Rare Tumor Research Articles

Primary thoracolumbar intraspinal malignant melanoma: A case report

BACKGROUND Primary intraspinal malignant melanoma is a very rare tumor that most often occurs in the cervical, thoracic, or thoracolumbar segment. CASE SUMMARY A rare case of primary thoracolumbar malignant melanoma is described. A 45-year-old female patient complained of low back pain with numbness and fatigue in both lower limbs. MR revealed an intradural space-occupying lesion at the thoracic 12 to lumbar 1 level. The tumor was partially excised, and a malignant melanoma was confirmed by histopathology. CONCLUSION Primary intraspinal malignant melanoma has rarely been reported, and surgical resection and related characteristics and diagnoses have been discussed.

Uterine epithelioid trophoblastic tumor with the main manifestation of increased human chorionic gonadotropin: A case report

BACKGROUND Epithelioid trophoblastic tumor (ETT) is an extremely rare malignant gestational trophoblastic neoplasm commonly presenting with abnormal vaginal bleeding, abdominal pain, and increased human chorionic gonadotropin (hCG). This study reported a case of uterine ETT with the main manifestation being increased hCG. CASE SUMMARY A 39-year-old female was referred to the Ningbo Maternal and Child Hospital of China in December 2022, complaining of increased hCG levels for 1 month. Magnetic resonance imaging revealed gestational trophoblastic tumor, and hysteroscopic electrotomy and curettage of intrauterine hyperplasia were performed. The patient was diagnosed with uterine ETT through postoperative pathological examination and immunohistochemical results. Total laparoscopic hysterectomy and bilateral salpingectomy were performed, and hCG levels returned to normal. The patient was without recurrence during the postoperative 3-month follow-up. CONCLUSION This study reported a case of uterine ETT with the main manifestation being increased hCG, highlighting that ETT should be considered in the presence of abnormal hCG. A total laparoscopic hysterectomy is recommended.

Treatment for paraganglioma with stereotactic radiotherapy

BACKGROUND Paragangliomas (PG) are rare neoplasms of neuroendocrine origin that tend to be highly vascularized, slow-growing, and usually sporadic. To date, common treatment options are surgical resection (SR), with or without radiation therapy (RT), and a watch-and-wait approach. AIM To evaluate the local control and effectiveness of exclusive fractionated stereotactic RT (FSRT) treatment in unresectable PG (uPG). METHODS We retrospectively evaluated patients with uPG (medically inoperable or refused SR) treated with FSRT with a Cyberknife System (Accuray Incorporated, Sunnyvale, California). Toxicity and initial efficacy were evaluated. RESULTS From May 2009 to January 2023, 6 patients with a median age of 68 (range 20-84) were treated with FSRT. The median delivered dose was 21 Gy (range 20-30 Gy) at a median isodose line of 75.5% (range 70%-76%) in 4 fractions (range 3-5 fractions). The median volume was 13.6 mL (range 12.4-65.24 mL). The median cumulative biological effective dose and equivalent dose in 2-Gy fractions were 70 Gy and 37.10 Gy respectively. Site of origin involved were the timpa-nojugular glomus (4/6), temporal bone, and cervical spine. In 1 of the 6 patients, the follow-up was insufficient; 5 of 6 patients showed a 5-year overall survival and 5-year progression-free survival of 100%. We observed negligible toxicities during and after RT. The majority of patients showed stable symptoms during follow-up. Only 1 patient developed spine metastases. CONCLUSION Our preliminary results on this small cohort of patients suggest that FSRT could be an effective and safe alternative to SR.

FOCUS ON MELANOTIC NEUROECTODERMAL TUMOR OF INFANCY

Melanotic neuroectodermal tumor of infancy (MNTI) is a very rare benign neoplasm of probable neurocristic origin. It primarily affects children in the first year of life, with the median age at diagnosis of 4.5 months (range 0-804 months). It usually presents as a fast-growing, painless tumor developing within maxilla, skull bones or mandible but other locations are also possible, especially in older children. The cornerstone of treatment of MNTI is surgery, however local relapses after incomplete tumor excision are common, particularly in patients younger than 2 months of age. Rare cases of multiple recurrent, inoperable or metastatic MNTI pose therapeutic challenges. In such clinical scenarios, various regimens of neoadjuvant chemotherapy based on schemes for neuroblastoma or Ewing sarcoma have been used with partial regressions in some patients, enabling less mutilating delayed surgery. The use of radiotherapy is limited due to very young age of patients with MNTI. No targeted therapies have been found useful so far. Long-term prognosis of localized MNTI is favorable. However, extensive or recurrent lesions can result in functional or esthetic sequelae after surgical removal. Rare cases of malignant/metastatic tumors and MNTI diagnosed in older children have unfavorable outcomes. Further collaborative studies to establish standards of management in patients with MNTI are necessary to improve outcomes and diminish sequalae of surgery. This article presents a literature review on this very rare tumor entity, re-evaluated in the light of the experience gained in the national working groups joined together within the European Cooperative Study Group in Pediatric Rare Tumors (EXPeRT).

Hepatoblastoma: Experience of the paediatric haematology and oncology department, Hassan II university hospital of Fez.

Introduction: Hepatoblastoma is the most common malignant hepatic tumour in children. However, it is a rare disease, representing approximately 2% of childhood tumours. The treatment combines chemotherapy with surgical excision. The objective of this study was to describe the epidemiological, clinical, therapeutic and progressive aspects of hepatoblastoma treated in the paediatric haematology and oncology department at the University Hospital Hassan II of Fès. Patients and Methods: This was a descriptive and retrospective study conducted over a 11-year period. All patients aged 0 to 15 years who were admitted and treated for hepatoblastoma were included. Results: 24 patients met the study criteria, including 9 boys and 15 girls. The average age at diagnosis was 11.52 months ± 4.9. The most common reason for consultation was abdominal distension. Hepatomegaly was observed in 50% of cases. The average tumour size was 116 mm. At the time of diagnosis, one-third of patients had pulmonary metastases, and all patients were classified as high risk. Therapeutically, 19 patients (79.17%) received chemotherapy and 16 (66.67%) underwent surgery. On the evolutionary level, we observed a recovery without events in 10 (41.67%) patients. Conclusion: hepatoblastoma is a rare tumour, but remains the most common hepatic tumour in children. Despite progress in diagnostic and therapeutic means, the mortality rate is significant.

Expression of fibroblast activation protein in intrathoracic solitary fibrous tumor

PurposeFibroblast activation protein (FAP) is a serine integral membrane protease, the expression of which has been confirmed in various cancer types. Solitary fibrous tumors of the pleura (SFTP) are rare mesenchymal fibroblastic neoplasms. We present a case of 18F-labeled FAP inhibitor ([18F]FAPI-74) PET imaging and its correlation with histological FAP expression and review an SFTP series at our institution in relation to the extent of FAP expression. MethodsThis retrospective study included 13 patients who underwent surgery between March 2011 and December 2022 at our institute. One of the patients also underwent [18F]FAPI-74 PET imaging. We semi-quantitatively evaluated FAP expression in SFTPs using immunohistochemical staining and H-scores. ResultsNine of the 13 patients were male, with a median age of 64 years (range, 28–79 years). The median tumor size was 6.6 cm (1.1, 16 cm). In the pathological findings, expression levels of Ki67 were 1–5% in 12 of 13 cases. Furthermore, FAP expression was observed in all patients, and the median H-score was 160 (range, 10–280). The H-score of FAP expression in two of the 13 patients was low (10 in both), and that in two of the 13 patients was high (240 and 280). The SUVmax value of [18F]FAPI-74 PET was 3.57 in a patient in whom the H-score of FAP expression was 180. ConclusionsSFTPs expressed FAP to varying degrees in different patients and the [18F]FAPI-74 PET results in one patient reflected FAP expression in the tumor tissue.

Malignant Melanoma of the Sphenoid Sinus: Case Report and Literature Review.

Malignant melanoma originating from the sphenoid sinus is an extremely rare but aggressive tumor of the head and neck. A 57-year-old man had a 1 month history of headache, right trigeminal paresthesias, and upper lid ptosis. Magnetic resonance imaging showed a large mass in the right sphenoid sinus and an invasion of the right cavernous sinus and clivus. The patient underwent endoscopic endonasal transsphenoidal surgery, and pathologically revealed malignant melanoma. One month after the operation, the patient was treated with radiation therapy. Unfortunately, the patient died of distant metastasis 2 years later. Due to its rarity, there is still no effective treatment strategy and no way to assess the progression of malignant melanoma.

What is the Optimal Treatment Strategy after Sarcoma R2 Surgery?

Soft tissue sarcomas (STS) are rare tumours of mesenchymal origin, most commonly occurring in the extremity but also in the retroperitoneum. The curative treatment for STS is radical surgery with wide margins, in some cases in combination with perioperative radiotherapy and chemotherapy. Nonradical resection (R2) of STS has been an emerging issue in recent decades, as optimal subsequent management remains debatable. Similarly, there is still no consensus on optimal surgical margins. Combining multiple treatment modalities in adjuvant therapy can achieve local and distant control in patients following surgery with positive margins. Patients who have undergone nonradical resection therefore require additional surgical interventions, and adjuvant radiotherapy resulting in a better prognosis but a higher number of complications. Following non-radical treatment, patients with limb and trunk wall sarcomas and retroperitoneal sarcomas should also undergo increased oncological surveillance. Given the potential issues that may emerge in such clinical situations, it is crucial to up-date the current guidelines to enhance the long-term prognosis of these patients.

Chordoma: Genetics and Contemporary Management

Chordomas, arising from notochord remnants, are rare neoplasms with aggressive growth patterns despite their histologically low-grade nature. This review explores their embryological origins, molecular markers like brachyury, and genetic alterations driving pathogenesis. Diagnosis relies on advanced imaging and biopsy confirmation due to overlapping features with chondrosarcoma. The WHO classification distinguishes conventional, dedifferentiated, and poorly differentiated chordomas, each with distinct prognostic implications. Recent genomic analyses uncovered recurrent mutations in PI3K signaling pathways and chromatin remodeling genes, informing prognostic models. Surgery remains the cornerstone of treatment, though adjuvant radiation complements surgical resection. Although chordomas are generally considered refractory to medical therapy, emerging targeted molecular strategies show potential promise in ongoing trials. This review aims to provide a concise yet comprehensive overview of chordomas, guiding clinicians in diagnosis, treatment, and prognostication for improved patient outcomes.

Incipient Intracholecystic Papillary Neoplasm of the Gallbladder Without Dysplasia.

Intracholecystic papillary neoplasm (ICPN) of the gallbladder is a rare tumor described as a mucosal exophytic neoplastic lesion that projects into the gallbladder lumen. In regards to the size, lesions that did not make the arbitrary 1cm cutoff are described as "incipient" ICPN. Not much is known about these incipient ICPNs, as they are often excluded in ICPN studies, given the attempted adherence to the traditional 1cm cutoff. We present the youngest reported case of incipient, non-mucinous gastric-pylorus type ICPN who underwent cholecystectomy. Resection with negative margin for ICPN appears to be sufficient treatment and post resection imaging surveillance could be of value but further studies are required.

Primary Renal Angiosarcoma: Rare Tumour with Lethal Outcomes

Introduction: Renal haemangioma is a benign tumour, and due to its characteristics, it must be distinguished from malignant diseases. We present a clinical case of primary renal angiosarcoma initially mistaken for haemangioma due to their similarity. Case report: A 58-year-old man was admitted to the hospital with suspicion of pulmonary embolism. The patient complained of pain on the left side. An ultrasound and CT scan of the abdomen showed a tumour mass ~20.5 × 17.2 × 15.4 cm in size in the projection of the left kidney. On CT images, there were data for clear cell renal clear cell carcinoma (ccRCC). A left nephrectomy was performed. However, histological examination revealed renal haemangioma. Three months later, the patient presented to the hospital with abdominal and lumbar pain. A CT scan showed multiple small hypoechoic foci up to 2 cm in size in the liver, lungs, and intra-abdominally, with the most data for carcinosis. Histological re-verification of the left kidney showed a renal vascular tumour with pronounced signs of infarction and necrosis with the majority of the evidence supporting angiosarcoma. Despite treatment, the patient’s outcome was fatal. Conclusions: Based on the clinical presentation, radiological images and histological examination data, the tumour was initially misdiagnosed as kidney haemangioma. Due to the rarity of this tumour, there are no established treatment protocols or clinical guidelines for managing primary kidney angiosarcoma.

Clinicopathological characteristics and fertility preserving treatment of atypical polypoid adenomyoma

ObjectiveAtypical polypoid adenomyoma (APA) is a rare benign tumor frequently diagnosed in young women that may coexist with or progress to atypical endometrial hyperplasia (EAH) or endometrioid endometrial carcinoma (EEC). This study aimed to investigate which subset of patients with APA are prone to concurrent or subsequent EAH or EEC, evaluate the necessity of progestin treatment in patients with APA only after achieving a complete response (CR) through hysteroscopic lesion resection, and assess the impact of concurrent APA on the fertility-preserving treatment of EAH or EEC.MethodsThis retrospective single-center study analyzed 86 patients with APA treated at the Obstetrics and Gynecology Hospital of Fudan University between January 2010 and October 2021. Patients with EAH or EEC only who underwent fertility-preserving treatment during the same period were matched in a 2:1 ratio with patients with concurrent APA and EAH or EEC. The clinicopathological characteristics, treatments, and prognosis were analyzed.ResultsThe median patient age was 31 years (range 21–47 years). Among the 86 included patients, nine underwent total hysterectomy, 62 received conservative treatment, and the remaining 15 were lost to follow-up. A comparison of the 16 patients with APA only versus the 58 patients with APA and concurrent or subsequent EAH or EEC revealed that a homeostasis model assessment of insulin resistance (HOMA-IR) of > 2.2 (P = 0.047) and high-density lipoprotein (HDL) concentration of < 1.2 mmol/L (P = 0.028) were independent risk factors for EAH or EEC in patients with APA. Among the 17 patients with APA only who received conservative treatment and achieved a CR after hysteroscopic lesion resection, 13 received hormone treatment for a median duration of 6.3 months. The median follow-up time for these 17 patients was 49.0 months, during which no recurrence of APA was observed, but six patients developed endometrial hyperplastic diseases. Regarding the impact of concurrent APA on fertility-preserving treatment for EAH or EEC, the median time to achieve a CR was 24.0 weeks (95% confidence interval [CI]: 23.0–40.4) in the APA group and 26.0 weeks (95% CI: 24.3–32.3) in the non-APA group (P = 0.424). There were no significant differences between the two groups in the outcomes of fertility-preserving treatment.ConclusionPatients with APA only may still develop endometrial hyperplastic diseases after complete resection of the lesion under hysteroscopy to achieve a CR, particularly those with a HOMA-IR of > 2.2 or HDL concentration of < 1.2 mmol/L. Concurrent APA did not affect the efficacy of fertility-preserving treatment in patients with EAH or EEC.

Transcaval and intracardiac extension of type A tymoma and myxoma: a report of two rare cases

We report two cases of rare invasive tumors presenting with transvenous and intracardiac extensions. In one instance, an unusual invasive thymoma type A penetrated into the heart chamber; the other case was an extension of a myxoma into the right atrium that was associated with superior vena cava syndrome. Our interest was stimulated by the rarity of these clinicopathological observations and the unusual clinical features of diagnostic and therapeutic methods presented by these cases.

Surgical Outcomes of Pancreatic Solid Pseudopapillary Neoplasm: Experiences of 24 Patients in a Single Institute

Background and Objectives: The pancreatic solid pseudopapillary neoplasm (SPN), a rare tumor predominantly affecting young women, has seen an increased incidence due to improved imaging and epidemiological knowledge. This study aimed to understand the outcomes of different interventions, possible complications, and associated risk factors. Materials and Methods: This study retrospectively analyzed 24 patients who underwent pancreatic surgery for SPNs between September 1998 and July 2020. Results: Surgical intervention, typically required for symptomatic cases or pathological confirmation, yielded favorable outcomes with a 5-year survival rate of up to 97%. Despite challenges in standardizing preoperative evaluation and follow-up protocols, aggressive complete resection showed promising long-term survival and good oncological outcomes. Notably, no significant differences were found between conventional and minimally invasive (MI) surgery in perioperative outcomes. Histopathological correlations were lacking in prognosis and locations. Among the patients, one developed diffuse liver metastases 41 months postoperatively but responded well to chemotherapy and transcatheter arterial chemoembolization, with disease stability observed at 159 postoperative months. Another patient developed nonalcoholic steatohepatitis after surgery and underwent liver transplantation, succumbing to poor medication adherence 115 months after surgery. Conclusions: These findings underscore the importance of surgical intervention in managing SPNs and suggest the MI approach as a viable option with comparable outcomes to conventional surgery.

Immunotherapy for Solitary Fibrous Tumor (Hemangiopericytoma): A Unique Treatment Approach for a Rare Central Nervous System Tumor.

Solitary fibrous tumors (SFTs) of the central nervous system represent a unique entity with limited data on best treatment practices. Here, we present a case of multiply recurrent central nervous system SFT treated with radiation and immunotherapy. Immunotherapy was chosen based on mutations of genes encoding DNA repair enzymes detected through next-generation sequencing of the tumor, DNA polymerase epsilon catalytic subunit (POLE) and mutL homolog 1. The use of radiation and immunotherapy led to slight shrinkage and no recurrence of the tumor for over 2 years. The presence of somatic DNA repair enzyme gene mutations in SFT may suggest a benefit from a combination of radiotherapy and immunotherapy. This may serve as a biomarker for guiding management in patients with this rare tumor.

Neurologic recovery following laminectomy and tumor resection of a pediatric cervical synovial osteochondromatosis causing paralysis.

To report the surgical outcome of synovial osteochondromatosis, a rare tumor of the cervical spine, in a 6-year-old boy. A 6-year-old boy presented with muscle weakness in the right deltoid (2) and biceps (4) during a manual muscle test. Magnetic resonance imaging showed a 3 × 2 × 1.5cm mass within the spinal canal at the C4-6 level, compressing the cervical spinal cord from the right side. Computed tomography revealed hyperintense areas within the tumor and ballooning of the right C4-5 and C5-6 facet joints. After a biopsy confirmed the absence of malignancy, a gross total resection was performed. The pathological diagnosis of synovial osteochondromatosis was established. Postoperatively, muscle weakness improved fully in the manual muscle test, and there were no neurological findings after 3months. However, the patient is under careful follow-up owing to the detection of a regrowth site within the right C4-5 and C5-6 intervertebral foramen 2years postoperatively. Synovial osteochondromatosis of the cervical spine in children is rare, and this is the first report of its regrowth after surgery. Synovial osteochondromatosis should be included in the differential diagnosis of pediatric cervical spine tumors.

Genomic and T cell repertoire biomarkers associated with malignant mesothelioma survival.

Malignant mesothelioma (MM) is an exceedingly rare tumor with poor prognosis due to the limited availability of effective treatment. Immunotherapy has emerged as a novel treatment approach for MM, but less than 40% of the patients benefit from it. Thus, it is necessary to identify accurate and effective biomarkers that can predict the overall survival (OS) and immunotherapy efficacy for MM. DNA sequencing was used to identify the genomic landscape based on the data from 86 Chinese patients. T cell receptor (TCR) sequencing was used to characterize MM TCR repertoires of 28 patients between October 2016 and April 2023. Patients with TP53, NF2, or CDKN2A variants at the genomic level, as well as those exhibiting lower Shannon index (<6.637), lower evenness (<0.028), or higher clonality (≥0.194) according to baseline tumor tissue TCR indexes, demonstrated poorer OS. Furthermore, patients with TP53, CDKN2A, or CDKN2B variants and those with a lower evenness (<0.030) in baseline tumor tissue showed worse immunotherapy efficacy. The present study is the first to identify five special TCR Vβ-Jβ rearrangements associated with MM immunotherapy efficacy. The present study reported the largest-scale genomic landscape and TCR repertoire of MM in Chinese patients and identified genomic and TCR biomarkers for the prognosis and immunotherapy efficacy in MM. The study results might provide new insights for prospective MM trials using specific genes, TCR indexes, and TCR clones as biomarkers and offer a reference for future antitumor drugs based on TCR-specific clones.

Medullary Thyroid Carcinoma

Medullary thyroid carcinoma is a rare malignant tumor of the thyroid. An early diagnosis is associated with a better prognosis. Calcitonin is the cornerstone of diagnosis. In this study, we will discuss the clinical and evolutionary characteristics of this condition through a retrospective study of thirty-three patients over a period of seven years between January 2013 and December 2019. Our study includes 33 patients, comprising 12 men and 21 women with a sex ratio of 0.57. The average age of our patients is 45 years. A family history of similar cases was present in six patients (18%). As for the circumstances of discovery in our study, all our patients consulted for a cervical swelling (100%). Seven patients (20%) presented with signs suggestive of malignancy (dysphonia), and fourteen patients (40%) had lymphadenopathy at the time of diagnosis. Calcitonin levels were measured preoperatively in eighteen patients with a very high recurrence rate (60%). Cervical lymph node metastases were present in 40% of cases (fourteen patients). Total thyroidectomy was performed in all patients in our series. It was performed initially in 70% of cases. For patients who initially underwent partial thyroidectomy, we performed totalization regarding the other thyroid lobe. Lymph node dissection was performed in 60% of cases. Radiotherapy was indicated for all patients in our series except for the two patients with normal postoperative calcitonin levels. Close surveillance was the therapeutic choice for these patients. MTC remains a relatively rare tumor. It mainly affects young adults and mainly manifests as an isolated thyroid nodule. It is a lymphophilic tumor, and lymph node involvement is very early. Calcitonin is the basis of preoperative diagnosis. It guides the stage of the disease, helps to guide surgery, constitutes a key element of follow-up, and is considered an important prognostic factor for survival. Despite advances in targeted therapy, complete surgical resection rem

An Interesting Case Report of Medullary Thyroid Carcinoma Co-Exisiting with Hashimoto’s Thyroiditis

Medullary thyroid carcinoma (MTC) is a rare malignant tumor, which accounts for &lt;5% of all thyroid malignancies, derived from parafollicular C cells. Hashimoto’s thyroiditis, which is the most common cause of hypothyroidism is an autoimmune disease. Many studies have been done in association with Hashimoto’s thyroiditis, Papillary thyroid carcinoma and thyroid lymphomas. Very few cases of Hashimoto’s thyroiditis with coexisting medullary thyroid carcinoma have been reported, because of its rarity. MTC produces various tumor biomarkers mainly Calcitonin, Carcinoembryonic antigen (CEA) and Chromogranin A. For determining the severity of the condition, preoperative serum calcitonin and CEA values are crucial. Postoperatively, Serum levels of calcitonin and CEA can be used to assess for distant metastases and recurrence. Here we present a rare case of Medullary thyroid carcinoma coexisting with Hashimoto’s thyroiditis.

Risk Factors for Recurrence after Surgical Resection of Sinonasal Inverted Papilloma

Abstract Introduction Sinonasal inverted papilloma (SNIP) is a rare benign epithelial tumor of the nasal cavity and paranasal sinuses that accounts for 0.4% and 4.7% respectively, of all tumors of this anatomical region. Objective To analyze the outcomes after surgical resection of SNIP and identify the risk factors for recurrence in a Swiss tertiary center. Methods We conducted a retrospective review of all cases of SNIP treated at the Lausanne university hospital between 2005 and 2018. All data available on the patients and tumors were collected for analysis. We studied the recurrence rate and looked for risk factors. Results We included 57 patients with a mean age of 55.5 years. There were 46 primary cases (80.7%) and 11 recurrences (19.3%). Maxillary sinus was the most frequent location (33.3%). Approximately half of the patients (52.6%) presented with a T3 tumor according to the Krouse classification. The mean recurrence rate after surgery was of 17.5% and it was more frequent among the patients in the recurrence group (45.5%) than among the primary cases (10.9%), reaching statistical significance (odds ratio [OR] = 6.8; 95% confidence interval [95%CI]: 1.5–30.8; p = 0.0165). Most patients were treated endoscopically (94.7%). Frontal sinus location, higher Krouse stage, and combined approach seemed to increase the risk of recurrence, but without statistical significance. Conclusion Difficult surgical access, as in the case of tumors located in the frontal sinus, higher stage of the disease, and previously operated cases carry the higher risk of incomplete resection and recurrence.