Angiomatoid fibrous histiocytoma in the spinal canal of T3-T4: a case report and literature review.

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumour that occurs in the superficial tissue of extremities of children and young adults. A painless mass in the deep dermis and subcutaneous tissue is the main clinical manifestation. AFH also occurs infrequently in the central nervous system and is relatively common in the cranium. However, spinal canal AFH has not been described yet. We report a rare case of AFH in the cervical canal of a 20-year-old male patient. Microsurgical gross total resection of the tumour was performed, and the diagnosis was confirmed by postoperative pathology. To our knowledge, this is the first case of AFH in the spinal canal.

Surgical treatment of a primary malignant pericardial mesothelioma: case report.

Pericardial malignant mesothelioma (MM) is a rare tumour which accounts for about 1% of all mesotheliomas, 4% of the primary heart and pericardial tumours. It carries an extremely poor prognosis, with a reported overall survival of less than 6 months. Clinical symptoms and signs are frequently nonspecific, and the diagnosis is usually made after surgery or at autopsy. We report a case of a 72 years old woman with primary pericardial malignant mesothelioma involving the right atrium. Nine months following surgery, the patient is alive with good performance status.

Enterogenous cyst of the small bowel mesentery: a case report and review of the literature.

INTRODUCTION: Enterogenous cysts are a very rare congenital abnormality that can be found anywhere within the gastrointestinal tract, most commonly in the small intestine. The incidence is approximately one in 4500-10,000 live births. Diagnosis can be suggested by ultrasound (US), computed tomography (CT) scans or magnetic resonance imaging (MRI) findings, although histological examination confirms the definitive diagnosis. PATIENTS: We present a case of enterogenous cyst in an adult female who underwent a resection of the tumour. RESULTS: After two years of observation, there is no evidence of tumour recurrence.

Special types of thyroid carcinoma.

This article reviews the small percentage of thyroid tumours that are not classified as classic papillary thyroid carcinoma, follicular thyroid carcinoma, and medullary thyroid carcinoma. It includes subtypes of papillary thyroid carcinoma, including, tall-cell, hobnail/micropapillary, columnar cell, diffuse sclerosing and solid variants. Poorly differentiated carcinoma, high-grade carcinoma and anaplastic thyroid carcinoma are reviewed. Also discussed are entities that are unusual but need to be recognized as primary thyroid neoplasms, i.e. mucoepidermoid carcinoma, sclerosing mucoepidermoid carcinoma with eosinophilia, and mammary analogue secretory carcinoma/secretory carcinoma. The pathological features and prognostic factors are described; a brief review of molecular correlates of these neoplasms is included.

Primary cardiac lymphoma: diagnosis, treatment and outcome in a modern series.

Primary cardiac lymphoma (PCL) represents a rare subset of extranodal lymphomas for which the primary lesion arises from the heart and/or the pericardium. Fundamental characteristics of PCL remain uncertain, regarding optimal diagnosis strategy, pathological features, treatments, as well as prognostic factors. This is a single-institution retrospective study of patients with histologically proven lymphoma, presenting with exclusive or predominant myocardial invasion at time of diagnosis. Thirteen patients were included, all of whom had symptoms related to cardiac tumour location with chronic chest pain in six (46%), dyspnea in seven (54%) and arythmia in three (23%). Sub-acute and acute congestive heart failure were noticed in respectively nine (70%) and one (9%). PCL was identified at transthoracic echocardiography and computed tomography scan in 80 and 100% of patients, respectively. Most frequent location was the right atrium in 10 (77%) patients. Pericardial effusion was identified in 10 (77%). Pathological diagnosis-diffuse large B-cell lymphoma in 12 cases and Burkitt in 1 case-was made on cardiac surgical biopsies in 9 cases and by intravascular procedure in 2 cases. All patients received first-line chemotherapy, with a complete response rate of 62%. Recurrences occurred in 55% of patients, mostly at extracardiac extranodal sites. Our data confirm that PCL harbours specific clinical and anatomical features. The aggressiveness of PCL mainly results from the possible onset of acute cardiac events. Further molecular characterization may help to further individualize PCL among diffuse and intrathoracic lymphomas. Copyright © 2016 John Wiley & Sons, Ltd.

Is motherhood still possible after pelvic carbon ion radiotherapy? A promising combined fertility-preservation approach.

INTRODUCTION: Preserving the endocrine and reproductive function in young female cancer patients undergoing pelvic radiation is a significant challenge. While the photon beam radiation's adverse effects on the uterus and ovaries are well established, the impact of pelvic carbon ion radiotherapy on women's reproductive function is largely unexplored. Strategies such as oocyte cryopreservation and ovarian transposition are commonly recommended for safeguarding future fertility. METHODS: This study presents a pioneering case of successful pregnancy after carbon ion radiotherapy for locally advanced sacral chondrosarcoma. RESULTS: A multidisciplinary approach facilitated the displacement of ovaries and uterus before carbon ion radiotherapy, resulting in the preservation of endocrine and reproductive function. CONCLUSION: The patient achieved optimal oncological response and delivered a healthy infant following the completion of cancer treatment.

Review on Sertoli-Leydig Cell Tumours of the Ovary.

Sertoli-Leydig cell tumours (SLCTs) represent a subset of mixed sex cord-stromal tumours (SCSTs), a rare form of non-epithelial ovarian tumours comprising less than 7% of malignant cases. Among other types of SCSTs, SLCTs are one of the more prevalent types observed in young adults. SLCTs are classified into 5 histologic categories based on differentiation levels and histological variants. Diverse chromosomal and genetic mutations have been identified in SLCTs, with the most well-studied being the genetic mutations observed in the Dicer 1, Ribonuclease III (DICER1) and the Forkhead Box L2 (FOXL2) genes. These mutations have important clinical implications and their mechanisms are discussed. Particularly, this review emphasizes the correlation between tumour differentiation, mutation status and virilization. Current common methods and difficulties in the clinical diagnosis of SLCTs are also considered, and the usefulness of immunohistochemistry is highlighted. Patient stratification for treatment is done according to the patient's age, stage of disease and prognostic factors. The gold standard of treatment is surgical resection and adjuvant chemotherapy is administered based on the risk of recurrence. The management of recurrence remains a major challenge. Apart from recurrence, there is also a risk of the development of a metachronous tumour, especially in patients with DICER1 syndrome. Hence, the diagnosis of a SLCT has important implications for genetic testing and patient surveillance even if the management of the tumour is successful. This scoping review serves to consolidate current knowledge on SLCTs and advocates for future research advancements to refine diagnosis, management, and prognosis.

Circulating cell-free DNA (cfDNA) in patients with medullary thyroid carcinoma is characterized by specific fragmentation and methylation changes with diagnostic value.

Medullary Thyroid Carcinoma (MTC) is a rare neuroendocrine tumour whose diagnosis includes evaluating calcitonin serum levels, which can present fluctuations unrelated to MTC. Here, we investigated circulating DNA fragmentation and methylation changes as potential biomarkers using ddPCR on cell-free DNA (cfDNA) isolated from the plasma of MTC patients. For cfDNA fragmentation analysis, we investigated the fragment size distribution of a gene family and calculated short fragment fraction (SFF). Methylation analyses evaluated the methylation levels of CG_16698623, a CG dinucleotide in the MGMT gene that we found hypermethylated in MTC tissues by analyzing public databases. The SFF ratio and methylation of CG_16698623 were significantly increased in plasma from MTC patients at diagnosis, and patients with clinical remission or stable disease at follow-up showed no significant SFF difference compared with healthy subjects. Our data support the diagnostic value of cfDNA traits that could enable better management of MTC patients.

Primary lung carcinoma in children and adolescents: An analysis of the European Cooperative Study Group on Paediatric Rare Tumours (EXPeRT).

BACKGROUND: Primary lung carcinoma is an exceptionally rare childhood tumour, as per definition of the European Cooperative Study Group on Paediatric Rare Tumours (EXPeRT), with an incidence of 0.1-0.2/1,000,000 per year. Little is known about the clinical characteristics of children with primary lung carcinoma, a gap which this joint analysis of the EXPeRT group aimed to fill. PATIENTS AND METHODS: We performed a retrospective case series of children (aged 0-18 years) with primary lung carcinoma, as collected through the EXPeRT databases between 2000 and 2021. We recorded relevant clinical characteristics including treatment and outcome. RESULTS: Thirty-eight patients were identified with a median age of 12.8 years at diagnosis (range: 0-17). Mucoepidermoid carcinoma (MEC) was the most frequent entity (n = 20), followed by adenocarcinoma (n = 12), squamous cell carcinoma (n = 4), adenosquamous carcinoma (n = 1) and small-cell lung cancer (n = 1). Patients with MEC presented rarely with lymph node metastases (2/20 cases). Overall, 19/20 patients achieved long-lasting remission by surgical resection only. Patients with other histologies often presented in advanced stages (14/18 TNM stage IV). With multimodal treatment, 3-year overall survival was 52% ± 13%. While all patients with squamous cell carcinoma died, the 12 patients with adenocarcinoma had a 3-year overall survival of 64% ± 15%. CONCLUSIONS: Primary lung carcinomas rarely occur in children. While the outcome of children with MEC is favourable with surgery alone, patients with other histotypes have a poor prognosis, despite aggressive treatment, highlighting the need to develop new strategies for these children, such as mutation-guided treatment.

NUT carcinoma in children, adolescents and young adults.

BACKGROUND: NUT carcinoma (NC), defined by the presence of the NUTM1 rearrangement, is an aggressive tumour associated with poor prognosis. This rare cancer is underdiagnosed and difficult to treat. OBJECTIVE AND METHODS: The primary objective of this review is to describe the clinical, radiological and laboratory features of NC in young patients. The secondary objective is to propose a consensual strategy for the French very Rare Tumour group (FRACTURE group). RESULTS: NUT-specific antibody immunostaining in cases of undifferentiated or poorly differentiated carcinoma may demonstrate the specific NUT gene rearrangement. NCs are frequently advanced stage at diagnosis and the outcome remains poor despite a global strategy that generally includes conventional combination chemotherapy with wide local therapy (surgery, radiotherapy). Chemosensitivity is frequently only transient. CONCLUSION: Recent data have shown that new targeted drugs (histone deacetylase and bromodomain and extra-terminal protein inhibitors) are promising, but their role has yet to be evaluated in NC. Centralized data review is necessary to improve our knowledge of paediatric NC. We propose a multimodal strategy based on published data and their personal experience.

Semi-prone position for thoracoscopic resection of a rare oesophageal tumour.

Oesophageal schwannomas are extremely rare tumours arising from Schwann cells of the neural sheath, with less than 115 cases reported in the English literature. These tumours are usually sporadic and account for about 2% of all stromal oesophageal tumours. Diagnosis is usually confirmed by the presence of positive immunohistochemical marker S-100 and absence of CD117, CD34, smooth muscle actine and Desmin. Treatment can vary from enucleation to oesophagectomy. Herein, we report a case of a 61-year-old woman who presented with progressive dysphagia. Computerized tomography scan revealed a 5 × 3 cm mass extending proximal to the azygos arch. Oesophagogastroduodenoscopy showed a submucosal mass at 20-24 cm from the incisors. Endoscopic ultrasound showed a 6 × 3 cm well-circumscribed mass originating from the fourth layer, suspicious for a gastrointestinal stromal tumour. The patient underwent thoracoscopic enucleation of the tumour in a semi-prone position. Final pathology was consistent with a completely resected benign oesophageal schwannoma, positive for S-100.

Calcified Amorphous Tumor of Left Ventricle: A Rare Cardiac Tumor.

Cardiac calcified amorphous tumor (CAT) is a rare, non-neoplastic, intra-cavity cardiac mass. Only a few cases have been described in the literature. A 46-year-old Indian female presented with decompensated heart failure. On echocardiography, 1.9 x 1.7 cm pedunculated mobile mass in the left ventricle attached to the intraventricular septum was seen. On cardiac magnetic resonance imaging (MRI), the lesion was isointense. Histopathology of the excised mass revealed fibrin deposition with eosinophilic amorphous material in the center with the periphery of the lesion showing calcification without any myxomatous tissue. A final diagnosis of CAT of the heart was established. CAT is composed of calcium deposits in the background of amorphous degenerating fibrinous material. It presents as a pedunculated mass in any chamber of the heart with a very high preponderance of distal embolization. Differentiation from calcified atrial myxoma, calcified thrombi, or other cardiac neoplasms is very difficult. Histopathological examination is the mainstay of diagnosis. Treatment is emergency excision to prevent distal embolization. CAT is a rare non-neoplastic tumor, which is mainly a tissue diagnosis after its resection.

Paratesticular fibrous pseudotumour in a 26-year-old Nigerian man: A case report.

INTRODUCTION AND IMPORTANCE: Benign fibroblastic proliferation located within the scrotum are uncommon. They are also identified as fibrous pseudotumour and usually arise from the paratesticular region. Their pathogenesis is unknown. These tumours are difficult to diagnose pre-operatively and resemble intra-scrotal malignancy. CASE PRESENTATION: We managed a 26-year-old Nigerian man with a five-year history of left sided hemiscrotal swelling. The mass was excised, and histology showed benign fibroblastic proliferation. DISCUSSION: Most paratesticular tumours are benign. Imaging studies that show the mass as separate from the testis, normal levels of tumour markers and clinical features not suggestive of malignancy make the case for organ-sparing mass excision, in the treatment of paratesticular fibrous pseudotumour, very strong. CONCLUSION: Intra-scrotal benign fibrous proliferation is a challenge to diagnose pre-operatively but excision of this benign mass without an orchidectomy is practicable when pre-operative assessment suggests a benign disease.

Papillary Carcinoma in Struma Ovarii: A Radiological Dilemma.

Struma ovarii is a very rare tumour of the ovary, which is usually benign. It is a solid cystic swelling of the ovary, which is characterised by the presence of histologically detectable thyroid tissue. Confirmatory diagnosis is usually on histopathology after resection of the tumour. It is difficult to identify struma ovarii with radiological investigations alone as it may mimic malignancy. In this case report, we present the case of a 48-year-old woman who had a total abdominal hysterectomy for an incidental finding of right adnexal mass on ultrasound scan following a 10-day history of loose stools and pain in the abdomen. It was ultimately found to be a follicular variant of papillary carcinoma in struma ovarii after a pathological examination.

Desmoplastic small round-cell tumour of the peritoneal cavity: case report and literature review.

Desmoplastic small round-cell tumour is a very rare neoplasm, which usually arises from the abdominal or pelvic peritoneum of adolescents and young adults. Early diagnosis is difficult, because most tumours present with non-specific gastrointestinal symptoms after a long asymptomatic period. It is generally a very aggressive tumour, which grows rapidly with poor prognosis and an overall five-year survival rate of 15% despite multimodal treatment. Despite multiple treatment strategies, the management of desmoplastic small round-cell tumour still remains a clinical challenge and no consensus about a therapeutic protocol has been established. A 35-year-old man presented with mild abdominal pain, constipation and weight gain, and was eventually diagnosed with desmoplastic small round-cell tumour, which was shown to be limited to the abdomen. After incomplete debulking surgery, radiotherapy and chemotherapy, he developed multiple metastatic nodular foci in chest and the pleura and, unfortunately, he died due to disease progression.

Granular cell tumour of the breast: A rare presentation of a breast mass in an elderly female with a subsequent breast cancer diagnosis.

A 74-year-old female patient presented with a hard breast mass and dimpling with a clinical suspicion of a carcinoma. Histological evaluation revealed a granular cell tumour. Granular cell tumour is a rare neoplasm, mostly benign in origin that may arise in every body site, 5%-15% of cases occur in the breast. It is strongly suggested that granular cell tumours origin is Schwann cells. Clinically, granular cell tumours presentation may mimic mammary carcinoma and their similar features on mammography and ultrasound make it difficult to differentiate between them.

Sarcomatoid Carcinoma: "A Surgeons Nightmare".

Sarcomatoid carcinoma (SC) is a rare and unique disease of the oral cavity. It is a biphasic squamous cell carcinoma with sarcoma-like characteristics. It is a strikingly aggressive lesion with a rapid rate of growth and a high rate of metastasis. Diagnosing a sarcomatoid carcinoma may present a challenge; most can only be ascertained by immunohistochemical study. An aggressive treatment plan should be devised for this uncompromising disease with a readiness to accept the dire outcome. We hereby present a case of a 50-year-old male patient, with no history of deleterious habit, diagnosed with SC of the buccal mucosa that proved to be fatal.

Malignant neoplasms of Meckel's diverticulum; an evidence based review.

An up to date published literature has shown that Meckel's Diverticulum (MD) are discovered incidentally and are benign, malignant transformation is unusual with reported incidence to be only 0.5%-3.2%. The research available on this rare tumour remains scanty, mainly consisting of case reports and case series with many researchers reporting on their own clinical experience and often disagree on not only its epidemiology, but also more so on its surgical indications. In addition to the above there is no agreed standard formal grading and staging classification for primary MD tumour that can not only help assess the tumour in a systematic way, but also advise on a standard treatment plan that is to be followed after emergency surgery. Hence, the aim of this article is to systematically review the latest evidence on these rare types of malignant neoplasm originating from MD, and conclude the best management options when encountered with such situations.

Low-grade Serous Ovarian Carcinoma.

In the early 2000s a two-tier grading system was introduced for serous ovarian cancer. Since then, we have increasingly come to accept that low-grade serous ovarian carcinoma (LGSOC) is a separate entity with a unique mutational landscape and clinical behaviour. As less than 10% of serous carcinomas of the ovary are low-grade, they are present in only a small number of patients in clinical trials for ovarian cancer. Therefore the current treatment of LGSOC is based on smaller trials, retrospective series, and subgroup analysis of large clinical trials on ovarian cancer. Surgery plays a major role in the treatment of patients with LGSOC. In the systemic treatment of LGSOC, hormonal treatment and targeted therapies seem to play an important role.

Lymphangioma of the heart as a rare tumor: A case report.

INTRODUCTION: Tumors of the heart are uncommon, and lymphangiomas are among the rarest of this group, with very few cases reported. These tumors consist of a benign slow-flow vascular malformation. PRESENTATION OF CASE: We report a case of a man diagnosed incidentally with a pericardial mass and our surgical approach for its treatment. DISCUSSION: The pericardial mass of our case had no cleavage plane between the myocardium and the tumor. Because of this, rather than a total resection, with very high operative risk, a biopsy was preferred. The pathology specimen showed a benign tumor and the patient was referred to the cardiologist for regular follow-up. CONCLUSION: There is no specific investigation for diagnosing cardiac lymphangiomas, and though benign, they should be considered in the differential diagnosis of other malignant diseases of the mediastinum and definitive pathologic diagnosis is mandatory. Given the increased risk of uncontrolled bleeding related to percutaneous biopsy, the definite diagnosis is usually obtained with open surgical biopsy.