Genomic analysis of metastatic rhabdomyosarcoma masquerading as acute leukemia

Blast appearing cells in the peripheral blood and bone marrow may occasionally arise from non-hematopoietic tissues. We present a 58 year old female who presented at our emergency room with symptomatic pancytopenia. Several months earlier she was diagnosed and treated for rhabdomyosracoma of the nasopharynx and entered remission. When we examined the bone-marrow aspirate we estimated the number of blasts at 25 %. Based on this evaluation, a provisional diagnosis of acute leukemia was made. However, immunohistochemistry and flow cytometry analysis revealed that the cells presumed to be blasts were in fact rhabdomyosarcoma cells masquerading as leukemia. The mutational landscapes of the primary tumor and the bone marrow metastasis had similar yet distinct profiles. Annotation analysis suggested that the primary and metastatic tumors use alternate mutations to activate the RAS/AKT signaling pathways. In this case, looking beyond the mutational profiling revealed an additional layer of similarity between both the original and metastatic samples, exposing a common and possibly targetable pathway. Application of annotation tools in clinical practice could enable extraction of valuable information from somatic mutational gene panels.     

Histoplasmosis masquerading as tuberculosis: a case report

Histoplasmosis is not reported very commonly from India. We report a patient in whom the presenting feature was persistent leucopenia and hepatosplenomegaly and was treated as a case of disseminated tuberculosis. At autopsy, this patient showed all features of progressive disseminated histoplasmosis.     

Plasma cell leukemia masquerading as ALL-L3--a case report

Plasma cell leukemia (PCL) is a rare type of plasma cell dyscrasia. It is diagnosed when circulating plasma cells (PC) are more than 20%. We present a case of PCL in a 62-year-old female. Peripheral smear revealed more than 80% atypical vacuolated plasma cells (Mott cells) almost mimicking Burkitt cells of Acute Lymphoid Leukemia-L3 (ALL-L3). Bone marrow aspirate revealed few mature myeloma cells for which a diagnosis of PCL was thought of. Serum electrophoresis showed a positive M-band and X-ray revealed lytic lesions over femur & pelvic bones. A final diagnosis of PCL was given.     

Fanconi anemia presenting as acute myeloid leukemia: a case report

Fanconi anemia is an autosomal recessive disorder characterized by phenotypic abnormalities, increased chromosomal breaks and predisposition to various hematological and non-hematological malignancies. We present case report of a paediatric patient with Fanconi anemia presenting as acute myeloid leukemia. The presence of dysplastic features in this marrow suggests the possibility of a prior stage of myelodysplasia progressing to leukemia.     

Cervical chordoma masquerading as a thyroid neoplasm: a case report

Chordomas are rare neoplasms of notochord derivation that arise along the craniospinal axis. Their incidence along the cervical spine and close proximity to the thyroid can pose diagnostic pitfalls. We report a case of a paraspinal mass juxtaposed adjacent to the thyroid with intranuclear inclusions of papillary carcinoma, abundant eosinophilic cytoplasm of an oncocytic lesion, and pleomorphism of anaplastic carcinoma that expressed thyroglobulin and emulated a malignant thyroid neoplasm. However, subsequent histological examination revealed a chordoma with perithyroidal soft-tissue invasion. This case highlights the significance of including chordoma in the differential diagnosis of a thyroid neoplasm and interpreting thyroglobulin reactivity warily, because its inadvertent tracking during fine-needle aspirates (FNAs) can produce false positive staining of nonthyroidal cells.     

Plasma cell leukemia presenting as acute renal failure: a case report

Plasma cell leukemia is a rare form of malignant plasma cell dyscrasia. It can occur as a primary form without prior evidence of multiple myeloma or as a secondary form which is a terminal event in multiple myeloma. A case of primary plasma cell leukemia presenting as acute renal failure is reported here.     

Primary pulmonary rhabdomyosarcoma: a case report

We report a case of primary pulmonary rhabdomyosarcoma in a 52-year-old woman. The diagnosis was established after radical right pneumonectomy, mainly based on immunohistochemistry and electron microscopy findings. This type of tumor is rare in adults. Its primary origin is suggested when a pulmonary meta-stasis of rhabdomyosarcoma from another site or a component of a mixed tumor are ruled out. The best treatment is surgery. The prognosis is poor.     

Isolated intracranial Rosai Dorfman disease masquerading as meningioma: a case report

Isolated intracranial Rosai Dorfman disease (sinus histiocytosis with massive lymphadenopathy) is rare. We present a 26-year-old male who presented with left focal motor seizures becoming secondarily generalized of one-year duration. Clinically and radiologically patient was diagnosed to have a right parietal convexity meningioma. However on histopathological examination a final diagnosis of intracranial Rosai Dorfman disease was rendered.     

Encephalopathy as a presentation of pediatric AIDS: case report

Fifty to ninety percent of pediatric AIDS cases are complicated by neurologic dysfunction. We present a case of a 5-year-old black female with AIDS encephalopathy and Mycobacterium avium intracellulare. Her initial presentation was that of neuroencephalopathy with loss of developmental milestones, pyramidal tract signs, and subsequent evidence of cortical atrophy. Her initial CT scan at the time of frank encephalopathy was normal, whereas 18 months into the clinical course of her encephalopathy, her CT scan of the head demonstrated typical ventricular dilatation and severe cortical atrophy consonant with her clinical picture. She subsequently developed Mycobacterium avium intracellulare documented by gastric aspirate culture and other opportunistic infections including Candida esophagitis. Her neuroencephalopathy plateaued with continued evidence of immune dysfunction and mycobacterium by gastric aspirate, despite triple antibiotic therapy with INH, streptomycin, Pyrazinamide with later addition of Rifampin and final substitution of the investigational congener Rifabutin. AIDS encephalopathy and Mycobacterium intracellulare are discussed in terms of their prognosis and therapy, particularly in view of new reports of the application of AZT and immunoglobulin therapy.     

FNAB cytology of chordoma masquerading as adenocarcinoma: case report

We report a lesion of the mobile spine in a 77-yr-old white male who presented with lower back pain, radiating bilaterally to the legs, with numbness on walking and standing. Magnetic resonance imaging showed a large mass within L3-L4 vertebral bodies; however, chordoma was not suspected or suggested. Fine-needle aspiration biopsy (FNAB) of the mass revealed mostly blood with isolated flat clusters of polygonal rounded epithelial-like cells in a myxoid background. Immunohistochemistry could not be performed on the FNAB specimen due to inadequate material for cell-block. A limited immunocytochemistry panel was performed on one cytology smear. The tumor cells were immunoreactive for cytokeratin. During primary and expert evaluation, these features were interpreted as metastatic adenocarcinoma. Prostate and thyroid were suggested as possible primary sites. An extensive clinical and radiological search did not reveal a primary lesion. Four years later, the patient underwent surgical decompression and stabilization of his lumbar spine to avoid a catastrophic collapse of spine with neurological deficit. Histomorphological features and immunohistochemical studies at this time confirmed the lesion as chordoma. This case highlights the significance of considering chordoma in the differential diagnosis of FNAB cytology of spinal column lesions suggestive of adenocarcinoma, especially when the clusters of low-grade epithelioid cells with vacuolated cytoplasm in a myxoid background do not show epithelial structures such as papillae, glands, or acini.     

喉多形性横纹肌肉瘤一例

患者男,32岁。因“声嘶2年,加重半年”于2005年11月6日入院。外院行喉镜活检示“恶性肿瘤”。喉镜示左侧披裂可见2cm×2cm大小实性肿物,遮盖左侧梨状窝,表面光滑。CT示喉咽部左后侧壁肿块影,向腔内突出,咽腔左侧变窄（图1）。术中见肿物位于环状软骨板后上方,似有包膜,表面喉黏膜光滑,肿物向下达环状软骨下缘,向对侧已越过中线,向前未达会厌。行全喉切除术加双侧颈部清扫。[第一段]     

Epithelioid schwannoma of the facial nerve masquerading as pleomorphic adenoma: A case report

Schwannomas arising in the parotid gland or peri‐parotid region is frequently misdiagnosed as pleomorphic adenoma on cytologic preparations. The epithelioid variant of schwannoma is particularly susceptible to misdiagnosis because this neoplasm typically has epithelioid and spindled cells, which are associated with fibrillar stroma and mimic the epithelial, myoepithelial, and stromal components of a pleomorphic adenoma. Preoperative diagnosis of schwannoma is critical in order to plan appropriate management and to avoid inadvertent injury to the associated nerve during surgical resection. Thus, awareness of the distinct clinical, radiological, and cytomorphological features of schwannoma is important in order to guide clinical management. If the cytomorphological features are equivocal, immunohistochemical staining may provide a valuable alternative for distinguishing between pleomorphic adenoma and schwannoma. Diagn. Cytopathol. 2014;42:58–62. © 2013 Wiley Periodicals, Inc.     

Intraosseous rhabdomyosarcoma of the mandible: a case report

Rhabdomyosarcoma is the most common soft-tissue sarcoma of the head and neck region in children and adolescents. Oral cavity involvement is relatively uncommon, with tongue, soft palate, hard palate, and buccal mucosa being the sites of predilection. This report presents a rare case of intraosseous oral rhabdomyosarcoma arising in the mandibular bone of a 6-year-old child. Clinical, radiologic, and histopathologic features and possible pathogenesis are discussed.     

Ulcerative post-kala azar mucosal leishmaniasis masquerading as a carcinoma--a case report

Post kala-azar mucosal leishmaniasis (PKML) is relatively rare in the Indian subcontinent. We describe an ulcerative variant of PKML with nasal involvement in a Nepalese adult male. He had ulcerated plaque over the upper lip with extensive involvement of nasal columella and septum. He came from endemic area for kala-azar and had a previous history of kala-azar. There were plenty of LD bodies in microsections and FNA of submandibular lymph node.     

Cytologic diagnostic pitfall of dermatofibrosarcoma protuberans masquerading as primary parotid tumor: A case report

We report the cytology of a rare case of dermatofibrosarcoma protuberans (DFSP) involving the parotid region. Our patient was a 55‐year‐old female who presented with a swelling in the right parotid region, which was clinically interpreted as a “recurrent parotid tumor.” Fine needle aspiration revealed a moderate cellular yield with spindle cell component, seen discretely as well as, embedded loosely within a fibrillary magenta matrix. A few cellular spindle cell fascicles and several discrete, naked, spindly nuclei were also noted. Neoplastic cells exhibited a minimal pleomorphism with a relatively bland chromatin and inconspicuous nucleoli. A differential diagnosis of the benign spindle cell tumor/low, or intermediate grade myxoid, spindle cell sarcomas was considered. Owing to its clinical presentation simulating a parotid tumor, possibility of “spindle cell myoepithelioma” was suggested. However, histopathologic examination with immunohistochemistry showed it to be a DFSP. A precise diagnosis of DFSP is not always possible on cytology alone. Owing to its location, as well as the spindle cell morphology, DFSP occurring in the parotid region is likely to be mistaken for a spindle cell myoepithelioma, in which case, an appropriate panel of immunomarkers is required for resolving the diagnostic dilemma. Diagn. Cytopathol. 2009. © 2009 Wiley‐Liss, Inc.     

Primary squamous cell carcinoma of the renal pelvis masquerading as pyonephrosis: a case report

Squamous cell carcinoma of the renal pelvis is a rare tumor, which is usually associated with nephrolithiasis. It is rarely associated with pyonephrosis. We report the case of a 69-year-old man who presented with features of pyonephrosis and underwent nephrectomy. The postoperative histological evaluation revealed an unsuspected squamous cell carcinoma of renal pelvis with a concomitant pyonephrosis. The rarity of this tumor in the absence of renal calculi and its association with pyonephrosis is highlighted.     

Granular-cell tumor of trachea masquerading as Hurthle-cell neoplasm on fine-needle aspirate: a case report

We report on a case of extraluminal tracheal granular-cell tumor which was interpreted as a Hurthle-cell neoplasm of the thyroid on fine-needle aspirate. Review of the literature reveals only one other such case. The patient was a 35-yr-old female who presented with an enlarged thyroid. Aspiration cytology revealed a syncytium of cells with abundant granular cytoplasm interpreted as a thyroid follicular neoplasm with Hurthle-cell change. However, histology of the resection specimen with immunohistochemistry confirmed it as a granular-cell tumor. The cytologic differential diagnosis of neoplasms with oncocytoid cytoplasm in and around the thyroid should include granular-cell tumor of the trachea.     

Primary relapse of acute lymphoblastic leukemia in a cervical smear: a case report

Uterine cervix and corpus are rarely the initial site of relapse in leukemia or lymphoma. We report herein a case of uterine cervical relapse with B-cell acute lymphoblastic leukemia (ALL). The patient, a 60-yr-old woman, had a history of ALL that had been in remission for 2 yr after chemotherapy. She presented with a chief complaint of genital bleeding. In a routine cervico-vaginal Papanicolau smear, abundant atypical lymphoid cells with round-to-oval nuclei, scant cytoplasm, and high nuclear to cytoplasmic ratios was observed. The nuclei of these cells had fine and dark chromatin and thickened nuclear membranes, with one or several nucleoli being visible. Biopsy under colposcope was performed, and a diagnosis of relapse of ALL was confirmed. The ongoing genital bleeding presented a problem with clinical management of the patient. It was decided to proceed with hysterectomy to end that problem and thereafter proceed with therapy directed against the leukemia. Our results suggest that in patients with known extrauterine cancer, the presence of malignancy in uterine cellular samples provides information regarding the extent of the neoplasm.