Rare Location Research Articles

Osteoid-osteoma and osteoblastoma with rare localization – presentation of 4 clinical cases

Osteoid-osteoma and osteoblastoma are the two most common representatives of benign bone-forming tumors. Although both tumors are well known to the orthopedic community in Bulgaria, there are several rare localizations that would present difficulties in the diagnostic and therapeutic process. The purpose of our report is to present 4 pediatric cases with rare localization of osteoid-osteoma and osteoblastoma, diagnosed and treated in our clinic in the period between 2020-2022. The presented rare localizations of osteoid-osteoma and osteoblastoma may lead to a delay in making the correct diagnosis. Often, such patients are treated for long periods of time without much effect, which can lead to a deterioration in their quality of life.

Unilateral Posterior Spinal Cord Ischemia Due to a Floating Aortic Thrombus: A Case Report

Introduction. Spinal cord ischemia (SCI) accounts for less than 1% of all strokes, and mostly affects the anterior cord. The ascending aorta (AA) is the rarest site of localization for aortic thrombi (5%). We report a singular case of posterior SCI due to a floating thrombus in the AA. Case presentation. A 75-year-old male with acute left hemiparesis and left tactile and proprioceptive sensory loss below the C5 dermatome (NIHSS 3) is presented. Spinal cord MRI showed a C4–C6 ischemic lesion, involving the left lateral posterior hemi-cord. CT angiography showed a 6 mm floating thrombus in the AA. According to cardiovascular surgeons, dual antiplatelet therapy and high-dose statin were started. After seven days, the patient was discharged with mild left distal hemiparesis and an unchanged sensory deficit. Conclusions. Posterior SCI is rarer than anterior ischemia and potentially unilateral. Its clinical presentation is mainly sensory with possible, but not systematic, weakness of the homolateral limbs. SCI is often caused by aortic pathologies in the elderly, but the incidence rate of non-aneurysmal aortic mural thrombus is about 0.45% and the AA represents a very rare location. In similar cases, conservative medical treatment is preferred despite the high-risk rates of embolic recurrences.

Kaposi's Sarcoma in Children After Hematopoietic Stem Cell Transplantation: Two Cases of Rare Primary Tumor Localizations in the Lungs and Lymph Node.

Kaposi's sarcoma (KS) is a vascular / mesenchymal tumor with an indefinite degree of malignancy, caused by complex etiopathogenetic factors including Human Herpes Virus-8 infection of immunocompromised patients. For example, KS is more common in adult men with HIV. We describe 2 very rare cases of iatrogenic KS in children after hematopoietic stem cell transplant with isolated organ damage (case 1: lung; case 2: inguinal lymph node). KS is a potential complication of bone marrow transplant in pediatric patients and can occur in different age groups and at atypical sites.

Epithelioid extragastrointestinal stromal tumor in the pelvic cavity: A rare case at a rare location

ABSTRACT Extraintestinal gastrointestinal stromal tumors (EGISTs) are rare stromal tumors involving mesentery, omentum, and retroperitoneum. EGISTs of the pelvic cavity are extremely uncommon, and till date, no case of pure epithelioid type arising from the pelvic cavity has been reported. They pose a diagnostic pitfall as they may mimic ovarian malignancy. We present a unique case of an epithelioid extraintestinal stromal tumor arising from the pelvic cavity. A 43-43-year-old woman presented with complaints of abdominal pain and menstrual irregularities. Ultrasound examination revealed a large well-defined hypoechoic mass in the right pelvic cavity with a possible site of origin from the right ovary. A total hysterectomy with bilateral salpingo-oophorectomy was done. Histopathological examination revealed an encapsulated tumor comprising predominantly of nests and lobules of epithelioid cells with round-to-oval nuclei, vesicular chromatin, and moderate amount of eosinophilic to clear cytoplasm. Mitotic activity was brisk along with focal areas of necrosis. On immunohistochemistry, tumor cells were diffusely and strongly positive for DOG1 and CD117. They were negative for smooth muscle actin, vimentin, S-100, and HMB-45. Based on these findings, a final diagnosis of the high-grade GIST epithelioid variant was made. It is crucial to make the correct preoperative diagnosis of GIST, since these patients may benefit from neoadjuvant imatinib, especially in case of large tumor size.

Invasive micropapillary carcinoma of ampulla of Vater in a young female with negative lymph nodes: A case report and review of literature

ABSTRACT Invasive micropapillary carcinoma (IMPC) is an extremely rare and aggressive subtype of adenocarcinoma that was first described in breast cancer. It is characterised by an inside-out growth pattern with frequent lymphatic spread. Only few cases are described in the rare ampullo-pancreatobiliary location. In this case report, the diagnosis was unexpected given the patient’s age and gender, as well as the negative nodal status. Despite the reported aggressive behaviour of this tumour, no optimal treatment strategy for IMPC in the ampulla of Vater has been established. In addition, this variant is not included in the recent WHO of the digestive system.

Vulvar endometriosis: a rare primary location in adolescence.

Vulvar endometriosis: a rare primary location in adolescence.

Glomus Tumor of Rare Localization in the Thigh; Case Report and Literature Review

Glomus tumors are rare tumors primarily found on the nail bed of the fingers and rarely occur in other parts of the body. We present a case of a 71-year-old male who came in with a 5-year history of glomus tumor (GT) of the right lateral thigh associated with progressively increasing intermittent sharp pain. He denied any numbness or paresthesias of the extremity. Physical examination revealed a tender mass on the lateral side of the right upper leg associated with edema and erythema. Surgical excision and immunohistochemistry were performed. A histopathological diagnosis of glomus tumor was made. The postoperative recovery was successful and the patient reported resolution of the pain. We performed a literature review of reported cases of GTs of the thigh. The review showed that all patients had a long period of symptomatic disease before an accurate diagnosis could be made and were easily treated with surgical excision. No evidence of recurrence was noted after surgical removal. GTs of the thigh rarely recur due to their solid and encapsulated structure. This also makes them easy to recognize and surgically remove. This study highlights the unusual location of the GT, its impact on our patient, and reviews relevant academic literature. Tumors in these areas are frequently misdiagnosed due to vague symptoms. GTs should be included in the differential diagnosis of patients who experience pain with nonspecific symptoms that are not limited to specific body locations

Fishbone retention in the hypopharynx with abscess formation in the thyroid gland: A case report and literature review

Introduction: Among foreign bodies ingested by adults across the world, the most common is a fishbone foreign body. It’s most common location of impaction often being within the throat in areas such as the tonsils, tongue base, vallecular area, pyriform fossa, and cricopharyngeal area. Aim: To present the case of the fishbone embedded in the rare location, our clinical management and summarised approach to fishbone that migrates outside of the oesophagus. Case report: 76-year-old female was admitted to the hospital with a fishbone foreign body that was retained in the hypopharynx with abscess formation in the thyroid gland. The patient was treated successfully with direct rigid pharyngolaryngoscopy. Discussion: In most cases fishbone foreign bodies are easy to manage with a direct approach. Impacted fishbones may be more challenging as they can migrate deeply and can cause further complications requiring endoscopic approaches and even open surgery. Conclusions: It is important to examine and diagnose a patient accurately to reduce future complications of embedded foreign bodies. The proposed summary of management can be useful.

Clinical observation of patients with primary multiple malignant tumors, including primary multiple melanoma

Recently, there has been an increase in the number of patients with primary multiple malignant tumors, which not only affect one or more organs, but also differ in their histological structure. At the same time, melanoma of the skin is a rare localization among primary malignant neoplasms. This nosology accounts for only 3–5 % of all skin tumors. Melanoma is associated with high mortality due to the development of a pronounced metastatic potential, and therefore the study of this malignant formation is of the greatest relevance. Over the past 50 years, the incidence of multiple primary melanoma has increased significantly. At the same time, the number of patients with more than 2 lesions has increased to 18 % of the number of primary multiple melanomas over the past 50 years. This emphasizes the importance of monitoring patients with melanoma and regularly examining patients for new lesions. This article demonstrates a clinical case of a patient with a confirmed diagnosis of a primary multiple disease with melanoma of the skin and rectum. For skin melanoma, the patient underwent a wide excision of the tumor with inguinal-femoral lymph node dissection on the right. Subsequently, radiation therapy and chemotherapy were performed. Further, during a comprehensive examination, the patient was diagnosed with a malignant neoplasm of the lower ampullar rectum with a transition to the anal canal. The patient underwent laparoscopic-assisted abdominoperineal extirpation of the rectum. Histological analysis revealed nodular melanoma. From the anamnesis of the patient, among the comorbidities, breast cancer, uterine myoma, hemangioma of the liver and lung hamartoma were also identified. The clinical course of all malignant tumors was favorable, without the development of relapses and metastases. The greatest interest in this situation is the primary multiple melanoma in connection with successful treatment with the most unfavorable prognosis. The described clinical observation indicates the need for an in-depth study of cases of primary multiple malignant tumors and the search for mechanisms for a favorable course of malignant neoplasms in this case.

Clinical observation of patients with primary multiple malignant tumors, including primary multiple melanoma

Recently, there has been an increase in the number of patients with primary multiple malignant tumors, which not only affect one or more organs, but also differ in their histological structure. At the same time, melanoma of the skin is a rare localization among primary malignant neoplasms. This nosology accounts for only 3–5 % of all skin tumors. Melanoma is associated with high mortality due to the development of a pronounced metastatic potential, and therefore the study of this malignant formation is of the greatest relevance. Over the past 50 years, the incidence of multiple primary melanoma has increased significantly. At the same time, the number of patients with more than 2 lesions has increased to 18 % of the number of primary multiple melanomas over the past 50 years. This emphasizes the importance of monitoring patients with melanoma and regularly examining patients for new lesions. This article demonstrates a clinical case of a patient with a confirmed diagnosis of a primary multiple disease with melanoma of the skin and rectum. For skin melanoma, the patient underwent a wide excision of the tumor with inguinal-femoral lymph node dissection on the right. Subsequently, radiation therapy and chemotherapy were performed. Further, during a comprehensive examination, the patient was diagnosed with a malignant neoplasm of the lower ampullar rectum with a transition to the anal canal. The patient underwent laparoscopic-assisted abdominoperineal extirpation of the rectum. Histological analysis revealed nodular melanoma. From the anamnesis of the patient, among the comorbidities, breast cancer, uterine myoma, hemangioma of the liver and lung hamartoma were also identified. The clinical course of all malignant tumors was favorable, without the development of relapses and metastases. The greatest interest in this situation is the primary multiple melanoma in connection with successful treatment with the most unfavorable prognosis. The described clinical observation indicates the need for an in-depth study of cases of primary multiple malignant tumors and the search for mechanisms for a favorable course of malignant neoplasms in this case.

Cytological features of ectopic nasal meningioma. Report of a case diagnosed using FNAC.

We describe a case of primary extracranial meningioma of the nasal cavity. FNAC showed loose clusters of epithelioid cells with splayed cytoplasm, focal whorling, and occasional psammoma bodies suggestive of meningioma. This case highlights the importance of FNAC in diagnosing meningioma when encountering similar morphology at a rare location.

Oral Focal Mucinosis of the Tongue: A Rare Localization for a Rare Entity.

Oral focal mucinosis (OFM) is a rare connective tissue disorder that is characterized by the excessive production of hyaluronic acid due to myxoid degeneration of submucosal connective tissue. The disorder typically presents as an asymptomatic nodule or mass in the gingiva or hard palate, and OFM of the tongue is even more unusual. In this report, we present a case of OFM on the tongue in a 72-year-old female patient who presented with a symptomatic lump that had been growing for 6 months on the dorsum of her tongue. The patient reported discomfort and pain while speaking and swallowing, and the lump was visually apparent on examination. OFM is a benign condition that does not have any specific clinical or radiographical features that distinguish it from other more common oral lesions, such as lipoma or fibroma. Therefore, histopathological examination is essential for a definitive diagnosis. The management of OFM typically involves surgical excision of the lesion. In this case, complete surgical removal of the lesion under general anesthesia was performed, and the patient was followed up for 10 months postoperatively. During the follow-up period, there was no evidence of recurrence, and the patient reported significant improvement in her symptoms. In conclusion, OFM is a rare connective tissue disorder that can occur in the oral cavity. Although OFM of the tongue is even rarer, it should be considered in the differential diagnosis of oral lesions. Histopathological examination is essential for definitive diagnosis, and surgical excision is typically the preferred treatment modality.

A Rare Localization of an Ingested Foreign Body: Passage from the Esophagus to the Thyroid

A Rare Localization of an Ingested Foreign Body: Passage from the Esophagus to the Thyroid

The state of oncology care in Russia: children (0–14 years old), morbidity, mortality, year-by-year lethality (populated study at the federal district level). Part I

Relevance. Malignant tumors among the children’s population is a relatively rare phenomenon. In the USSR, the form of state reporting for the analysis of morbidity provided for the collection of data in the first age group totaling from 0 to 29 years. Indeed, in this age group, malignant tumors are rare 10–15 cases per 100,000 children. Then, after the 35-year-old group, the risk of cancer increases by 10 % every year, and a five-year period gives an increase in the incidence rate by 50–70 %. The probability of malignant tumors in younger age groups differs hundreds of times from those who have reached the age of 70. In accordance with World Health Organization – IARC recommendations, the data in IARC monographs are summarized for 5-year-old age groups 0–4, 5–9, 10–14, 15–19, etc. The last open interval is 85+.Prepared by the staff of the Laboratory of Oncological Statistics and the Children’s Department of the N.N. Petrov National Medical Research Center of Oncology together with Novel LLC, the completed topic of scientific development of the population children’s cancer registry at the federal district level, transmitted and accepted by the Ministry of Health of the Russian Federation, turned out to be unclaimed.In February 2019, we formed a unified database of the Northwestern Federal District with a volume of more than 1 million 350 thousand observations, which made it possible to carry out a more detailed development of data on rare localizations: cancer of the heart, eye, thymus, including rare tumors that occur among children population (0–14 years old) and adolescents (15–17 years old). The purpose of the study is to study the patterns of dynamics of morbidity, mortality, the reliability of accounting for sick children (0–14 years old) at the population level, to calculate the survival rates of patients with all tumor localizations, taking into account gender, age, stage of the disease, histological forms and other parameters included in the registration form card (in accordance with the international standard of the Eurocare program). Results. From 2000 to 2018, 4970 children (0–14 years old) with malignant tumors were registered in the Northwestern Federal District of the Russian Federation, of which 3011 are subject to the staging of the tumor process. It is important to note that among all children of patients with malignant tumors, the five-year survival rate of stageable and non-stageable patients was close to 80 %. There is a high level of staging of patients of this group. Thus, patients with stage I of the disease had a five-year survival rate (2010–2014) – 96.3 %, with II – 91.0 % and only with stage IV – 50.9 %.Conclusions. The creation of a children’s population cancer registry at the federal district level could significantly raise the level of primary registration of malignant tumors, eliminate losses and be able to calculate analytical indicators for rare childhood localization of malignant tumors.

Isolated Sacral Tuberculosis: A Case Report and Review of Literature of this Rare Sacral Pathology

Introduction: Tuberculosis (TB) of the spine is one of the rare secondary manifestations of the disease, while isolated TB of the sacrum is an even rarer finding of the disease. Case: The authors present the case of a male patient in their late 20s who was suffering from lower back pain radiating to the leg, on and off fever for 5 months, and stiffness of the lower back. X-ray and MRI showed a sacral mass-like lesion, which led to the suspicion of spinal TB. This diagnosis was later confirmed through adequate microbiological testing. Methods and Materials: A review of literature by a thorough search of the PubMed and Google Scholar databases was carried out, and a total of 42 patients with isolated TB of the sacrum were studied. Results and Conclusions: Sacrum in isolation is a rare location for spinal TB, often overlooked by primary physicians. A prompt diagnosis and early treatment of the disease will mitigate the risk of developing complications.

Epidermoid cyst of the brain: A common cystic lesion in rare location

Epidermoid cysts are common benign tumors comprising around 1% and 2% of all intracranial tumors. Their usual locations include the parasellar region and cerebellopontine angle, and less commonly, the Sylvian fissure, suprasellar region, cerebral, and cerebellar hemispheres. Epidermoid cysts located in the brain stem are rare. These epidermoid cysts are similar to epidermoids arising in the skin which contain cheesy and flaky-white soft pultaceous material. Epidermoid cysts are very slow-growing tumors having a similar growth pattern of the epidermal cells of the skin and develop from the remnants of epidermal elements during the closure of the neural groove and disjunction of the surface ectoderm with neural ectoderm between the 3rd and 5th weeks of embryonic life. The ideal treatment of choice is the removal of cystic components with the complete resection of the capsule. We are presenting an interesting case of an epidermoid cyst in the frontal lobe in a 42-year-old male along with radiological investigations.

Immunocytochemistry as an Ancillary Technique in the Cytologic Diagnosis of Synovial Sarcoma: Lock With Cell Block

Introduction: Synovial sarcomas are rare tumors accounting for approximately 5-10% of soft tissue sarcomas. For synovial sarcomas that arise at unusual locations, cytologic diagnosis is challenging despite characteristic cytomorphologic features.
 Material and Methods: The use of ancillary diagnostic procedures such as immunocytochemistry (ICC) using cell blocks and molecular genetic techniques using aspirated material help in the confirmation of diagnosis. During the period of 18 months from Nov 16 to Feb 18 we reported three cases of SS that occurred in rare locations with the help of ICC on cell blocks in 2 cases and IHC in the third case.
 Results: Cells arranged in bundles, perivascular arrangement, tight clusters, acini & singly. Cells are elongated, oval to spindle, presence of uni or bipolar cytoplasmic processes with mildly pleomorphic , hyperchromatic nuclei & fine granular chromatin. TLE1 was positive in all 3 cases.
 Conclusion: TLE1 marker is an extremely useful marker that distinguishes SS from other cytological & histological mimics.
 The objective of the present study was to call attention and also highlight the variable cytology of synovial sarcoma arising at rare locations. Furthermore, we discuss use of adjunctive ICC on cell blocks that help to lock the diagnosis.

Xanthoma of rib: a case report and review of the literature

BackgroundXanthomas are well-circumscribed benign proliferative lesions seen mainly in soft tissues. Usually, they are found in hyperlipidemia and familial hyperlipoproteinemia. Histologically, are characterized by macrophage-like mononuclear cells, multinucleated giant cells and abundant foam cells. The bone involvement, however, is notoriously rare and rib localization is extremely rare.Case presentationA 55-year-old man performed a chest X-ray and a subsequent chest Computed Tomography scan showing a rib lesion that was surgically removed and a diagnosis of rib xanthoma was made. The patient presented an unknown condition of hyperlipidemia.ConclusionRib xanthoma can be discovered accidentally and can be helpful in identifying an unrecognized condition of hyperlipidemia.

Calcaneus as a Rare Location of Solitary Osteochondromas: Two Case Reports.

Osteochondromas are the most common benign bone tumors, with an incidence of 36% to 41% among benign bone tumors. They can be caused by genetics, trauma, and growth defects. The incidence of all osteochondromas in the hands and feet is approximately 10%, and they are extremely rare in the calcaneus. They generally arise from the metaphysis and metaphyseal-diaphyseal region of the long bones. Osteochondromas, which are generally painless, are noted with signs of inflammation in the bursa, vascular and nerve compression, pain caused by joint deterioration, swelling in the subcutaneous tissue, or gait disturbance. The incidence of malignant transformation of solitary osteochondromas is 1%. We present two cases, an 11-year-old male patient and a 32-year-old male patient, diagnosed with osteochondroma in the calcaneus.

Acute myeloid leukemia relapsing in the vitreous

A 47-year-old female was a known case of acute myeloid leukemia (AML-M5) and presented with a diminution of vision in the right eye (OD) for two weeks. Examination revealed pigmented cells in the anterior vitreous of both eyes with vitritis OD. She was further treated with vitreous biopsy and diagnostic vitrectomy under air OD. The cytology examination of the vitreous biopsy revealed infiltration with myeloblasts confirming the diagnosis of extramedullary relapse of AML inside the vitreous. She was further treated with intrathecal chemotherapy. She did not have any further relapse till two years after her last follow-up. This case highlights a rare location of extramedullary relapse of AML inside the vitreous which has not been reported as per the literature search. Moreover, diagnostic vitrectomy under air helped in getting more undiluted vitreous fluid, which also helped in confirming the relapse with cytology examination.