Mediastinal Germ Cell Tumor and Acute Megakaryoblastic Leukemia With Co-occurring KRAS Mutation and Complex Cytogenetics.

Young males have a unique but rare predilection to develop mediastinal nonseminomatous germ cell tumors (NSGCTs) and concomitant acute megakaryoblastic leukemia (AMKL). Common cytogenetic and molecular abnormalities such as isochromosome 12p and somatic Tumor Protein P53(TP53) and Phosphatase And Tensin Homolog (PTEN) mutations have been reported in the presumed mutual neoplastic clones of origin. We report the case of a 17-year-old male who presented with a mediastinal NSGCT with high-grade sarcomatous transformation and a diagnosis of AMKL approximately 4 months later. Next-generation sequencing revealed identical KRAS Proto-Oncogene, GTPase (KRAS) p.Ala146Thr, TP53 p.Leu257Pro, and PTEN p.Leu181Pro missense mutations at similar variant allele frequencies in both the NSGCT and AMKL samples. Cytogenetic and microarray analyses detected shared copy gains in all chromosomes except chromosomes 9, 13, and Y. Multiple additional clonal chromosomal alterations were detected in the AMKL sample when compared with the NSGCT. This case emphasizes the shared clonal origins of these malignancies and identifies KRAS and other copy number alterations as potential molecular drivers in a subset of these combined diseases.

Recurrence of cutaneous coccidioidomycosis 6 years after valley fever: A case presentation and literature review.

Coccidioidomycosis is usually acquired by inhalation of spores of Coccidioides immitis and C. posadasii. The disease ranges from a self-limited acute pneumonia (Valley Fever) to a disseminated disease. We present a 44-year-old healthy male who had patchy hair loss of several months duration resembling discoid lupus. He developed a firm non-scaly red plaque on the right forehead. Initial biopsy showed spongiotic dermatitis, and he was treated with systemic steroids. He then developed forehead and periorbital cellulitis and was treated with systemic antibiotics. A second biopsy showed fungal hyphae, and he was treated with itraconazole 200mg bid for 4months beyond clinical resolution. A year later, he presented with intermittent swelling of the right forehead lesion and worsening of the scalp lesions. A forehead biopsy showed interface dermatitis and negative PAS stain for fungi. Scalp biopsy was highly suggestive of discoid lupus and he was started on plaquenil. Many months later, a third biopsy showed fungal infection, and the culture grew C. immitis. He was treated with itraconazole. Retrospectively, the patient gave a history of Valley fever 6 years back when he was in Arizona, USA.

Low grade fibromyxoid sarcoma: report of a case with fine needle aspiration cytology and histologic correlation.

BACKGROUND: Low grade fibromyxoid sarcoma has been fully described histologically; however, the fine needle aspiration (FNA) cytologic findings are scantily defined, and the distinction from other benign and malignant soft tissue tumors can be difficult. CASE: We examined FNA cytologic material from a slowly growing, large chest wall mass in a 28-year-old woman. The surgical specimen was processed for routine histology and immunohistochemical studies. The cytologic smears were adequately cellular, showing spindly cells with uniform, elongated nuclei; small, inconspicuous nucleoli; and scanty, wispy cytoplasm associated with myxoid material. No significant nuclear pleomorphism or mitoses were noted. The excised tumor was well circumscribed, focally infiltrating the surrounding muscles. The cut surface was variable, featuring fibrous, solid, fleshy and myxoid areas. Microscopically, the solid, fibrous areas displayed increased cellularity with storiform, intersecting and parallel patterns. In the myxoid areas the cells grew in a haphazard fashion and appeared floating in abundant mucoid matrix associated with a capillary vascular network similar to the chicken-wire pattern seen in cases of myxoid liposarcoma. The tumor cells were spindly, with fusiform, uniform nuclei. Focal, moderate nuclear pleomorphism was noted. The mitotic index was low. The tumor cells were positive for vimentin, alpha-1-antitrypsin and lysozyme and negative for S-100, actin, desmin and CD34. CONCLUSION: Although low grade fibromyxoid sarcoma is a rare neoplasm, it should be recognized and distinguished from other soft tissue tumors because of its low malignant potential. The definitive FNA cytologic diagnosis can be challenging but is possible if the tumor is adequately sampled, with multiple passes from different areas. Clinical and radiologic correlations are of great help. All spindle cell tumors with myxoid changes, such as myxoid liposarcoma, myxofibrosarcoma, cellular myxoma, myxoid leiomyosarcoma and peripheral nerve sheath tumors, should be considered in the differential diagnosis. In contrast to the cytologic features, the histologic findings are characteristic and well established.

Pattern of skin cancer among Saudi patients attending a tertiary care center in Dhahran, Eastern Province of Saudi Arabia. A 20-year retrospective study.

Skin cancer is the ninth most common malignancy in Saudi Arabia. It represented 3.2% of all newly diagnosed cancer cases in the year 2010. The aim of this study was to determine the epidemiology of skin cancer in relation to age, sex, and anatomic location among Saudi patients attending the Johns Hopkins Aramco Healthcare center in Dhahran, Eastern province of Saudi Arabia. We retrospectively reviewed the surgical pathology records of Saudi nationals from 1995 to 2014 at the Johns Hopkins Aramco Healthcare center, which directly provides for the healthcare needs of Saudi Aramco company employees and dependents in the Eastern Province of Saudi Arabia. Tumor metastases to skin, skin involvement by primary breast carcinoma, and B-cell leukemia/lymphoma with secondary involvement by skin were excluded. The total number of primary skin tumors was 204. The commonest cutaneous malignancies were basal cell carcinoma (36%) followed by squamous cell carcinoma (23%), with the head and neck being the commonest location for both tumors. Mycosis fungoides (MF) was the third most common malignancy (11%). Malignant melanoma was the fourth commonest skin malignancy (7%) with the lower extremities being the commonest location. The four most common skin cancers in our tertiary center in the Eastern Province of Saudi Arabia were squamous cell carcinoma, basal cell carcinoma, MF, and malignant melanoma. Other regions of Saudi Arabia report a similar pattern of skin cancers as our center, with MF having a higher frequency at our center.

Ciliated foregut cyst in the triangle of Calot: the first report.

Ciliated foregut cysts are rare anomalies arising from remnants of aberrant embryological development. Around 100 reports on the presence of these congenital masses in the tracheobronchial tree, mediastinum, liver, pancreas and, rarely, the gallbladder have been described. In this article, the case of a 33-year-old woman, who was operated for a laparoscopic cholecystectomy, is presented. During the dissection of the triangle of Calot, a cystic mass, attached to the common hepatic duct, was discovered incidentally. This cyst was dissected off the hepatic duct, and no communication between both structures was found. The histopathological diagnosis was consistent with a ciliated foregut cyst. The postoperative course was uneventful. After reviewing the literature on this pathological entity, we found that this is the first report of a ciliated foregut cyst that is located in the triangle of Calot and found separate from the biliary structures, the gallbladder and the liver. We present a review of the literature on this entity, discussing diagnostic measures and therapeutic options.

Granular Cell Tumor on the Chest of a 9-Year-Old Female: Case Report and a Retrospective Analysis.

BACKGROUND: Granular cell tumor is a benign tumor originating from Schwann cells. Children and adolescents are rarely affected. We report a 9-year-old female who presented with a cutaneous granular cell tumor on the chest. OBJECTIVE: To determine the incidence of granular cell tumor and proportion of tumors seen in the pediatric population at our center. METHODS: We retrospectively reviewed the surgical pathology records from 1997 to 2014 at our center. RESULTS: The incidence of granular cell tumor is five cases per million person-years (95% CI 3-8). Of the 18 cases, 9 cases occurred in the pediatric population. CONCLUSION: Fifty percent of granular cell tumor cases diagnosed at our center occurred in the pediatric population. Granular cell tumor may not be as rare as we expect in the pediatric population.

Mediastinal lipoblastomatosis: report of a case with complex karyotype and review of the literature.

Lipoblastoma or lipoblastomatosis is an uncommon fatty tumor seen in children up to the age of 5 years, with very rare exceptions above that age. It usually occurs in the extremities, but it can arise in other anatomical sites, including the head and neck area, trunk, mediastinum, mesentry, and retroperitoneum. We report a 9-month-old boy with mediastinal lipoblastomatosis showing unusually complex chromosomal aberrations. Five years following surgical excision that was incomplete as a result of the tumor's proximity to major blood vessels, the patient developed a recurrence of the tumor in the mediastinum with extension to the neck and spinal dura. We present a review of the literature related to mediastinal lipoblastoma and lipoblastomatosis and the chromosomal abnormalities of these tumors.

Gastrointestinal basidiobolomycosis: an unusual fungal infection mimicking colon cancer.

CONTEXT: -Basidiobolomycosis is a rare disease caused by the fungus Basidiobolus ranarum, an environmental saprophyte found worldwide. Patients with B ranarum infection may present with subcutaneous, gastrointestinal, or systemic lesions. Gastrointestinal basidiobolomycosis poses diagnostic difficulties, as its clinical presentation is nonspecific, with no identifiable risk factors. OBJECTIVE: -To discuss and compare the clinical features and histopathologic findings and other ancillary techniques that could be helpful in identifying gastrointestinal basidiobolomycosis. DESIGN: -We report 3 cases of gastrointestinal basidiobolomycosis and describe the clinical and morphologic findings while emphasizing the importance of identifying this unusual entity on endoscopic biopsies, thus avoiding unnecessary major surgeries. Fungal cultures were also performed, which are of diagnostic significance. Our first patient was lost to follow-up; however, patients 2 and 3 were followed up for 4 and 2 years, respectively. RESULTS: -In all 3 cases, patients presented with a clinical profile suggestive of malignancy. None of the patients gave any specific history. There was widespread abdominal disease with peritoneal involvement and colonic masses. Colonoscopic biopsy specimens showed nonspecific inflammation in 1 case; however, they showed only granulomatous inflammation in a second case and granulomas associated with fungal hyphae in a third. Typical morphology included hyphae, irregularly branched, thin-walled, occasionally septated and surrounded by a thick eosinophilic cuff (Splendore-Hoeppli phenomenon). CONCLUSION: -Gastrointestinal basidiobolomycosis can be detected on small endoscopic biopsy. The unequivocal diagnosis requires microbiologic cultivation of the fungus obtained from tissues. The prognosis for this disease is usually favorable as seen in 3 of our cases; however, cases with fatal outcome are on record.