Cystic adventitial disease of the popliteal artery: A case report with review of literature.

INTRODUCTION AND IMPORTANCE: Cystic adventitial disease (CAD) is a rare vascular disorder marked by occlusion stemming from the development of a cystic mass within the outer (subadventitial) layer, with a predominant impact on the popliteal artery. The significance of the case presented herein lies in shedding light on a distinct clinical manifestation involving a 40-year-old man who exhibited sporadic calf claudication during ambulation. This instance contributes to the broader understanding of CAD and its diverse clinical presentations, emphasizing the need for further exploration and awareness within the medical community. CASE PRESENTATION: A 40-year-old man, with no significant past medical history, was referred to the cardiovascular department for the evaluation of a new onset of left calf pain persisting over the past three months. An arterial lower limb Doppler ultrasound was performed, revealing a focal hypoechoic image around the popliteal artery with a regular arterial wall, indicative of extrinsic compression. This resulted in significant stenosis of the popliteal artery during plantar flexion of the foot. The diagnosis of CAD of the left popliteal artery was established after limb computed tomography angiography, and a complete resection of the cyst was scheduled. The postoperative course was uneventful, with the patient experiencing relief from left calf claudication. CLINICAL DISCUSSION: CAD is an uncommon vascular anomaly, representing merely 0.1 % of all vascular conditions. This condition predominantly afflicts men aged between 40 and 50 years old. The etiology of CAD remains a subject of debate, with pathological findings typically involving intramural cysts containing gelatinous material between the media and the adventitia. Surgical intervention becomes necessary when symptoms arise. CONCLUSION: CAD of the popliteal artery, though rare, is a significant contributor to peripheral vascular insufficiency in young patients without typical atherosclerotic risk factors.

Supra-sellar granular cell tumor: Report of a case with literature review.

INTRODUCTION AND IMPORTANCE: Granular cell tumor (GCT) originating from the sellar and suprasellar regions, specifically from the neurohypophysis, is a rare neoplasm. Distinguishing GCT from other pituitary tumors, including pituitary adenoma, pituicytoma, and spindle cell oncocytoma, poses significant challenges. Here, we present a rare case of GCT originating from the posterior pituitary in the supra-sellar region. CASE PRESENTATION: A 41-year-old woman, with no past medical history, presented to neurology department with decreased visual acuity and peripheral facial paralysis since 3 months. The MRI showed a well-defined supra-sellar, retrochiasmatic, oblong, hypothalamic expansive process. It was isointense T1-weighted, discretely hypotensive T2-weighted, measuring 19x17x16 mm, suggesting pituicytoma or craniopharyngioma. An endoscopic transsphenoidal surgical resection was performed. Microscopic examination showed a proliferation of diffuse architecture made up of rounded polyhedral cells with granular eosinophilic cytoplasm. On immunohistochemistry, tumor cells expressed diffusely TTF1, S-100 protein and SOX-10 confirming the diagnosis of supra-sellar GCT. DISCUSSION AND CONCLUSION: GCTs are rare neoplasms that predominantly exhibit benign behavior, while the malignancy rate remains at 2 %. Histopathology serves as the definitive diagnostic approach for GCTs. These tumors are resistant to radiotherapy and chemotherapy, necessitating surgical resection as the primary treatment modality. Due to the potential absence of distinct tumor masses and local tissue infiltration by tumor cells, complete excision is crucial, with resection extent extending beyond areas of infiltration.

The enigmatic ear: Unveiling a rare case of a primary cutaneous CD8+ acral T-cell lymphoproliferative disorder with a literature review.

Introduction: Primary cutaneous CD8+ acral T-cell lymphoproliferative disorder (CD8+ ATCLPD) is a rare form of cutaneous T-cell lymphoma that commonly presents on the acral regions of the body. We report a case of a 61-year-old man diagnosed with primary cutaneous CD8+ ATCLPD of the ear. Case presentation: A 61-year-old man presented with a non-healing, erythematous painful macule on the ear that had been evolving for the past 3 months. The lesion was resected, and histopathological examination revealed a primary cutaneous CD8+ ATCLPD with acral localization. Further investigations including CT scan of the thorax, abdomen and pelvis were done to stage the disease. The results showed no extracutaneous involvement. Conclusion: Accurate identification of primary cutaneous CD8+ ATCLPD is crucial due to its distinct prognostic and therapeutic implications compared to other CD8+ cytotoxic lymphoid proliferations. Primary cutaneous CD8+ ATCLPD can be treated conservatively and typically follows a slow clinical course, regardless of the treatment method. Understanding the clinical context, as well as the morphological and immunophenotypic characteristics, can assist in making a precise diagnosis.

Calcifying pseudoneoplasm of the neuraxis (CAPNON): Unraveling a rare non-neoplastic calcified central nervous system lesion.

INTRODUCTION AND IMPORTANCE: Calcifying pseudoneoplasms of the neuraxis (CAPNON) are infrequent benign brain tumors. They demonstrate slow growth and are characterized by calcium deposits within the tumor tissue. CAPNONs are observed in the supratentorial compartment of the brain. Due to their rarity, increasing knowledge of CAPNONs is essential for accurate diagnosis and effective management of affected patients. This report describes a case of CAPNON diagnosed in a 56-year-old female and discusses the clinical, imaging, and histopathological findings of this rare entity. CASE PRESENTATION: A 56-year-old female presented with a history of recurrent holocranial headache and dizziness, progressively worsening over the last month. Physical and neurological examinations revealed no evident abnormalities. Brain magnetic resonance imaging revealed a calcified and cystic mass, measuring 40 × 32 mm in the right frontal lobe. Complete excision of the mass was done. Histologically, the lesion was composed of glial tissue with abundant amorphous lamellar calcification and a myxoid matrix in the background. Concentric circular calcifications were observed with osseous metaplasia present in some areas. Palisading spindle to epithelioid cells was noted around the lesion. The final diagnosis was CAPNON. The postoperative course was uneventful, and one year of follow-up revealed no signs of recurrence. DISCUSSION: CAPNON typically occurs in middle-aged adults and can present with variable symptoms depending on its location within the brain, including seizures, headaches, or neurological deficits. Surgical resection is considered the optimal treatment for CAPNON. Raising awareness and understanding of this rare entity is necessary for accurate diagnosis and management of patients affected by this condition.

Unusual presentation of uterine tumors resembling ovarian sex cord tumor: A rare case report of cervical involvement.

INTRODUCTION AND IMPORTANCE: Cervical localization of uterine tumor resembling an ovarian sex cord tumor is very rare (UTROSCT) and this is the third case reported in the English literature. Given its rarity, the diagnosis is frequently challenging. Our aim was to discuss pathological characteristics and treatment choices of this rare disease happening in a rare location. CASE PRESENTATION: Our case interested a 19-year-old female patient who presented with a lower abdominal pain and irregular menstrual cycles for a duration of two months. Gynecological examination revealed a cervical firm mass. The patient underwent a cervical lumpectomy. Microscopically, the tumor had nested and trabecular/cord patterns. Tumor cells had abundant cytoplasm, ovoid and spindle-shaped nuclei with fine chromatin. Mitoses were < 1/10 HPFs. A delicate vascular network of small capillaries was noted. Immunohistochemical staining showed that tumor cells were positive for Calretinin, AE1/AE3, Desmin, progesteron receptors, SMA and h-caldesmon. Pathological examination concluded to an UTROSCT. CLINICAL DISCUSSION: UTROSC is a rare tumor with only two cases with cervical involvement reported so far. They have an indolent clinical history and thus require a more cautious and less invasive therapeutic decision. The diagnosis remains on the pathological examination. CONCLUSION: This case is original by its location and the age of presentation. Careful follow-up is necessary searching for local recurrence or metastasis.

Adrenal neuroblastoma in three year old boy, mistaken for pancreatic tumor: A case report.

Neuroblastoma is the most common extracranial solid tumor in children, often manifests in the retroperitoneal region. We present a case of a 3-year-old boy with no previous medical history, presented for abdominal distension. Physical examination revealed a distinct, mobile, solid mass situated in the left lumbar region. Abdominal magnetic resonance imaging displayed a well delimited, well-encapsulated mass attached to the tail of the pancreas. Urinary catecholamine metabolite levels were negative. Surgical exploration revealed that the tumor was primitively related to the left adrenal gland, and a complete resection was performed. The postoperative recovery was uncomplicated. NMYC oncogene was non-amplified.

Pathologic complete response to neoadjuvant imatinib of a gastric stromal tumor with concomitant mutations in KIT: A case report and literature review.

Key clinical message: We report the first case of pathologic complete response (pCR) to neoadjuvant imatinib in a gastric stromal tumor harboring KIT mutations in both exons 11 and 9. The significance of this co-occurrence is unknown and might increase the responsiveness of gastrointestinal stromal tumors (GISTs) to imatinib. Abstract: pCR of GIST to neoadjuvant imatinib is rare. We report a case of pCR to neoadjuvant imatinib in a gastric stromal tumor that harbored co-occurrence of multiple KIT mutations in exons 11 and 9. This co-occurrence in exons 9 and 11 is the first to be reported in the English literature.

PIK3CA mutations in breast cancer: A Tunisian series.

BACKGROUND: The aim of this study was to analyze PIK3CA mutations in exons 9 and 20 in breast cancers (BCs) and their association with clinicopathological characteristics. METHODS: Mutational analysis of PIK3CA exon 9 and 20 was performed by Sanger sequencing in 54 primary BCs of Tunisian women. The associations of PIK3CA mutations with clinicopathological characteristics were analyzed. RESULTS: Fifteen exon 9 and exon 20 PIK3CA variants were identified in 33/54 cases (61%). PIK3CA mutations including pathogenic (class 5/Tier I) or likely pathogenic (class 4/Tier II) occurred in 24/54 cases (44%): 17/24 cases (71%) in exon 9, 5/24 cases (21%) in exon 20 and 2/24 cases (8%) in both exons. Of these 24 cases, 18 (75%) carried at least one of the three hot spot mutations: E545K (in 8 cases), H1047R (in 4 cases), E542K (in 3 cases), E545K/E542K (in one case), E545K/H1047R (in one case) and P539R/H1047R (in one case). Pathogenic PIK3CA mutations were associated with negative lymph node status (p = 0.027). Age distribution, histological SBR tumor grading, estrogen and progesterone receptors, human epidermal growth factor receptor 2, and molecular classification were not correlated with PIK3CA mutations (p > 0.05). CONCLUSION: The frequency of somatic PIK3CA mutations in BCs of Tunisian women is slightly higher than that of BCs of Caucasian women and more observed in exon 9 than in exon 20. PIK3CA mutated status is associated with negative lymph node status. These data need to be confirmed in larger series.

An incidental discovery of a gastric follicular dendritic cell sarcoma: A rare case report and a literature review.

Introduction: Follicular dendritic cell sarcomas (FDCS) are rare tumours, typically seen in lymph nodes. However, in about one third of the reported cases, a FDCS presents as an extranodal mass. Involvement of the gastrointestinal tract is rare, and the stomach is even rarer with only four cases described to date. The aim of this study was to review clinical characteristics, pathologic features, emphasize on differential diagnosis and discuss therapeutic modalities and prognosis of this rare entity.Case presentation: We report on a 36-year-old female patient with no past medical history, an incidentally discovered FDCS located in the stomach with the presence of lymph node metastasis at the time of diagnosis. The diagnosis of a FDCS was made on morphological and immunohistochemical findings where tumor cells expressed CD21 and CD23. The tumor was resected by gastrectomy with extended para-aortic lymphadenectomy, with uneventful postoperative course.Conclusions: Due to its rarity, FDCS is rarely included in the differential diagnosis of gastrointestinal spindle cell tumors. Complete surgical resection is the current gold standard of treatment.

Pathologically confirmed women's breast cancer: A descriptive study of Tunisian and Algerian series.

BACKGROUND: Breast cancer (BC) is the most frequent malignancy among women in Tunisia and Algeria. Clinical and pathological characteristics of this cancer among these populations are not widely reported. The aim of the study was to report clinical and pathological characteristics of women's BC in a Tunisian and Algerian series. METHODS: Pathologically confirmed 1089 BCs were gathered in the pathology departments of three Northern Tunisian hospitals: Tunis military, Charles Nicolle and Jendouba and in the pathology department of Alger Douera hospital between January 2015 and December 2020. Clinical and pathological findings of the two series: age, tumor size, histological type, grading according to Scarff-Bloom Richardson grading system, lymph node status at the time of diagnosis in axillary lymphadenectomy specimens and the immunohistochemical expression of estrogen and progesterone receptors (ER/PR), HER2 and Ki-67, were collected from the pathological reports. RESULTS: The median age at diagnosis was 50 and 48 years in Tunisian and Algerian series, respectively (p = 0.016). The diagnosis of BC was made on surgical specimens (lumpectomy or mastectomy) in 373/491 (76%) cases of the Tunisian series and in 225/598 (37.6%) cases of the Algerian one. Median tumor size was 2.8 cm and 2.5 cm in Algerian and Tunisian series, respectively (p = 0.252). Invasive BCs not otherwise specified was observed in 440/481 (91.5%) BCs in Tunisian series and in 519/586 (88.6%) BCs in Algerian series. Axillary lymph node positive tumors were observed in 64.6% and 58.8% of Tunisian and Algerian women, respectively (p = 0.926). BCs were ER positive in 311/385 (80.8%) and 486/571 (85.1%) cases and HER2 positive in 86/283 (30.4%) and 60/385 (15.6%) cases of Tunisian and Algerian series, respectively. CONCLUSIONS: In Tunisia and Algeria, BC has poor prognostic factors with large tumor sizes and high rates of lymph nodes involvement at diagnosis.

Type II pleuropulmonary blastoma mistaken for rhabdomyosarcoma: A case report.

INTRODUCTION: Pleuropulmonary blastoma (PPB) is rare, representing 0.3 % of all pediatric cancers. PPB is classified into three subtypes and may progress from type I to types II and III, with a worse prognosis. Given its rarity, the diagnosis is frequently challenging. CASE PRESENTATION: We report an occurrence of PPB in a 3-year-old girl, who presented recurrent pneumopathy. Imaging investigations revealed a large solid lesion in the left hemithorax. Biopsy followed by histological analysis suggested rhabdomyosarcoma. The patient received neoadjuvant chemotherapy before proceeding to complete tumor excision. Surgical exploration revealed that the tumor was primitively related to parietal pleura and lower lobe of left lung. Histopathology of the tumor retained a definitive diagnosis of PPB type II. Postoperative course was uneventful, and a cerebral MRI ruled out brain metastasis. Adjuvant chemotherapy was administered. DISCUSSION: Clinical expression of PPB is nonspecific and variable. It ranges from a dry cough to respiratory distress. Standard radiography is the first examination to perform and CT is the gold standard for characterization thoracic masses. Surgery and chemotherapy are the pillars of treatment. Indications depend on the tumor type, its extent and its resectability. CONCLUSION: PPB is an aggressive tumor that occurs only in children. Due to the rarity of PPB, evidence on optimal treatment is still insufficient. Careful follow-up is necessary searching for local recurrence or metastasis.

A rare case report of a myxoid liposarcoma arising from the broad ligament.

Myxoid liposarcoma (MLPS) is the second most prevalent subtype of liposarcoma. It is usually found in the deep tissues of the lower limbs and rarely in gynecologic tract. Herein we present the second case in the English literature of a primary MLPS arising from the broad ligament which was thought to be a borderline ovarian tumor. The aim is to discuss its clinical and pathological characteristics. A 42-year-old woman presented with pelvic pain for the last 6 months. Magnetic resonance imaging was not specific. She underwent a surgical resection of the tumor mass, and pathological examination confirmed the diagnosis of MLPS deriving from the broad ligament. She received radiotherapy and the patient is doing well at 3 months follow-up. The clinical aspects, pathological diagnosis, prognosis, and therapy approach of broad ligament MLPS are all poorly understood. Complete surgical resection with or without radiotherapy is the mainstay of treatment in located MLPS.

Low-grade fibromyxoid sarcoma of the vulva presenting as a cystic mass: A case report and review of literature.

INTRODUCTION: Low-grade fibromyxoid sarcoma (LGFMS) is a tumor with a propensity for late recurrence which is rarely described in the vulva. CASE PRESENTATION: A 22-year-old woman presented with a growing right vulvar cystic mass that had been present for 2 months. She underwent surgical wide excision. The final pathologic diagnosis revealed LGFMS of the vulva and a right radical hemivulvectomy with negative margins was performed. RESULTS: The patient has not experienced a local or metastatic recurrence after 2-years follow- up. CONCLUSIONS: Despite being rare, LGFMS of the vulva should be taken into account when making a diagnosis of vulvar lesions. Definite diagnosis is based on pathological examination. MUC4 positivity is characteristically expressed. To prevent future recurrences, radical excision is necessary.

Pseudomyogenic hemangioendothelioma: A misleading vascular tumor.

INTRODUCTION: Pseudomyogenic hemangioendothelioma (PHE) is a rare vascular soft tissue tumor of intermediate malignancy. The aim of this study was to present a rare case of PHE in the back and to review its clinicopathological features, therapeutic modalities, evolutionary aspects and prognosis. CASE PRESENTATION: We report the case of a 21-year-old man who consulted for a multinodular mass at the scapula level, that increased in size within 2 months. An excisional surgery was performed. Macroscopic examination showed ulcerated centimetric nodules with a crusty surface. Microscopic examination showed a multinodular proliferation arranged in clusters, made of spindle cells or epithelioid cells with variable atypia. Immunohistochemical study showed the expression ofAE1-AE3, ERG and INI-1. There was no staining for EMA, CD34, and CD-31. The diagnosis of PHE was retained. DISCUSSION: PHE affects young adult males and usually develops in the extremities. Clinically, more than half of the patients present with local recurrence. Distant metastases have also been reported. Microscopically, PHE resembles a myoid tumor or epithelioid sarcoma because of the abundant eosinophilic cytoplasm and cell shape. Tumor cells express cytokeratin and inconsistently CD34 and CD31. Hence the need to complete the study of ERG and INI1 expression in all soft tissue epithelioid tumors. The translocation t(7;19)(q22; q13) as well as the expression of FOSB in immunohistochemistry allow to differentiate with epithelioid sarcoma. Surgery is the treatment option. CONCLUSION: PHE is a confusing entity with several mesenchymal neoplasms that must be carefully differentiated. Data regarding age, sex, location, course, and recurrence are important for proper diagnosis.

A lesion of the patella: An unexpected location of Rosai-Dorfman disease: A case report.

INTRODUCTION: Primary osseous Rosai-Dorfman disease (RDD) is a rare and benign disease that can pose diagnosis challenges. PRESENTATION OF THE CASE: We report the case of a 29-year-old woman who presented with pain in her left patellar region for the past 6 months with no other clinical sign especially no lymphadenopathy associated. A surgical excision was done. Histopathology confirmed the diagnosis of a primary RDD patellar disease. The patient was followed up for 2 months without any recurrence. The aim of this study was to present a rare case of RDD in a patellar location and to review clinicopathological features, therapeutic modalities, evolutionary aspects and prognosis of a primary patellar RDD. DISCUSSION AND CONCLUSION: The diagnosis of a primary osseous RDD without associated lymphadenopathy should be kept in mind when a sclero-lytic lesion is found. Excision of the lesion is the gold standard of the treatment.