Rare Case of Recurrent Adamantinoma of the Tibia: Limited Efficacy of Pazopanib as a Standalone Treatment.

BACKGROUND Adamantinoma is a rare low-grade malignant bone tumor, usually found in the tibial diaphysis and metaphysis, with histological similarities to mandibular ameloblastoma. The most effective treatment of recurrent adamantinoma is not yet clear. This report is of a 22-year-old woman with recurrent tibial adamantinoma treated with the tyrosine kinase inhibitor pazopanib. CASE REPORT We report the case of a 22-year-old woman who was referred to our center for a suspicious bone lesion in the right tibia. Bone biopsy findings were consistent with an adamantinoma. En bloc resection was completed successfully, with no postoperative complications. Five years later, a positive emission tomography scan revealed mildly increased tracer uptake near the area of the previous lesion and in the right inguinal lymph node. Biopsies of the lesion and inguinal lymph node confirmed recurrence of the adamantinoma. Due to abdominal and pelvic metastasis, the patient underwent surgical debulking, along with an appendectomy, right salpingo-oophorectomy, intraoperative radiation therapy, and hyperthermic intraperitoneal chemotherapy. Subsequently, the patient was placed on pazopanib for 4 months; however, her tumor continued to worsen after 4 months of chemotherapy. Currently, the patient is receiving gemcitabine and docetaxel as second-line medical therapy. CONCLUSIONS This report showed that pazopanib as standalone treatment does not appear to have promising role on patient outcomes. To the best of our knowledge, this is the second report of pazopanib in the treatment of adamantinoma.

Magnetic Resonance Imaging Features of Congenital Infantile Fibrosarcoma.

Background Congenital/infantile fibrosarcoma is a rare soft tissue tumor presented in early age of life. It should be considered in the differential diagnosis of the large soft tissue masses especially in the extremities at the age of infancy. These tumors frequently are misdiagnosed at birth as hemangioma. Histologically, they can resemble their adult counterparts and they are characterized by the chromosomal translocation t(12;15) (p13;q25) resulting in the ETV6-NTRK3 gene fusion. Objective A retrospective review of the MRI features of histopathology-proven congenital/infantile fibrosarcoma provides our own institutional experience and supports the limited radiology literature written about this disease. Material and method The list of our patients is obtained after reviewing our radiology and pathology database in the period between June 1st, 2007 and May 31st, 2017 (10 years) at King Faisal Specialist Hospital & Research Center, Riyadh. Phrases used to search in our MRI examinations database are: congenital infantile fibrosarcoma, infantile fibrosarcoma, juvenile fibrosarcoma, soft tissue sarcoma, malignant soft tissue mass, sarcomatous soft tissue mass, fibrosarcoma, spindle cell sarcoma, myomatous sarcoma. Result In our database and picture archiving and communication system (PACS) during the period of the study, the word (fibrosarcoma) was mentioned in the radiology report of 182 patients. Only four cases were histopathologically proven to be a congenital/infantile fibrosarcoma and had completed their own MR exams - three of them were primary/new cases, males with an age range between 0 days and 5 months (median age: 5 months). The fourth case was a female with a history of 1st presentation at the age of one month and proved by histopathology examination but there was no available imaging at that time; however, tumor recurrence in the same patient was at the age of 4 years with available MR imaging and pathology sample. Conclusion Congenital infantile fibrosarcoma is a rare entity that has no specific MRI findings. However, it should be always considered as part of the differential diagnosis of congenital soft tissue masses with aggressive behavior.

The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report.

Genetic defects of SLC29A3 result in a wide range of syndromic histiocytosis that encompasses H syndrome. Patients with SLC29A3 variants typically have hyperpigmentation, hypertrichosis, hepatosplenomegaly, sensorineural hearing loss, diabetes mellitus, and hypogonadism. Herein, we identify a novel phenotype in a girl presenting with clinical and laboratory findings similar to systemic juvenile arthritis and hyperferritinemia. Exome sequencing identified a homozygous variant in SLC29A3 (NM_018344.5: c.707C>T [p.T236M]). Our patient did not show the cardinal features of the broad spectrum of SLC29A3-related disorders. She demonstrated remarkable improvement in her clinical and laboratory manifestations after starting interleukin-1 blockade (Anakinra). Recent research suggests that SLC29A3-related disorders are accompanied with autoinflammation and autoimmunity due to an overactive inflammasome pathway, which is most likely induced by mitochondrial and lysosomal dysfunction. Hence, our findings may expand the phenotypic features of the SLC29A3 variant. Patients with the SLC29A3 variant and systemic inflammation may benefit from interleukin-1 blockade as a therapeutic option.

Acute abdomen secondary to perforated jejunal gastrointestinal stromal tumor and imatinib-related isolated pericardial effusion in a 50-year-old female patient: A case report and review of literature.

INTRODUCTION: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract; occurring most often in the stomach and to a lesser extent in the jejunum. The majority of the tumors express activating mutations in either c-KIT or PDGFRA tyrosine kinases, which respond to tyrosine kinase inhibitors (TKI). Jejunal GIST is considered to be extremely rare and challenging to diagnose due to its non-specific presentation. As a result, patients usually present at an advance stage of the disease, making the prognosis poor and difficult to manage. CASE PRESENTATION: In the present study, we report a 50-year-old female who was diagnosed with metastatic jejunal GIST. She was commenced on Imatinib (TKI) and shortly after she presented to the emergency department with an acute abdomen. A CT scan of the abdomen revealed ischemic changes in the jejunal loops and pneumoperitoneum. The patient required emergency laparotomy due to perforated GIST, and creation of pericardial window due to hemodynamic instability possibly secondary TKI-related isolated pericardial effusion. CONCLUSION: Jejunal GIST is rare and usually presents as emergency due to obstruction, hemorrhage or rarely perforation. Although, systemic therapy with TKI is the principal treatment for advance disease, Jejunal GIST should be removed surgically. It is surgically challenging due to the anatomical complexity of the tumor. Surgeons treating such patients must be cautious for TKI side effects.

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.

Aggressive gluteal fibromatosis: a rare case associated with spontaneous superior gluteal artery pseudoaneurysm.

Deep fibromatosis is a locally aggressive neoplasm commonly involving the extremities. Several authors have described imaging features and complications associated with deep fibromatosis. We present the case of a 33-year-old man who presented with a right gluteal fibrous mass identified on magnetic resonance imaging (MRI), which was associated with a pseudoaneurysm originating from the right superior gluteal artery on serial follow-up with MRI and computed tomography. No intervention was done, and after conservative management, spontaneous thrombosis of the pseudoaneurysm was developed. Such imaging finding is the first report of a spontaneous development of pseudoaneurysm caused by deep fibromatosis, which could be a life-threatening condition and should be considered when dealing with deep fibromatosis and deciding on the appropriate treatment.

Sacral chordoma with incidental rectal adenocarcinoma: a case report.

BACKGROUND: We report a unique case of synchronous sacrococcygeal chordoma in association with rectal invasive adenocarcinoma. Retrorectal tumors are a rare disease caused by a variety of pathologies. To our knowledge, no prior cases of such a coincidental finding of both cancers have been reported in the literature. CASE PRESENTATION: This is the case of a 74-year-old white middle eastern man, with known hypertension under treatment, who presented with complaints of progressive lower back pain associated with urinary incontinence over the past 12 months. Magnetic resonance imaging (MRI) of the pelvis showed a large midline, well-defined, oval-shaped lesion replacing the sacrococcygeal portion of the spine, with extension to the presacral region. Computed tomography (CT)-guided Tru-Cut biopsy revealed features suggestive of chordoma. At surgery, we performed excision of the entire mass en bloc, sacrectomy with rectus abdominis myocutaneous flap reconstruction and end sigmoid colostomy. Surgical histopathology proved it to be sacral dedifferentiated chordoma and rectal invasive adenocarcinoma. Overall, the patient recovered well postoperatively, was discharged home with functional stoma and on permanent Foley catheter use. CONCLUSION: To the best of our knowledge, this is the only reported case of such a presentation, and sheds light on the approach and management. We hope that reporting such a case will add value to the medical literature.

Nonmelanoma skin cancer in Saudi Arabia: single center experience.

BACKGROUND: Skin cancer is the most common cancer worldwide; one in every three diagnosed malignancies is a skin cancer. However, skin cancer is rarely reported in Saudi Arabia so we conducted this study to highlight these underreported neoplasms. OBJECTIVES: Determine the prevalence and patterns of basal cell carcinoma (BCC) and primary squamous cell carcinoma (SCC), the most common types of nonmelanoma skin cancer (NMSC) with respect to age, sex, and anatomic location and to identify potentially associated risk factors. DESIGN: Retrospective, descriptive medical record review. SETTING: A tertiary care centre. PATIENTS AND METHODS: We did a retrospective chart review of all patients diagnosed with basal cell carcinoma and primary squamous cell carcinoma between 2003-2016. MAIN OUTCOME MEASURES: Prevalence and pattern of BCC and SCC with respect to age, sex, and anatomic location. RESULTS: Of 593 cases reviewed, 279 had NMSC. Most (95%) were diagnosed with BCC or SCC or both in a few cases. The mean age at diagnosis was 59 (19.5) years. Sixty-two percent of the patients were males. However, 24.3% (n=68) of skin cancers occurred in patients younger than 50 years. The frequency of BCC and SCC was 50.2% and 44.8%, respectively. The head and neck was the most common location (79.6%). In patients younger than 50 years, xeroderma pigmentosum and previously treated solid malignancies were the major factors. CONCLUSIONS: BCC and SCC are uncommon but not rare. However, skin cancers are underreported in our population. NMSC in individuals younger than 50 years of age requires more careful evaluation of possible risk factors. LIMITATIONS: Retrospective in a single tertiary care setting.

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

OBJECTIVE: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q deficient systemic lupus erythematosus (SLE). MATERIALS AND METHODS: This is a retrospective case series of patients with CANDLE syndrome and C1q deficient SLE seen at a single tertiary hospital. Medical records were reviewed for demographic data, clinical and laboratory features, histopathology and imaging findings, and response to therapeutic intervention. Descriptive data were summarized. RESULTS: Three patients from unrelated families fulfilled the clinical manifestations of CANDLE syndrome. The disease onset was within the first 4 months of age. Two patients had uncommon features including uveitis, pulmonary involvement, aseptic meningitis and global delay. Skin biopsy showed heterogeneous findings. Genomic DNA screening was homozygous for mutation in PSMB8, (NM_004159.4:c.212C>T, p.T71M) in one patient and inconclusive for the other two patients. The comparison group was three patients with familial C1q deficient SLE from three unrelated families, who were born to consanguineous parents with at least one affected sibling. They presented with extensive mucocutaneous lesions, discoid rash and scarring alopecia. They required frequent admissions due to infections. CONCLUSION: This is the first report of CANDLE syndrome in an Arab population; our patients had heterogeneous phenotypic and genetic features with overlap manifestations with C1q deficient SLE. Both are monogenic interferonopathies. However, C1q deficient SLE had more systemic inflammatory disease.