Primary Rosai-Dorfman disease of bone without lymphadenopathy diagnosed by fine needle aspiration cytology. A case report

BACKGROUND: Solitary bone involvement without lymphadenopathy is a rare manifestation of Rosai-Dorfman disease, or sinus histiocytosis with massive lymphadenopathy (SHML). Only 11 cases have been reported in the literature to date, all diagnosed on histology. CASE: A 7-year-old girl had a radiolucent, lytic lesion in the shaft of the tibia clinically simulating Ewing's sarcoma. Fine needle aspiration cytology (FNAC) showed a microscopic picture typical--of SHML. There was no lymphadenopathy. CONCLUSION: Rosai-Dorfman disease sometimes involves bone without lymphadenopathy and can be diagnosed confidently on FNAC. To the best of our knowledge, this is the 12th case report of solitary bone involvement.     

Association of sinus histiocytosis with massive lymphadenopathy and idiopathic hypereosinophilic syndrome

A patient was evaluated because of edema, pruritus and generalized painless lymphadenopathy. Laboratory tests showed marked eosinophilia without known etiology. CT scan of abdomen revealed multiple lymph nodes in retroperitoneal area. Lymph node biopsy was reported as sinus histiocytosis, bone marrow biopsy showed hypercellularity with marked infiltration of normal eosinophils. During his admission he developed Coombs positive hemolytic anaemia. Once he was stable, a laparotomy was performed and the patient died two days later because of septic shock. Autopsy revealed sinus histiocytosis with massive lymphadenopathy (SHML) with extranodal involvement of duodenum, spleen and prostate; septic liver and spleen, pyelonephritis, marked infiltration of eosinophils in lymph nodes, spleen, liver duodenum and lungs. To the best of our knowledge, this is the first case report of the association of SHML and Idiopathic Hypereosinophilic Syndrome (HES).     

Fine needle aspiration cytology and immunocytochemical characterization of the histiocytes in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman syndrome)

A fine needle aspiration (FNA) biopsy of an enlarged lymph node in a three-year-old boy who had asymptomatic cervical and submandibular lymphadenopathy showed large histiocytes with abundant pale, eosinophilic cytoplasm containing well-preserved lymphocytes and occasional plasma cells and granulocytes. These features were consistent with a diagnosis of sinus histiocytosis with massive lymphadenopathy (SHML). Immunophenotypic study of the histiocytes, performed on the FNA smears and on paraffin-embedded sections, showed reactivity for S-100 protein and alpha-1-antichymotrypsin and negativity for lysozyme. These features, which are characteristic of SHML, demonstrate the reliability of FNA cytology in making the diagnosis of this disorder.     

Rosai-Dorfman disease manifesting as multiple subcutaneous nodules. Report of a case with diagnosis on a fine needle aspirate

BACKGROUND: Rosai-Dorfman disease (RDD), or sinus histiocytosis with massive lymphadenopathy, is a benign, self-limiting histiocytic proliferative disorder commonly involving the lymph nodes. Extranodal disease occurs in about 40% of cases, and the sites involved are skin, nasal cavity, paranasal sinuses, eyelids, orbit, bone and central nervous system. CASE: A case of RDD presented as subcutaneous nodules and was diagnosed on a fine needle aspirate. The aspirate revealed numerous histiocytes with phagocytosis of lymphocytes, plasma cells and neutrophils. Surgical biopsy and immunocytochemical stain for S-100 protein confirmed the diagnosis. Later the patient developed lymphadenopathy and involvement of the nasal septum. CONCLUSION: Extranodal RDD can be diagnosed by FNAC in conjunction with immunocytochemistry.     

Orbital Inflammatory Disease in A Patient Treated with Zoledronate

ObjectiveTo increase awareness of orbital inflammatory disease as a rare adverse effect of bisphosphonates.MethodsWe present a case report and a review of the relevant literature.ResultsA 57-year-old woman with history of esophageal, breast, and lung cancers was diagnosed with postmenopausal osteoporosis. She initially received intravenous ibandronate for a total of 6 infusions. Later, she was changed to zoledronate infusion because of its yearly dosing schedule. Several hours after her initial infusion of zoledronate, she developed a painfully swollen left eye with photophobia. Ophthalmologic exam showed edema of the left upper lid. No exophthalmos was noted. Slitlamp exam showed conjunctival injection in the left eye with an elevated intraocular pressure. An orbital computed tomographic scan showed inflammation of the left orbital, preseptal, and retroseptal spaces. She was started on 2 methylprednisolone dose packs and the swelling and erythema disappeared completely in 2 weeks. Subsequent orbital magnetic resonance imaging showed no mass within either the left or right orbit, and no abnormal enhancement following contrast administration.ConclusionPhysicians should be aware of this rare complication of zoledronate. It should be used with caution in patients with a history of inflammatory eye disease or mild ocular symptoms following use of a bisphosphonate. (Endocr Pract. 2011;17:e101-e103)     

Mucinous adenocarcinoma of the ovary metastatic to the eye: report of a case with diagnosis by fine needle aspiration biopsy

BACKGROUND: Metastatic malignancy involving the ocular uveal tract is rare. Approximately one-third of patients will present without a known primary site. This is the ninth reported clinically detected case of ovarian carcinoma metastatic to the eye, the second with mucinous differentiation and the first in which the diagnosis was established by fine needle aspiration (FNA). CASE: A woman developed ovarian mucinous adenocarcinoma metastatic to the choroid layer of the eye. CONCLUSION: FNA is useful in diagnosing lesions of the eye and orbit, including diagnosis of rare metastatic lesions.     

Sinus histiocytosis with massive lymphadenopathy: immunological, cytogenetic and molecular studies

We describe a case of "sinus histiocytosis with massive lymphadenopathy" (SHML) studied by immunohistochemical, cytogenetic and molecular analysis. The immunophenotyping showed that the lymph node histiocytes were strongly positive for the S-100 protein and MoAb LeuM3, OKM5, KP1 and DRC-1; a portion of these cells was also positive for OKT6 and Leu3A, suggesting a possible relationship with the veiled cells, which represent an intermediate step in the pathway from the Langerhans cell to the interdigitating reticulum cell. Cytogenetic analysis showed a normal prevalent clone and a small hypodiploid clone and the molecular study showed no detectable involvement of the c-fms proto-oncogene, which is related to monocyte/macrophages. Unfortunately all these data do not seem sufficient to define the benign or neoplastic nature of the disease. Further investigations, immunophenotypical, cytogenetic and molecular, are needed to elucidate the pathogenesis of the disease, especially for more aggressive cases or for cases with unfavorable evolution.     

Malignant teratoma of the thyroid with predominantly neuroepithelial differentiation. Fine needle aspiration cytologic, histologic and immunocytochemical features of a case

BACKGROUND: Teratoma of the thyroid in adults is extremely rare, and most are malignant. Only nine cases have been adequately documented in the English-language literature, and there are no reports detailing the fine needle aspiration (FNA) cytologic characteristics. CASE: A 32-year-old female presented with a left-sided nodular thyroid mass with left cervical lymphadenopathy. FNA cytology of the thyroid and lymph nodes was done. The cytologic and immunocytochemical features were that of a small round cell tumor with neuroepithelial (NE) differentiation, metastasizing to the cervical nodes. Microscopic study of the thyroidectomy specimen showed a tumor showing an NE pattern with occasional islands of squamous and cuboidal epithelium, leading to a diagnosis of malignant teratoma. CONCLUSION: Knowledge of FNA cytologic features of rare but highly malignant lesions like thyroid teratomas allow early recognition so that suitable and possibly aggressive treatment protocols can be adopted in the hope of prolonging survival.     

Fine needle aspiration (FNA) cytology of Rosai Dorfman disease

deshpande v and verma k. (1998) Cytopathology 9, 329–335
Fine needle aspiration (FNA) cytology of Rosai Dorfman disease
Rosai Dorfman disease (sinus histiocytosis with massive lymphadenopathy (SHML)) is a benign self-limiting disorder that commonly involves the lymph nodes. We reviewed eight cases of this entity aiming to document the cytomorphological features. Of the eight cases, a preoperative diagnosis was suggested in seven cases. Pertinent features included: numerous large histiocytes with prominent emperipolesis (documented by a halo around the cell), fine vacuoles in the cytoplasm and lymphocytes and plasma cells in the background. In some cases the histiocytes showed atypia. In one biopsy-proven case a diagnosis of Hodgkin's was suggested, emphasizing the pitfalls associated with the FNA diagnosis of this lesion.     

Primary intramuscular infestation of Echinococcus granulosus misdiagnosed as a soft tissue tumor: a case report

BACKGROUND: The occurrence of a primary intramuscular infestation of Echinococcus granulosus is extremely rare. CASE: A 70-year-old woman with primary skeletal muscle hydatidosis initially presented with a soft tissue mass. Clinical and radiologic examination revealed a huge cystic mass in the right quadriceps muscle without any visceral organ involvement. Since the differential diagnosis included a soft tissue tumor, fine needle aspiration cytology was performed, and a diagnosis of hydatid disease was made. CONCLUSION: This very rare case of primary intramuscular infestation of E granulosus was clinically misdiagnosed as a soft tissue tumor. Hydatid disease, albeit rare, should be considered in the differential diagnosis of a soft tissue mass.     

Papillary endothelial hyperplasia of the orbit: report of a case highlighting a pitfall on fine needle aspiration biopsy

BACKGROUND: Papillary endothelial hyperplasia (PEH) is an unusual form of thrombus organization that occurs predominantly in the extremities, including the head and neck. However, it is rare in the orbit/ocular region. Although the histologic features of PEH have been well described, the cytologic diagnosis remains difficult. CASE: A 63-year-old man presented with a left intraorbital mass that was increasing in size and associated with paresthesia and a recent history of excision of squamous cell carcinomas (SCC) from his left cheek. Fine needle aspiration biopsy (FNAB) yielded very limited material, predominantly blood. However, 1 Papanicolaou-stained slide showed groups of atypical cells with scanty but dense cytoplasm and large, hyperchromatic nuclei with prominent nucleoli. SCC was favored, and excision was performed. Histology showed PEH within an assumed cystic lymphangioma, associated with inflammatory and fibrotic change in the compressed supraorbital nerve. CONCLUSION: To our knowledge this is the third report on the cytology of PEH and the first report of FNAB in PEH of the orbit. The case was also unusual as it was the second metachronous PEH in the patient.     

Fine needle aspiration cytologic findings in a case of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman syndrome)

The clinical, fine needle aspiration (FNA) cytologic and histologic findings in a case of sinus histiocytosis with massive lymphadenopathy (SHML) in a five-year-old boy are presented. The FNA smears showed a proliferation of plasma cells, lymphoid cells and histiocytes demonstrating emperipolesis that is characteristic of this benign disorder; these cytologic findings were reported as a reactive lymphoid infiltrate with a high content of benign histiocytes. The diagnosis was made on a subsequent open biopsy performed on the persistent lymphadenopathy. The differential diagnosis of lymph nodes containing a prominent component of histiocytes is discussed.     

Visual impairment from fibrous dysplasia in a middle-aged African man: a case report

Introduction

Fibrous dysplasia is a benign tumour of the bones and is a disease of unknown aetiology. This report discusses a case of proptosis and visual deterioration with associated bony mass involving the right orbit.

Case presentation

A 32-year-old Nigerian man of Yoruba ethnic origin presented to the eye clinic of our hospital with right-eye proptosis and visual deterioration of 7-year duration. Presentation was preceded by a history of trauma. Proptosis was preceded by trauma but was non-pulsatile with no thrill or bruit but was associated with bony orbital mass. The patient reported no weight loss. Examination of his right eye showed visual acuity of 6/60 with relative afferent pupillary defect. Fundal examination revealed optic atrophy. Computed tomography showed an expansile bony mass involving all the walls of the orbit. The bony orbital mass was diagnosed histologically as fibrous dysplasia. Treatment included orbital exploration and orbital shaping to create room for the globe and relieve pressure on the optic nerve.

Conclusion

Fibrous dysplasia should be considered in the differential diagnosis of slowly developing proptosis with associated visual loss in young adults.

     

Fine needle aspiration of follicular variant of papillary thyroid carcinoma presenting with pleural effusion: a case report

BACKGROUND: Malignant pleural effusion in association with mesothelioma, bronchogenic carcinoma and breast carcinoma is common, although less frequently reported with other malignancies. We report a follicular variant of papillary thyroid carcinoma (FVPTC), diagnosed on fine needle aspiration cytology (FNAC) of thyroid and lymph nodes and subsequently proved to have metastasized to the pleural cavity. CASE: A 46-year-old man presented with history of breathlessness, thyroid swelling, pleural effusion and bilateral cervical lymphadenopathy. FNAC of the thyroid swelling and the lymph nodes showed features of FVPTC with cervical lymph node metastasis. Pleural fluid examination led to suspicion of pleural involvement by metastatic deposit, confirmed by subsequent pleural biopsy. CONCLUSION: Thyroid malignancies presenting with pleural effusion are rare. In this case, although pleural fluid cytology suggested involvement of pleura, a definitive diagnosis could be rendered only on pleural biopsy. An ancillary aid, such as immunocytochemistry, could have helped establish pleural involvement on routine pleural fluid cytology alone. This case emphasizes the possible existence of rare cases of FVPTC that may be associated with a dismal prognosis. In our case, initial diagnosis of FVPTC could be made only on correlating FNA features of thyroid aspirate with those of lymph node aspirate.     

Nodular sarcoid myositis of skeletal muscle diagnosed by fine needle aspiration biopsy. A case report

BACKGROUND: Symptomatic striated muscle involvement in sarcoidosis is rare. Muscle biopsy is usually required for the diagnosis. Fine needle aspiration biopsy (FNAB) has been successfully used in diagnosing soft tissue lesions. To the best of our knowledge, FNAB of sarcoid myositis has not been reported. CASE: A 31-year-old, black female with a history of sarcoidosis presented with an enlarging, painful, left calf mass. Infected thrombi were suspected. FNAB showed numerous loosely arranged epithelioid histiocytes, multinucleated giant cells and skeletal muscle cells. The overall cytologic picture was that of granulomatous myositis. The cytologic features coupled with the patient's history and magnetic resonance imaging findings suggested sarcoid myositis. Subsequent muscle biopsy showing noncaseating granulomata and negative stains for organisms confirmed the diagnosis of nodular sarcoid myositis. CONCLUSION: Nodular sarcoid myositis can be suggested by FNAB cytology in a patient with a past history of sarcoidosis.     

Kaposi's sarcoma of the thyroid gland in an HIV-negative woman: a case report

BACKGROUND: Kaposi's sarcoma (KS) is a neoplastic disease that affects primarily the skin, but visceral involvement is not uncommon. Most of the cases are seen in AIDS patients and transplant recipients; however, rare HIV-negative cases have also been reported. Involvement of the thyroid is exceedingly rare, with only a fw cases reported, all of them associated with AIDS. CASE: A 45-year-old, black, Haitian woman presented with a slowly enlarging left side of the thyroid. Computed tomography showed multiple thyroid nodules, and there was no uptake of iodine on the nuclear scan. Fine needle aspiration of the lesion was performed. The smears were composed of spindle and plasmacytoid cells, which raised the possibility of medullary carcinoma. The patient underwent left hemithyroidectomy. Histologic examination showed KS in the thyroid. CONCLUSION: We present the first case of KS of the thyroid in a HIV-negative patient. Familiarity with the cytologic features can be useful in making the diagnosis.     

Granulomatous reaction to silicone in axillary lymph nodes. A case report with cytologic findings

BACKGROUND: Silicone lymphadenopathy is a rare complication in patients with breast implants and is often confused with metastases from breast carcinoma. CASE: A 36-year-old female who had undergone bilateral breast augmentation six years earlier was referred for a mass in the left axilla. Fine needle aspiration showed a granulomatous reaction to birefringent material with predominance of foreign body giant cells in a lymphoid background. CONCLUSION: This report illustrates the usefulness of fine needle aspiration in axillary nodes of patients with breast implants in ruling out malignancy and diagnosing implant disruption.     

Cytologic diagnosis of pancreatic tuberculosis in immunocompetent and immunocompromised patients: a report of 2 cases

BACKGROUND: Pancreatic tuberculosis (PT) is a very rare occurrence in the setting of extrapulmonary tuberculosis. It usually occurs as a complication of miliary tuberculosis in immunodeficient individuals, particularly with HIV infections, but isolated involvement in an immunocompetent patient is extremely rare. Pancreatic involvement by tuberculosis in immunocompromised states, such as AIDS, and isolated involvement in immunocompetent patients require a high index of suspicion. Fine needle aspiration cytology under imaging guidance is highly conclusive. CASES: A patient presented with diabetes mellitus and a pancreatic mass clinically diagnosed as pancreatic carcinoma. A second patient, who was HIV seropositive, presented with generalized lymphadenopathy and a pancreatic mass, clinically diagnosed as lymphoma. These were conclusively diagnosed by fine needle aspiration cytology (FNAC) as PT under imaging guidance. After antituberculous therapy the first patient showed a dramatic improvement, whereas the second died; an autopsy was performed. Because of the atypical presentation of PT in immunocompromised and immunocompetent patients, FNAC can be used as a first-line diagnostic intervention. FNAC under imaging guidance is sensitive, specific, rapid and inexpensive. It resolves the diagnostic dilemma and thus avoids major surgery for a clinically diagnosed neoplasm.     

Intraoperative cytologic diagnosis of symptomatic carcinoma (pulmonary small cell carcinoma) metastatic to the pituitary gland: a case report

BACKGROUND: Carcinoma metastatic to the pituitary gland is infrequent and has been reportedly detected in approximately 1% of pituitary surgical cases. It may masquerade as a pituitary adenoma both clinically and radiologically. CASE: A 49-year-old man presented with a 1-month history of severe headache, diplopia and blurred vision. Neurologic examination revealed bitemporal hemianopsia and left sixth nerve palsy. The initial radiologic diagnosis based on magnetic resonance imaging was pituitary adenoma. A biopsy of the lesion was performed. While intraoperative frozen section examination could not completely exclude an "atypical" pituitary adenoma, cytologic touch imprint findings were diagnostic of metastatic small cell carcinoma. Subsequently, additional workup revealed that the patient had a mass lesion in the right lung and right-sided mediastinal lymphadenopathy on chest computed tomography. This was a rare case of pituitary metastasis as the first manifestation of an occult malignancy. CONCLUSION: For intraoperative diagnosis at the time ofpituitary surgery, cytologic imprints can be used reliably to make a diagnosis not only of pituitary adenoma but also of metastatic lesions. It is appropriate in current neuropathology practice that the imprint method be used as the sole modality for intraoperative consultation for pituitary lesions.     

Diagnosis of malignant mesothelioma by fine needle aspiration of a cervical lymph node. A case report

BACKGROUND: Clinically documented distant metastases are rare in mesothelioma and tend to occur late in the course of the disease, well after the diagnosis has been made. In this instance, diagnosis was not made until a metastatic deposit was identified microscopically in the enlarged lymph node. CASE: A 65-year-old male with no definite history of occupational asbestos exposure presented with chest pain, pleural effusion and supraclavicular lymphadenopathy. Cytologic examination of material obtained by fine needle aspiration from his cervical lymph node revealed malignant mesothelioma. This was confirmed on histology. CONCLUSION: This was a particularly rare presentation and, as far as we are aware, was the first case in which mesothelioma was diagnosed by fine needle aspiration of a cervical lymph node. It serves to remind the pathologist that when confronted with a lymph node involved by tumor, the possibility of mesothelioma should be included in the differential diagnosis. The case also demonstrates the usefulness of fine needle aspiration in the diagnosis of metastatic tumor.