Diagnosis Of Spindle Cell Tumors Research Articles

A rare case of atypical intradural extramedullary glioblastoma diagnosed utilizing next-generation sequencing and methylation profiling: illustrative case.

Primary spinal cord tumors, especially primary spinal cord glioblastoma multiforme (PSC-GBM), are exceptionally rare, accounting for less than 1.5% of all spinal tumors. Their infrequency and aggressive yet atypical presentation make diagnosis challenging. In uncertain cases, a surgical approach for tissue diagnosis is often optimal. A 76-year-old male presented with a rapidly progressing clinical history marked by worsening extremity weakness, urinary retention, and periodic fecal incontinence alongside diffuse changes on neuraxis imaging. The patient, in whom subacute polyneuropathy was initially diagnosed, received multiple rounds of steroids and intravenous immunoglobulin without clinical improvement. Histopathological review of the biopsy tissue yielded an initial diagnosis of spindle cell neoplasm. Next-generation sequencing (NGS) is done routinely on all neuropathology specimens at the authors' institution, and methylation profiling is pursued in difficult cases. Ultimately, NGS and methylation profiling results were essential to an integrated final diagnosis of GBM. PSC-GBM is a rare but highly aggressive occurrence of this tumor. Prolonged back pain, rapid neurological decline, and imaging changes warrant the consideration of lesional biopsy for precise disease characterization. In inconclusive cases, NGS has proved invaluable for clinical clarification and diagnosis, underscoring its importance for integrated diagnoses in guiding appropriate treatment strategies.

Histologic Variants of Kaposi Sarcoma in the Gastrointestinal Tract: A Contemporary Multi-institutional Clinicopathologic Analysis of 46 Cases.

Kaposi sarcoma (KS) can pose diagnostic challenges in biopsy specimens. Multiple histologic variants of cutaneous KS have been described; however, the histomorphologic spectrum of gastrointestinal (GI) KS has not been systematically studied. This large series comprehensively evaluated 46 cases of KS involving the GI tract and identified 7 histomorphologic variants, some that have not been previously described. Five of them are inconspicuous but have unique morphologic patterns, including lymphangioma/lymphangiectatic-like (n=17), mucosal hemorrhage/telangiectatic-like (n=17), mucosal inflammation-like (n=15), granulation tissue-like (n=13), and mucosal prolapse-like (n=4) variants. These variants can be easily misdiagnosed or misinterpreted on routine examination if KS is not considered, and if the immunohistochemical stain for human herpesvirus-8 is not performed. The other 2 morphologic variants present as spindle cell proliferations and are the GI stromal tumor-like (n=8) and inflammatory myofibroblastic tumor-like (n=2). These variants raise a broad differential diagnosis of spindle cell tumors of the GI tract and could pose diagnostic challenges. In summary, GI KS lesions exhibit variable, often unconventional histomorphologic patterns. KS should be included in the differential diagnosis even if features of conventional KS are not seen, particularly in limited biopsies in immunocompromised patients, such as those with human immunodeficiency virus infection. Although the clinical significance of these morphologic variants is yet to be determined, they are nonetheless important from a diagnostic standpoint. Misdiagnosis and delay in appropriate management can be avoided by recognizing the morphologic diversity of GI KS and appropriately utilizing the human herpesvirus-8 immunohistochemical stain.

Spindle cell tumors of the pleura and the peritoneum: pathologic diagnosis and updates.

A diverse group of both benign and malignant spindle cell tumors can involve the pleura or the peritoneum. Due to their rarity and overlapping morphologic features, these tumors can pose considerable diagnostic difficulty in surgical pathology. As these tumors differ in their prognosis and clinical management, their correct pathologic diagnosis is critical. In addition to histologic assessment, select immunohistochemical and molecular tools can aid the distinction among these tumors. In this review, we consider some of the major histologic differential diagnosis of spindle cell tumors involving these serosal membranes. This list of tumors includes solitary fibrous tumor, inflammatory myofibroblastic tumor, desmoid fibromatosis, synovial sarcoma, sarcomatoid carcinoma, spindle cell melanoma, dedifferentiated liposarcoma, epithelioid hemangioendothelioma, and sarcomatoid mesothelioma. We describe their salient clinicopathologic and genetic findings, with a review on some of the recent discoveries on their molecular pathogenesis.

A leafy surprise: Case report of male breast malignant phyllodes.

Introduction and importancePhyllodes tumor is a biphasic fibroepithelial tumor which accounts for less than 1% of all breast neoplasms. We aim to raise awareness among clinicians that a male breast lump may be indicative of underlying sinister pathology and therefore, should be investigated thoroughly.Case presentationA 62 year old male presented in clinic with right beast lump for the last 6 weeks. A preoperative diagnosis of spindle cell tumor was made on core needle biopsy. Neoadjuvant chemotherapy was administered in order to downsize the tumor as it was inseparable from underlying muscle. A post-operative diagnosis of malignant phyllodes was made following mastectomy. As the tumor was 1 mm from the deep margin, adjuvant radiotherapy was administered.Clinical discussionDifferential diagnoses of malignant phyllodes include metaplastic carcinomas metastatic/primary sarcomas and fibroadenomas. Metaplastic carcinomas are morphologically heterogeneous and include adenosquamous carcinoma, squamous cell carcinoma and spindle cell carcinoma. In some malignant phyllodes, extensive stromal proliferation can make detection of epithelial component very difficult. This highlights the limitation of core biopsy in establishing an accurate preoperative diagnosis.The standard treatment for phyllodes treatment is surgical resection with margins of 1 cm or more. Adjuvant radiotherapy is used in cases with threatened margins.ConclusionMalignant phyllodes tumor of breast can exist in men, and its accurate pre-operative diagnosis is difficult given the limitations of core biopsy. This case report draws attention to the challenges associated with the diagnosis of this rare condition and highlights the role of different treatment modalities in its management.

Spindle cell neoplasms of the upper gastrointestinal tract, hepatobiliary tract, and pancreas by fine needle aspiration: A single institutional experience of 15 years with follow-up data.

The diagnosis of spindle cell neoplasms (SCN) of the upper gastrointestinal (GI) tract, hepatobiliary tract, and pancreas detected by fine needle aspiration (FNA) is challenging. We describe a single-center experience of these samples with follow-up data and characterization of the morphologic findings. We retrospectively reviewed pathology records for all FNAs diagnostic for or suggestive of SCN on esophagus, stomach, small bowel, liver, and pancreas in a 15 year period. All cases with at least 6 month follow-up were included. Surgical material (biopsy or resection) was the diagnostic gold standard. All FNAs with subsequent surgical specimens were reviewed and assessed for cellularity, architectural features, and nuclear features. In 15 years, 5101 FNAs of the upper GI tract, hepatobiliary tract, and pancreas were performed. SCN was diagnosed in 98 (2%) patients. Seventy-two patients had definitive pathologic diagnoses: 68 were neoplastic and four were non-neoplastic. Cytomorphologic review in relationship to final diagnosis revealed three statistically significant features: low cellularity favors a benign process (P=.00544), epithelioid nuclear morphology favors malignancy (P=.00278), and identification of perinuclear vacuoles favors a diagnosis of GIST over non-GIST SCN (P=.04236). Among cases with follow-up, final pathologic diagnoses were SCN in 94% of cases diagnosed as SCN on FNA of upper GI, hepatobiliary tract, and pancreas. Although some cytomorphologic criteria are more suggestive of malignancy, arriving at a specific diagnosis relies on collaboration of clinical, radiologic, cytomorphologic, and immunohistochemical data.

A Rare Case of Spindle Cell Neoplasm of Rectum

Spindle cell neoplasms usually occur in head, neck, orbit, soft tissues of scalp and along the upper aerodigestive tract. They are relatively uncommon in lower gastrointestinal tract and represent a distinct clinical entity. Increased awareness is required among colorectal surgeons and pathologists due to their benign nature & uncertain etiology, to avoid misdiagnosis of rectal cancer. Definitive diagnosis necessitates immunohistochemical analysis. We present an unusual case of spindle cell neoplasm of rectum in an asymptomatic elderly gentleman, detected on screening colonoscopy. Following thorough evaluation with MRI pelvis, CT scan thorax, abdomen, pelvis with contrast and multidisciplinary meeting discussion (MDT) at our institution, he was successfully treated with a specialized minimally invasive approach (TAMIS). Histopathology with immunohistochemistry confirmed the diagnosis of spindle cell neoplasm. As they are uncommon in colorectum & non-invasive, management and long-term follow-up is still under study. These lesions should be differentiated from other stromal tumours in GIT.

Synovial Cell Sarcoma of the Kidney: A Case Report

Background: Primary renal sarcomas are rare neoplasm that accounts about 1% of malignant renal tumors. Prevelance of primary renal Synovial cell sarcoma is rare and comprise 1-3% of all malignant renal neoplasm. Synovial cell sarcoma overlaps with multiple spindle cell neoplasms affecting the kidney, this need immunohistochemical panel to can diagnose it. This paper reports a case of Renal Synovial cell sarcoma. We report a case of 32 year old female presented with presented by upper pole left kidney swelling. Computarized tomography (CT) revealed a heterogeneous, well marginated soft tissue mass 8x7 cm arising in the upper pole of left kidney with solid necrotic components and heterogeneous enhancement. Left radical nephrectomy was done. Methods: The kidney was excised and gross examination revealed that upper pole of the kidney was replaced completely by grayish tan firm mass with cystic areas measuring 6x6x3 cm in diameter and shows areas of hemorrhage and necrosis. Microscopic evaluation and immunohistochemistry study were performed. Results: The mass was Renal Synovial cell sarcoma. Conclusion: Although Renal Synovial cell sarcoma is rarely diagnosed in kidney but it should be considered in the differential diagnosis of spindle cell tumors affecting the kidney and must be excluded by immunohistochemical studies as it has poor prognosis in the kidney

Follicular dendritic cell sarcoma of the tonsil: A rare entity

Follicular dendritic cells (FDC) are nonlymphoid, nonphagocytic accessory cells in the immune system. They have major roles in antigen presentation and regulation of germinal center reaction. FDC sarcoma is a rare and under-recognized malignancy. Most of the cases are reported in the lymph nodes. The typical morphology is syncytial aggregates of oval/spindly cells with vesicular bland nuclei and small nucleoli. Focal whorling and storiform pattern, multinucleate giant cells, and the presence of small lymphocytes in the background give additional clues for the diagnosis. As spindle cell tumors are rare in the lymph nodes, FDC sarcoma comes under the differential diagnosis of spindle cell neoplasms of the node and an accurate diagnosis is often rendered. However, when the neoplasm occurs in extranodal sites, the diagnosis is often missed because the FDC markers are not routinely used in the immunopanel for undifferentiated neoplasms. Because of its rarity, the extranodal FDC sarcomas pose a great diagnostic challenge and often misdiagnosed initially. Herein, we report a case of FDC sarcoma of the tonsil in a 36-year-old female patient. Biopsy of the lesion showed oval to spindly cells in syncytial sheets and focally in whorled pattern. The individual cells were having plump vesicular nuclei and small nucleoli. Occasional multinucleate cells and sprinkling of lymphocytes within the tumor were also noted. The tumor cells were positive for CD23 and CD35. A diagnosis of FDC sarcoma was given. Greater awareness of the morphologic spectrum of FDC sarcoma and appropriate immunostains for FDC differentiation will help in recognition of this rare neoplasm.

Low-Grade Fibromyxoid Sarcoma of the Head and Neck: A Clinicopathologic Series and Review of the Literature.

Low-grade fibromyxoid sarcoma (LGFMS) is a deceptively bland malignancy with potential for late recurrence and metastasis, which usually occurs in the deep soft tissues of the extremities and trunk. Most LGFMSs harbor a characteristic gene fusion of FUS-CREB3L2, and recently MUC4 immunostaining has been found to be highly sensitive and specific for the diagnosis. We present a dedicated series of head and neck LGFMS, including the first reported laryngeal case, as well as a review of reported head and neck cases. The surgical pathology archives of our three institutions were searched for cases of LGFMS arising within the head and neck, and four cases were identified. The H&E slides were reviewed, and immunohistochemistry were performed for pancytokeratin, p63, p40, EMA, S100 protein, β-catenin, actin, CD34, and MUC4. The patients were 6, 43, 45, and 73 years old (mean 41.8 years) and included three males and one female. The tumors were located in the posterior cervical spine, facial skin, mandible, and larynx. The tumors were treated with surgical excision, and all four had histologic features typical for LGFMS including alternating myxoid and fibrous areas with prominent curvilinear vasculature. All tumors were MUC4 positive (100%), 2/4 (50%) were p63 positive, 1/4 (25%) showed focal EMA positivity; all 4 were negative for pancytokeratin, p40, S100 protein, β-catenin, actin, and CD34. LGFMS is a low grade sarcoma that rarely develops in the head and neck. Due to its rarity, a pathologist may not consider LGFMS in the differential diagnosis of spindle cell neoplasms within the head and neck. Immunohistochemical staining is helpful, but stains should be selected carefully to avoid misdiagnosis.

Epidemiological trends in uveal melanoma

BackgroundThere has been a recent evolution in the management of uveal melanoma in regard to prognostic evaluation and treatment modalities. This study aims to evaluate the epidemiological trends of uveal...

English

Solitary fibrous tumor (SFT) belongs to a group of mesenchymal tumors, first described as a primary spindle cell tumor of the pleura in 1931. Recently, SFT has been reported in various locations with no relation to serosal surface. We describe two such cases in unusual sites of orbit and nasal cavity. Histopathologically, the tumors had a disorganized or patternless arrangement of spindle cells in a collagenous background and prominent vascular channels of varying sizes. Immunohistochemically both tumours showed CD 34 positivity. The two patients had benign clinical course with limited follow-up. SFT should be included in the differential diagnosis of spindle cell tumors arising in the nasal cavity and orbit.

Metastasis of gastrointestinal stromal tumor to skeletal muscle: a case report

IntroductionGastrointestinal stromal tumor is the most common malignant mesenchymal tumor of the gastrointestinal tract. The most common sites of metastasis are the liver and the peritoneum, but gastrointestinal stromal tumors rarely metastasize to the skeletal muscles. Only three cases of gastrointestinal stromal tumor metastasizing to skeletal muscle have been reported in the English literature. Here we present an additional case of skeletal muscle metastasis, and the relevant literature is reviewed.Case presentationA 54-year-old Japanese man presented with a three-month history of an enlarging mass of the left buttock. An excisional biopsy was performed and the tumor was diagnosed as a leiomyosarcoma. However, careful examination of the gastrointestinal tract revealed a tumor located in the small intestine. Surgical resection of the small intestine tumor was performed; histopathological and immunohistochemical examinations identified it as a primary gastrointestinal stromal tumor arising from the small intestine. Despite receiving both chemotherapy and molecular-targeted therapy, our patient died of gastrointestinal bleeding six months after the initial diagnosis.ConclusionsBecause it is a mesenchymal tumor, it is difficult to distinguish a gastrointestinal stromal tumor metastasis to skeletal muscle from other primary soft tissue sarcomas. Although metastasis of gastrointestinal stromal tumor to skeletal muscle is rare, the likelihood of finding metastases in these unusual sites is increasing due to prolonged survival of patients with gastrointestinal stromal tumor after the introduction of imatinib therapy. We should include metastases of gastrointestinal stromal tumors as differential diagnosis of spindle cell tumor, and it is necessary to begin appropriate treatment early.

Spindle cell lipoma of the mandibular mucogingival junction: a case report of unusual oral neoplasm

Spindle cell lipoma (SCL) is a benign lipomatous neoplasm typically located in the posterior neck and back of older males. It presents as a well-circumscribed mass in the buccal mucosa, tongue, floor of the mouth or hard palate. There are only two case reports of SCL in the gingiva and alveolar ridge. Here, we report a case of SCL in the mandibular mucogingival junction of a 68-year-old male. Clinical, histopathological and immunohistochemical findings are presented. Although oral SCL is rare, it should be considered in the differential diagnosis of spindle cell neoplasms occurring in the oral cavity.

Intrarenal cellular schwannoma

Schwannomas are tumours arising from the nerve sheath. Renal schwannomas are extremely rare and have non-specific symptoms and limited radiological features. They are often diagnosed histologically after surgical excision. Cellular schwannoma is a rare variant of schwannoma, characterised by almost entirely Antoni A pattern growth and absence of verocay bodies. They may be confused with sarcomatoid renal cell carcinoma, malignant peripheral nerve sheath tumours, angiomyolipoma, leiomyoma and mesoblastic nephroma of the adult type. Recognition and awareness of these rare, benign tumours will assist in the differential diagnosis of spindle cell tumours of the kidney. Predilection for the cellular variant to occur on this site may result in a misdiagnosis of the relatively more commonly occurring sarcomatoid renal cell carcinoma. This is a case of cellular intrarenal schwannoma which was diagnosed by histopathology post-radical nephrectomy. Schwannomas are tumours arising from the nerve sheath. Renal schwannomas are extremely rare and have non-specific symptoms and limited radiological features. They are often diagnosed histologically after surgical excision. Cellular schwannoma is a rare variant of schwannoma, characterised by almost entirely Antoni A pattern growth and absence of verocay bodies. They may be confused with sarcomatoid renal cell carcinoma, malignant peripheral nerve sheath tumours, angiomyolipoma, leiomyoma and mesoblastic nephroma of the adult type. Recognition and awareness of these rare, benign tumours will assist in the differential diagnosis of spindle cell tumours of the kidney. Predilection for the cellular variant to occur on this site may result in a misdiagnosis of the relatively more commonly occurring sarcomatoid renal cell carcinoma. This is a case of cellular intrarenal schwannoma which was diagnosed by histopathology post-radical nephrectomy.

Low grade endometrial stromal sarcoma presenting as a cervical polyp in a young female: A rare case report

Endometrial stromal sarcomas ESS are rare malignant mesenchymal tumors that usually develop in the uterus in perimenopausal women. The report describes a rare extra uterine low grade ESS presenting as a cervical polyp in a young female for which local tumor resection was performed. Histological examination revealed a spindle cell tumor. The diagnostic challenge was to differentiate ESS from cellular leiomyoma and other spindle cell tumors for which immunohistochemistry was carried out. The case report highlights that ESS is to be included in the differential diagnosis of spindle cell tumor in cervix even though rare. We also discuss the differential diagnosis of cervical polypoidal lesions.

Diagnosis of a gastrointestinal stromal tumor presenting as a prostatic mass: a case report.

Gastrointestinal stromal tumors (GISTs) are an unusual and heterogeneous group of spindle cell tumors that can also appear on the exterior of the gastrointestinal tract (extra-GISTs). Despite the fact that extra-GISTs or large rectal GISTs can lead to the clinical impression of a prostatic mass, these tumors are, in general, excluded in the differential diagnosis of spindle cell tumors observed on prostate needle biopsy. Here, we present, in detail, a case of an extra-GIST identified on prostatic biopsy; the tumor was previously believed to be a primary prostatic stromal sarcoma in the differential diagnosis. Every investigator should check for KIT (CD117) in immunohistochemical staining to rule out an extra-GIST prior to diagnosing a solitary prostatic tumor, specialized prostatic stromal tumor, or leiomyosarcoma on prostate needle biopsy.

Diagnosis of Spindle Cell Neoplasms of the Gastrointestinal Tract by Fine Needle Aspiration

Diagnosis of Spindle Cell Neoplasms of the Gastrointestinal Tract by Fine Needle Aspiration

An Unusual Case of Primary Hepatic Leiomyosarcoma

Purpose: Primary hepatic leiomyosarcoma is exceedingly rare and only few cases have been reported in literature. Presentation is usually nonspecific and diagnosis is often delayed until tumors reach a large size. This leads to a dismal prognosis. The tumors are not yet fully understood hence standard of care not yet well defined. Case Presentation: A 51-year-old male patient presented to the hospital with intractable hiccups, poor oral intake and 20 pounds weight loss. He denied abdominal pain, nausea, vomiting or irregular bowel habits. His comorbidities included seizure disorder and hypertension. He had no history of liver disease or alcohol abuse. On physical examination he appeared cachectic. Abdominal examination revealed a hepatomegaly of about 6cm below the right costal margin. Laboratory analysis revealed alanine aminotransferase 81 IU/L (0-34 IU/L), aspartate aminotransferase 56 IU/L (0-40 IU/L) and alkaline phosphatase 160 IU/L (28 -94 IU/L), serum albumin 2.8 g/dl (3.4 -5 g/dl). Serum bilirubin prothrombin time, white blood cells, platelets and α-fetoprotein were normal. Antibody to hepatitis C and hepatitis B surface antigen were negative. Abdominal computed tomography showed a hypodense rim enhancing 3.5 cm by 2.5 cm lesion with a necrotic center within segment VI of the liver. A CT guided biopsy of the lesion revealed a tumor comprised of spindle cells arranged in interlacing pattern. There was minimal nuclear pleomorphism, tumor necrosis and no increase in mitotic activity. Immunomarker stains were positive for smooth muscle actin but negative for desmin, CD117 and CD34. These pathological features were consistent with a diagnosis of spindle cell neoplasm, low grade leiomyosarcoma involving the liver. Discussion: Hepatic tumor of mesenchymal origin is rare, accounting for only 1.2% of all primary hepatic tumors. The most common type of primary malignant mesenchymal tumor is angiosarcoma (36%) followed by leiomyosarcoma, fibrosarcoma and unspecified sarcoma. Most of hepatic leimyosacoma are metastatic from other sites of leiomyosarcoma including gastrointestinal tract, uterus, retroperitoneum and lung. Liver function tests are usually variable while carcinoembryonic antigen and α-fetoprotein are normal. Cut surface of the liver is often pinkish-white with yellow areas of necrosis or dark red hemorrhagic foci. Mean survival of untreated hepatic leiomyosarcoma is dismal (about 10 months). Surgical excision appears to prolong survival however chemotherapy is the alternative therapy for inoperable patients. In conclusion we present a rare case of primary hepatic leiomyosarcoma. Prognosis is poor and clinical diagnosis is challenging in cases of small tumors.

32. Primary synovial sarcoma of the mediastinum

Background Synovial sarcoma is a malignant soft tissue neoplasm which predominantly occurs in the extremities of adolescents and young adults. However, it is extremely rare in the mediastinum. Case report A 30-year-old man with an unremarkable past medical history presented with 2 months history of left posterior chest wall pain, malaise and exertional dyspnoea. The CT scan showed a left-sided large mediastinal mass displacing the left kidney anteriorly. Clinically, a germ cell tumour or thymoma was suspected. A CT-guided fine needle aspiration biopsy showed relatively uniform plump spindle cells arranged in loosely cohesive tissue fragments, many of which contain capillary cores. The cells had bipolar pale cytoplasm, ovoid nuclei and small nucleoli. The diagnosis of spindle cell neoplasm was favoured. The core biopsy showed a spindle cell tumour with hyperchromatic nuclei and inconspicuous nucleoli. The cells were uniform with scant mitotic figures. The tumour cells were positive for EMA, CD99 and BCL-2. Staining for keratin, CD31/CD34, CD3, CD20, SMA, P63, S100, HMB45 were negative. FISH using the SS18 18q11.2 break apart probe showed a rearrangement in the majority of tumour cells, consistent with synovial sarcoma. Conclusions Although its occurrence is rare, synovial sarcoma should be considered in the differential diagnosis of spindle cell neoplasms of the mediastinum. The distinction can be challenging, especially on a small biopsy or fine needle aspiration biopsy specimens alone, however the use of immunohistochemistry and molecular cytogenetics has enabled confirmation of the diagnosis in more than 90% of the cases.

Malignant solitary fibrous tumor in the extremity: Cytopathologic findings

Malignant solitary fibrous tumor (SFT) is an extremely rare neoplasm. There are only rare published accounts of the cytopathologic features of this tumor. We report a case of a 59-year-old woman presented with a 10-year history of a right thigh mass. A preoperative fine needle aspiration (FNA) was performed. Smears were hypercellular, with cohesive and crowded tissue fragments, haphazard cell arrangements and many single cells. The tumor cells were polymorphous, plump spindled or round with often indented or bare nuclei. A differential diagnosis of low grade sarcoma was favored. The diagnosis of malignant SFT is extremely difficult on FNA and must be included in the differential diagnosis of spindle cell neoplasms.