Paediatric desmoid tumour of the head and neck: a complete response to chemotherapy and the paradigm shift towards non-surgical management.

Desmoid tumours are rare locally aggressive mesenchymal tumours with a high local recurrence rate, particularly in the head and neck locations. We present the case of a 5-year-old child with a locally invasive inoperable desmoid tumour of the masticator space who underwent a low-dose chemotherapy regimen for 17 months, obtaining a long-term complete response. Definitive evidenced-based treatment guidelines are lacking. Therefore, paediatric patients should be managed by specialised multidisciplinary teams to try to achieve the best tumour control while minimising treatment associated morbidity and mortality. Available treatment options include surgery, radiotherapy and different systemic medical therapies. Whereas traditionally, surgery was the mainstay of treatment, more conservative options have increasingly shown adequate tumour control with little associated morbidity. In this decision making it is mandatory to take into account the patient's age, tumour location and extension, and potential short-term and long-term treatment-related sequelae to minimise functional and cosmetic compromise.

Fine-needle aspiration of lipoblastoma: Cytological, molecular, and clinical features.

BACKGROUND: Lipoblastomas are rare, benign adipocytic tumors that present mostly during infancy. In about 70% of cases, these tumors carry abnormalities in chromosome 8, mainly leading to rearrangements of the PLAG1 gene. METHODS: We report a series of histologically proven lipoblastomas with previous fine-needle aspiration (FNA) cytology from 9 patients (n = 10 samples) and describe their clinical, cytological, and molecular features. RESULTS: Our cohort included 5 boys and 4 girls (median age, 2.5 years [range, 10 months to 13 years]) who presented with soft tissue masses in the thorax (n = 3), abdomen (n = 2), axilla (n = 2), and thigh (n = 2). In 1 patient, the FNA diagnosis was inconclusive due to hypocellularity, and in another patient a diagnosis of benign lipomatous tumor was made. In the remaining 8 samples (one of which confirmed relapse), a correct preoperative FNA diagnosis was rendered. Smears were hypo- to moderately cellular and contained fragments of mature adipose tissue with thin branching vessels admixed with some lipoblasts in a myxoid matrix. Spindle cells and naked oval nuclei with no atypia were observed in the background. Of the 4 patients tested for PLAG1 rearrangement using FISH probes, 3 harbored this alteration (1 was made on a FNA smear and 1 was made in a tumor imprint). All the patients are alive and well, except for 1 patient with a retroperitoneal tumor who, after an initial incomplete excision, died of local disease progression. CONCLUSION: FNA, especially if used together with molecular biology techniques (eg, PLAG1 FISH analysis), is a reliable and accurate diagnostic tool. Cancer Cytopathol 2017;125:934-9. © 2017 American Cancer Society.

A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro).

Multiple gastrointestinal stromal tumors (GISTs) caused by germline KIT gene mutations are an extremely rare autosomal dominant disorder. We report a case of a 21-year-old woman who presented to the emergency department with a 2-week history of asthenia, palpitations and upper gastrointestinal bleeding. After further clinical evaluation one gastric and two small bowel GISTs were diagnosed, which were surgically resected after neoadjuvant therapy with Imatinib. Diffuse hyperplasia of the interstitial cells of Cajal was also seen in the background gastric and small intestinal walls. Somatic mutational analysis of the KIT gene revealed a substitution at codon 576 in exon 11 (p.Leu576Pro) in all tumors and normal ileal mucosa. The germline nature of this mutation was confirmed by mutation analysis in peripheral blood leukocytes. However, she had no familial history of GISTs and her parents did not carry the respective germline mutation.

Fine-needle aspiration cytology of angiomatoid malignant fibrous histiocytoma.

Angiomatoid malignant fibrous histiocytoma (AMFH) is a rare, low-grade malignant mesenchymal neoplasm that affects mostly the extremities of children and young adults. Excisional surgery is the adequate treatment. The cytologic, immunocytologic, and histologic features noted in two patients having AMFH are presented. Cytologic smears showed histiocyte-like cells dispersed and in clusters, in close relation with eosinophilic mesenchymal fragments in a bloody background with lymphocytes. The tumor cells showed mild to moderate anisocariosis, often with nucleolus and vast, fragile cytoplasm. A fibroblastic-like spindle to ovoid cell population was also present in one patient. Immunohistochemical results are most consistent with myofibroblastic cell differentiation. When accompanied by adequate clinical information and ancillary techniques, a specific preoperative cytologic diagnosis is possible.

Is preoperative cytologic diagnosis of epithelioid sarcoma possible?

Epithelioid sarcoma (ES) is a rare malignant neoplasm of the soft tissues with a predilection for distal extremities of young adults. A "proximal" variant was recently described. The preoperative fine-needle aspiration cytology (FNAC) differential diagnosis with necrotizing granuloma, carcinoma, melanoma, and other neoplasms with epithelioid morphology can be difficult and few cases have been described in the literature. The authors present the preoperative FNAC findings of 10 aspirates of ES, corresponding to seven patients (four men and three women, ages 13-72 years). The cytologic features were compared with histologic features as well as with the FNA patterns of other neoplasms with epithelioid morphology that may be included in the differential diagnosis. Cytologic smears showed tumor cells with an epithelioid to spindle cell morphology, dispersed and in loose clusters in close relation with a fibrillar hyaline material. The cells showed moderate anisocariosis, a vast well-defined, often dense cytoplasm with immunoexpression of vimentin, cytokeratin, and CD 34. When the FNA cytologic features described above are accompanied by the adequate clinical setting and are supported by immunocytochemistry, an accurate preoperative cytologic diagnosis of ES is possible.