Rare Primary Tumor Research Articles

Squash smear and fine needle aspiration features of conventional chordoma.

Chordoma is a rare primary central nervous system tumour of notochordal origin. Proper intraoperative or preoperative diagnosis of this entity is crucial for appropriate surgical management. The most common histopathological subtype is conventional chordoma. Cytological characteristics of this subtype are quite distinctive and the diagnosis can be easily made by cytology. There are two particularly important features that are observed in both squash smear and fine needle aspiration specimens: an abundant myxochondroid stroma and cells with large vacuoles, including physaliferous cells. The main differential diagnosis is conventional chondrosarcoma, but in problematic cases immunohistochemical studies are useful to establish the correct diagnosis.

Case report of pleuropulmonary blastoma: The heterogenous features of a rare primitive neoplasm of the thorax

Introduction: Pleuropulmonary blastoma (PPB) is a rare primary neoplasm of the thorax frequently diagnosed in early childhood. Pleuropulmonary blastoma arises from primitive intrathoracic mesenchyme—either pulmonary and pleural, or both. Patients with pleuropulmonary blastoma usually present with respiratory symptoms and are often misdiagnosed as pneumonia in the early clinical course. Pleuropulmonary blastoma can be further classified into types I, II, and III based on histological components. Such histological distinctions have significant implications for the treatment of these lesions as well as prognosis. Currently, the treatment of pleuropulmonary blastoma is surgical resection with or without chemotherapy, based on the histological type. Case Report: We highlight the histopathological presentation of pleuropulmonary blastoma in a 3-year-old male who presented with nonspecific symptoms. After identifying an intrathoracic mass on imaging, frozen section demonstrated primarily mature cartilaginous tissue without rhabdomyosarcomatous differentiation or anaplasia. Surgical resection specimens, however, contained small areas of proliferating spindle cells with skeletal muscle features as well as primitive blastema-like cells. Following ancillary testing, the patient was diagnosed with a type II PPB. Conclusion: This case illustrates the challenges of using frozen sections to diagnose heterogenous neoplasms such as PPB. The histologic features of this patient’s tumor identified on frozen section were largely mature and benign-appearing. Only when considering the histology of the surgical specimens in combination with immunohistochemistry and gross morphology, we were able to make an accurate assessment about the type of PPB and corresponding prognosis and treatment plan. Therefore, we urge pathologists to consider PPB for large thoracic masses in pediatric patients.

Giant cell tumor of soft tissue: A case report

Giant cell tumor of soft tissue (GCT-ST) is a rare primary neoplasm of soft tissues. It usually involves superficial and deeper soft tissues of upper and lower extremities, followed by trunk. A 28-year-old female, presented with a painful mass in left abdominal wall for three months. On examination, it measured 4×4cm with ill-defined margins. CECT showed ill-defined enhancing lesion deep to muscle planes with possible invasion of peritoneal layer. Histopathology showed multinodular architecture with intervening fibrous septa and metaplastic bony tissue encasing the tumor. Tumor composed of round to oval mononuclear cells and osteoclast like multinucleated giant cells. Mitotic figures were eight per hpf. A diagnosis GCT-ST of anterior abdominal wall was made. Patient was treated with surgery followed by adjuvant radiotherapy. Patient is disease free at one year follow up. These tumors mostly involve extremities and trunk and usually presents as a painless mass. Clinical features depend upon the exact location of the tumor. Common differential diagnosis includes tenosynovial giant cell tumors and malignant giant cell tumors of soft tissue and GCT of Bone. Diagnosis of GCT-ST is difficult on cytopathology and radiology alone. Histopathological diagnosis should be done to rule out the malignant lesions. Complete surgical resection with clear resection margins is the mainstay of treatment. Adjuvant radiotherapy should be considered in case of incomplete resection. Long follow-up is necessary for these tumors as local recurrence and risk of metastasis cannot be predicted.

Targeting mTOR Pathway in PTEN Deleted Newly Isolated Chordoma Cell Line.

Chordomas are rare primary malignant tumours of notochordal origin usually arising along the axial skeleton with particular predilection of the skull base and sacrococcygeal region. Albeit usually slow-growing, chordomas can be aggressive mostly depending on their invasive behaviour and according to different histotypes and molecular alterations, including TBXT duplication and SMARCB1 homozygous deletion. Partial or complete PTEN deficiency has also been observed. PTEN is a negative regulator of the Akt/mTOR pathway and hyperactivation of Akt/mTOR in cells lacking PTEN expression contributes to cell proliferation and invasiveness. This pathway is targeted by mTOR inhibitors and the availability of in vitro models of chordoma cells will aid in further investigating this issue. However, isolation and maintenance of chordoma cell lines are challenging and PTEN-deleted chordoma cell lines are exceedingly rare. Hereby, we established and characterized a novel human PTEN-deleted chordoma cell line (CH3) from a primary skull base chordoma. Cells exhibited morphological and molecular features of the parent tumour, including PTEN loss and expression of Brachyury and EMA. Moreover, we investigated the activation of the mTOR pathway and cell response to mTOR inhibitors. CH3 cells were sensitive to Rapamycin treatment suggesting that mTOR inhibitors may represent a valuable option for patients suffering from PTEN-deleted chordomas.

Is more better? Increased doses of high dose methotrexate and addition of rituximab is associated with improved outcomes in a large primary CNS lymphoma cohort.

Primary central nervous system lymphoma (PCNSL) is a rare and aggressive primary brain tumor. While high dose methotrexate (HDMTX) regimens remain standard of care, it remains unclear if optimization of HDMTX doses and the addition of rituximab provide clinical benefit. Over the last 30 years, standard care given at Memorial Sloan Kettering Cancer Center (MSKCC) has evolved, allowing the comparison of patients receiving different numbers of HDMTX doses and those treated with and without rituximab. The purpose of this study was to describe outcomes based on treatment pattern changes. This single-center, retrospective, IRB-approved study at MSKCC included patients with immunocompetent PCNSL, age ≥18 years and diagnosed between 1/1983-12/2017. Overall survival (OS) was modeled from date of last HDMTX for analyses associating HDMTX and OS. Multivariable Cox regression models estimated hazard ratios (HR) and corresponding 95% confidence intervals (CI). There were 546 patients identified with newly diagnosed PCNSL. Median overall survival (mOS) of the entire population was 4.7 years (95% CI: 3.8-5.7 years); 3.3 years (95% CI: 2.7-3.9 years) in patients diagnosed prior to 2006 and 8.1 years (95% CI: 6.6-11.1 years) in patients diagnosed 2006 onwards. Patients receiving ≥6 doses of HDMTX had improved survival compared to those receiving <6 doses of HDMTX (mOS: 7.8 vs. 4.3 years; P=0.001). Patients receiving induction rituximab had improved OS compared to those who did not receive rituximab (mOS: 10.5 vs. 3.2 years; P<0.0001). Patients receiving ≥6 doses of HDMTX and rituximab had greatest mOS at 13 years, with a 70% reduction in death (HR =0.30; 95% CI: 0.19-0.47) adjusting for treatment era, sex, and recursive partitioning analysis (RPA) classes comprising age and karnofsky performance score (KPS). OS for PCNSL has improved significantly over the last few decades. Patients seem to benefit with ≥6 doses of HDMTX and the addition of rituximab, an effect independent of treatment era, age, and KPS.

Sclerosing epithelioid mesenchymal neoplasm of the pancreas: case report and literature review of a new and rare entity

A diverse range of benign and malignant primary neoplasms are described in the pancreas. More commonly encountered pancreatic neoplasms display ductal, acinar and neuroendocrine differentiation. Other rarer tumours including solid pseudopapillary neoplasm are also well described in the literature. Recently a very rare primary pancreatic tumour, with a distinctive histopathological appearance that does not conform to previously defined epithelial and mesenchymal entities, has been reported in the literature.

Surgical treatment of spinal tenosynovial giant cell tumor: Experience from a single center and literature review.

Spinal tenosynovial giant cell tumor (TGCT) is a rare benign primary spinal tumor with aggressive behavior. The treatment strategy and prognosis of spinal TGCT remain unclear. This retrospective study aimed to evaluate the effectiveness of surgical treatment of spinal TGCT. We enrolled 18 patients with spinal TGCT who underwent surgical treatment in our hospital between January 2002 and January 2021. Additionally, we reviewed 72 cases of spinal TGCT with surgical treatment reported in the previous literature. Therefore, a total of 90 cases of spinal TGCT were evaluated for their clinical characteristics, surgical details, radiotherapy, and prognosis. In terms of the extent of resection, 73 cases (81.1%) underwent gross total resection (GTR), and 17 cases (18.9%) underwent subtotal resection (STR). Regarding the technique of GTR, 12 cases (16.7%) underwent en bloc resection, while 60 cases (83.3%) underwent piecemeal resection. During a median follow-up duration of 36 months (range: 3-528 months), 17.8% (16/90) cases experienced local recurrence/progression. The local recurrence/progression rate in cases that underwent GTR was 8.2% (6/73), which was significantly lower than that in cases with STR (58.8%, 10/17) (p<0.001). The local recurrence/progression rate of en bloc resection was 8.3% (1/12), and that of piecemeal resection was 8.3% (5/60). Twelve cases underwent perioperative adjuvant radiotherapy, and one (8.3%, 1/12) of them showed disease progression during follow-up. Six recurrent/progressive lesions were given radiotherapy and all of them remained stable in the subsequent follow-up. Eight recurrent/progressive lesions were only treated with re-operation without radiotherapy, and half of them (50.0%, 4/8) demonstrated repeated recurrence/progression in the subsequent follow-up. Surgical treatment could be effective for spinal TGCT cases, and GTR is the preferred surgical strategy. Piecemeal resection may be appropriate for spinal TGCT cases with an acceptable local recurrence/progression rate. Perioperative adjuvant radiotherapy may reduce the risk of postoperative local recurrence/progression, and radiotherapy plays an important role in the treatment of recurrent/unresectable spinal TGCT lesions.

A Rare Case of Chondromyxoid Fibroma of Calcaneum: A Case Report

Chondromyxoid fibroma is a rare benign Primary tumour occurring in the calcaneum. We report a case of a 23-year-old woman with 3 months history of sudden onset right heel pain with no history of trauma. Which was exacerbated by movement such as walking and standing. A radiographic examination of the right foot and ankle revealed a lesion in the posterior part of the calcaneum. The calcaneum was further evaluated using an MRI scan which revealed a lytic lesion with clearly defined borders. The lesion was treated with curettage, iliac bone grafting, and cementing. Three months after surgery, the graft was consolidated with bone cement in place. There was no sign of recurrence at the one-year follow-up, and the patient had adequate ankle range of motion. Even though the tumour is rare, there is a need for physicians to recognize its radiological features and offer appropriate treatment options. Keywords: Chondromyxoid fibroma, Lytic lesion, Benign primary tumour

An Unusual Case of Cervical Rib Tumor Presenting as Thoracic Outlet Syndrome

Thoracic outlet syndrome (TOS) is a complex clinical entity with a group of diverse disorders caused by multiple factors that compress the brachial plexus, subclavian artery, and subclavian vein. Among all the causes, a tumor in that region causing TOS is a very rare cause. Here, we present the case of a 21-year-old girl with right cervical rib osteoblastoma (OB) presenting as TOS, with direct compression of the brachial plexus and subclavian artery. OBs are rare primary bone tumors and origin from cervical bone is unheard. To our knowledge, this is the first case of a cervical rib OB mimicking as NTOS, and we share our experiences and challenges in managing this case more so due to the rarity of case and paucity of data in the literature.

Fibrolamellar hepatocellular carcinoma presenting as cholestatic jaundice: An unusual presentation of a rare disease

Fibrolamellar hepatocellular carcinoma is a rare primary hepatic tumor that usually occurs in youth. The common presenting features are vague abdominal pain, nausea, vomiting and weight loss. We present a case report of a young male who presented with cholestatic jaundice and on evaluation was diagnosed to have fibrolamellar hepatocellular carcinoma. He underwent successful surgical resection of the tumor. In young individuals presenting with unexplained cholestasis, fibrolamellar hepatocellular carcinoma should be considered.

Primary hepatoid adenocarcinoma of lung: A rare malignancy mimicking tuberculosis

Hepatoid adenocarcinoma of lung (HAL) is a rare aggressive malignant tumour which histologically resembles hepatocellular carcinoma (HCC). Hepatoid adenocarcinoma (HAC) mostly produces high levels of alphafetoprotein (AFP) and is frequently found in extrahepatic organs including stomach, testes, ovaries, lungs and pancreas. Our patient was a male in his 40s with a chronic smoking history, presented with complaints of fever, weight loss, cough and anorexia for one month. On the basis of history, examination and initial investigation patient were started on empirical antitubercular therapy. However, within a span of 10 days, patient's condition worsened, and he developed a pulmonary embolism, which despite adequate treatment did not improve and the patient succumbed to his illness. Postmortem biopsy revealed a rare primary lung tumour, HAL.

Robotic left hepatectomy for rare primary giant solitary fibrous tumor

Background: Solitary fibrous tumors (SFTs) are uncommon, slow-growing neoplasms of mesenchymal origin. Greater than 80% of SFTs are benign and are typically asymptomatic. SFTs most commonly present in the pleura and mediastinum but have also been reported to originate in the meninges, upper respiratory tract, thyroid, and peritoneum. SFTs of the liver are extremely rare; in fact, there have only been 86 cases reported in the English language literature. Surgical resection is recommended for SFTs due to the potential for malignancy, especially as SFTs can be misdiagnosed by needle-biopsies. Due to non-specific imaging features, SFTs are often diagnosed post-operatively based on histopathological and immunohistochemical properties.

A rare primary thyroid mixed germ cell tumour: a case report

Germ cell tumours mostly occur in the gonads. Extragonadal site is rare and mainly located in the mediastinum, retroperitoneum and pineal gland. Germ cell tumour that occurs in the thyroid gland is extremely rare. We present our first description of a patient with a mixed germ cell tumour located primarily in the thyroid gland. A 35 years old gentleman presented with two months history of thyroid swelling associated with compressive symptoms. His neck ultrasound showed multinodular goiter with suspicious nodule (TR4) and FNAC revealed highly suggestive of a malignant lesion. Subsequently, the thyroid mass progressively enlarged in size causing acute upper airway obstruction that made him collapsed at Emergency Department. Core biopsy of TR4 thyroid nodule suggestive of malignant lesion which could be mixed germ cell tumour or poorly differentiated carcinoma. Abnormal laboratory tests showed a high concentration of LDH, Alpha fetoprotein and beta-HCG. He underwent emergency total thyroidectomy, debulking and tracheostomy. Histopathology reported the mass composed of mixed non-seminomatous germ cell tumour with area of necrosis (30%), primarily immature elements (80%), yolk sac tumour (15%) and embryonal carcinoma (5%). He was scheduled for chemotherapy post operatively however he succumbed to the illness due to advanced tumour and sepsis.

Cystic Tumor of the Atrioventricular Node Causing Rapid-Onset and Reversible Complete Heart Block

Cystic tumors of the atrioventricular node are rare primary cardiac neoplasms, frequently reported as a postmortem diagnosis during autopsy. Despite their small size, they can present with complete heart block or sudden cardiac death. Herein, we present a case of rapidly progressing high-grade atrioventricular block that improved after surgery. (Level of Difficulty: Intermediate.)

991 A PATIENT WITH INFERIOR Q WAVES AND CHEST PAIN: WHEN HOOF BEATS ARE NOT HORSES

Abstract Background Cardiac masses are commonly classified as neoplastic (primary and secondary) or non-neoplastic (e.g., thrombus or vegetation). Cardiac tumors are rare, and primary tumors are even rarer, with an estimated autopsy prevalence of &amp;lt; 0.1%. Differentiating between these masses is of paramount importance as treatment options greatly differ. Case presentation A 46-year-old male patient, current smoker, with family history of CAD and new onset hyperlipidemia and hypertension, underwent electrocardiogram (ECG) screening for an episode of chest pain. His ECG showed sinus rhythm with Q waves in inferior leads. The laboratory tests did not reveal any abnormality. His transthoracic echocardiogram showed normal biventricular function, and a lobular mass of 30×20 mm, that seemed in continuity with the antero-lateral (A-L) papillary muscle. For the presence of multiple cardiovascular risk factor, the patient underwent diagnostic coronary angiography which showed normal coronary arteries. Differential diagnoses were: hypertrophic cardiomyopathy with isolated hypertrophy of the A-L papillary muscle and LV mass. Cardiac magnetic resonance (CMR) was performed and demonstrated a pedunculated mobile non-enhancing 30×18mm mass within the LV anterior apex, that in the systolic phase contracts close relationships with the A-L papillary muscle which appears dislocated. This encapsulated formation determined a mild systolic obliteration of the LV cavity at the mid-apical portion. T1 imaging with and without suppression of adipose tissue, were compatible with cardiac intraventricular lipoma. The case was discussed in a multi-disciplinary heart team, and in accordance with the cardiac surgeon the patient underwent conservative management and follow up with echocardiography at 6 months and CMR at 1 year. Discussion Cardiac lipomas are rare benign primary cardiac tumors. They are usually indolent, asymptomatic and incidentally-discovered. Symptoms such as dyspnea, syncope or palpitations can occur if the tumor grows and causes LV obstruction, LV dysfunction or invasion of the conduction system. Sudden cardiac death has been reported, but the true incidence is unknown given its rarity. The most common location for cardiac lipomas is the inter-atrial septum, followed by endocardium of RA and LV. CMR is the imaging modality of choice when available and lipomas have a homogeneous appearance of increased signal intensity on T1-weighted imaging, with a reduction in signal intensity in fat-saturated sequences. As the prevalence of cardiac lipomas is very low, there are no randomized clinical trials or large prospective cohorts to provide guidance for optimal treatment. Embolization or infiltration of the myocardium are not common. For large lesions causing obstruction, surgical resection is usually indicated. Conclusion Cardiac lipoma is a rare primary tumor of the heart. The comprehensive evaluation is highly dependent on multimodality imaging methods. The best treatment strategy is still not clear and should be individualized.

Primary cardiac malignant peripheral nerve sheath tumour in a dog

AbstractA 6‐year‐old, female labrador retriever was presented for acute onset abdominal distention. Clinical examination identified tachycardia, a novel grade 3/6 right basilar systolic cardiac murmur, a distended abdomen and ventral pitting oedema. Jugular pulses were not present. Echocardiography revealed an infiltrative, intramural cardiac mass, with partial occlusion of the right atrium and ventricle, resulting in isolated caudal vena cava syndrome. Postmortem examination revealed a large mass arising from the base of the right atrium and extending into the ventricular lumen. Histopathological and immunohistochemical findings were consistent with a diagnosis of malignant peripheral nerve sheath tumour, a rare primary cardiac neoplasm in dogs.

A rare primary liver tumour case report: 53-year-old man with primary hepatic leiomyosarcoma

A rare primary liver tumour case report: 53-year-old man with primary hepatic leiomyosarcoma

How Should We Treat Meningeal Melanocytoma? A Retrospective Analysis of Potential Treatment Strategies.

Meningeal melanocytomas (MM) are rare primary melanocytic tumors of the leptomeninges with an incidence of 1:10,000,000. Until now, there has been only sparse information about this tumor entity. Here, we provide a meta-analysis of all cases published in the English language since 1972. A literature review was performed using PubMed and Web of Science. All published cases were evaluated for location, sex, age, therapeutic approach, and outcome. In total, we included 201 patient cases in our meta-analysis. The majority of MM was diagnosed more frequently in men between the third and fifth decade of life. Surgery is the preferred therapeutic approach, and total resection is associated with the best outcome. Patients with partial resection or tumor recurrence benefit from adjuvant radiotherapy, whereas chemo- or immunotherapies do not improve the disease course. Malignant transformation was described in 18 patients. Of these, 11 patients developed metastasis. We present the first retrospective meta-analysis of all MM cases published in the English language, including an evaluation of different treatment strategies allowing us to suggest a novel treatment guideline highlighting the importance of total resection for recurrence-free survival and characterizing those cases which benefit from adjuvant radiotherapy.

Pleuropulmonary blastoma: case report in a child 8 years old

Pleuropulmonary blastoma is a very rare primary fetal tumor of the lung and pleura in young children and is associated with a mutation in the DICER1 gene. Based on the histological picture, three types of this tumor are distinguished: cystic (type I), solid cystic (II), solid (type III). Treatment is surgical followed by polychemotherapy. The prognosis is unfavorable.&#x0D; The authors bring to the attention of colleagues a description of a clinical case of pleuropulmonary blastoma in an 8-year-old child, diagnosed against the background of an acute respiratory viral infection. He fell ill acutely with a rise in temperature and an unproductive cough. The condition was regarded as a course of an acute respiratory viral infection, symptomatic therapy was carried out. After 8 days from the onset of respiratory viral infection, there is a sharp deterioration in the condition in the form of shortness of breath, refusal to eat and drink, and weakness. The child is hospitalized in a Central District Hospital, differential diagnosis with pneumonia is carried out. According to the examination (plain radiograph and CT scan of the chest), a large volumetric formation with even contours is visualized in the right lung. The patient is transferred to a specialized hospital in St. Petersburg. After an MRI of the chest organs with contrast, taking a biopsy material and performing a histological examination, the patient was diagnosed with a tumor of the right lung pleuropulmonary blastoma type II.&#x0D; This clinical case of a rare malignant tumor in an 8-year-old child with congenital heart disease and cerebral palsy may demonstrate a severe variant of systemic connective tissue dysplasia and gene mutation.

Review of Sclerosing stromal tumor: A relatively rare ovarian neoplasm

Abstract Introduction/Objective Sclerosing stromal tumor (SST) is sex cord stromal tumor which is rare primary ovarian neoplasm. Because its clinical presentation and imaging findings accurate preoperative clinical diagnosis can be difficult. We report three cases of a sclerosing stromal tumor of ovary and histopathological presentation. Methods/Case Report Our patients had an age ranged from 27-40 years with primary ovarian neoplasm and as incidental in 64-year-old patient. Radiologically lobulated and heterogeneously enhancing, partially calcified masses with nodular rind of avid enhancement about the periphery of the lesion with high risk malignancy were seen. Grossly the masses had firm tan-white, solid, lobulated cut surfaces with patchy calcifications Results (if a Case Study enter NA) Microscopically all the three tumors showed a hyalinized, well-circumscribed nodule with few scattered trabeculae of spindled to plump cells with pale grey cytoplasm within a sclerotic stroma with few staghorn- like blood vessels around the periphery. Scattered calcifications were identified. No mitoses are identified. The reticulin stain showed pericellular focal nested staining pattern. There was no necrosis, pleomorphism, or features of malignancy were identified. Findings were consistent with a sclerosing stromal tumor. Conclusion Ovarian sex cord-stromal tumors are relatively infrequent neoplasms of all primary ovarian tumors. Clinical and sonographic findings alone do not predict the presence of this tumor. SSTs should be considered in differentials in young females with unilateral masses with cystic and solid masses. These tumors carry a good prognosis. Histopathological features along with immunohistochemsitry establish the diagnosis.