low in the cases reported. Because of their occurrence within the groin, these lesions may undergo fine-needle aspiration (FNA). Cytologic examination of this material will reveal hypocellular smears containing scattered spindle cells with bipolar cytoplasmic processes, as well as bland stellate cells. The nuclei are fusiform to oval with a bland chromatin pattern. The stromal cells lie in a background of watery myxoid material. While specific diagnosis by FNA is not possible, the recognition of this cytologic appearance should exclude lymphoproliferative processes as well as metastatic disease from the differential diagnosis. Careful attention to cytologic detail should also help exclude certain other myxoid neoplasms, especially myxoid liposarcoma. Once the myxoid stromal nature of the proliferation is recognized, a differential diagnosis of myxoid lesions can be considered along with a recommendation for open biopsy to establish the definitive diagnosis. Diagn. Cytopathol. 16:425–429, 1997. © 1997 Wiley-Liss, Inc.     

血清抑制素B在无精子症患者中的临床应用

目的探讨无精子症患者血清中抑制索B的临床价值和应用。方法血清INHB采用双抗体夹心酶联免疫吸附技术，血清FSH采用化学发光法检测。结果28例非阻塞性无精子症患者血清抑制素B水平明显低于对照组（20例）．差异有显著性（P〈0，05），其血清FSH水平明显高于对照组，差异有显著性（P〈0．01）；加例阻塞性无精子症患者血清抑制素B、血清FSH水平，与对照组比较差异均无显著性，与非阻塞性无精子症组患者比较差异均有显著性（P〈0．01）。结论抑制素B也是评价不育男性精子发生的内分泌标志物，又是预测非阻塞性无精子症病人进行睾丸精子抽吸是否成功的指标。     

Fine-needle aspiration cytology of hematopoietic lesions from multiple sites

We reviewed 130 fine-needle aspiration (FNA) biopsies from 118 patients with a variety of benign and malignant hematopoietic lesions. There were 74 (57%) malignant, 45 (35%) benign, and 11 (8%) atypical diagnoses. Immunocytochemistry of the aspirated material was performed in 47 (36%) and electron microscopy in 4 (3%) of the cases. FNA cytology was utilized to make a primary hematopoietic malignant diagnosis in approximately half of the cases and to confirm recurrence in the remainder. The malignant cases included non-Hodgkin's lymphoma. Hodgkin's disease, medullary and extramedullary plasmacytoma, and granulocytic sarcoma. Forty-two malignant cases had either previous or follow-up surgical biopsy with no false-positive diagnoses. Of the 11 atypical cases, seven had surgical confirmation with five malignant and two benign diagnoses. The benign hematopoietic lesions correctly identified included acute and chronic lymphadenitis, granulomatous processes, and eosinophilic granuloma. Only 5 of the 45 benign FNA biopsies had surgical pathology follow-up, with no false-negative diagnoses. The most commonly aspirated sites were lymph nodes (71%), although hematopoietic lesions were correctly identified in a number of extranodal locations, including soft tissue (8%), abdominal viscera (6%), lungs (5%), mediastinum (2.5%), bone (3%), and thyroid, salivary gland, and breast (1.5% each). This study demonstrates the clinical utility and diagnostic accuracy of FNA cytology in the evaluation of benign and malignant hematopoietic disorders from multiple sites. Ancillary studies performed on the aspirated material aided in making a specific and accurate diagnosis.     

Fine‐needle aspiration cytology of subcutaneous toxoplasmosis: A case report

Toxoplasmosis is a common opportunistic infection in patients with AIDS in whom it typically presents as encephalitis, pneumonia, lymphadenitis, and myocarditis. Skin involvement is very rare and, to our best knowledge, Toxoplasma gondii forming a subcutaneous mass has not been reported. Here, we report the findings of an interesting case of subcutaneous toxoplasmosis with the cytological appearance of an inflammatory fibrovascular lesion in a HIV‐positive patient and discuss the differential diagnosis. Diagn. Cytopathol. 2010;38:716–720. © 2009 Wiley‐Liss, Inc.