Giant mesenteric fibromatosis associated with non-Hodgkin lymphoma. A case report and literature review.

BACKGROUND: Mesenteric fibromatosis is a benign locally-aggressive mesenchymal neoplasm that lacks the potential for metastasis. It is related to Gardner's Syndrome, previous trauma, abdominal surgery, and prolonged intake of oestrogen. Differentially diagnosing this from similar tumours is crucial in order for establishing the appropriate treatment and only immunohistochemical features can be used for a definitive diagnosis. Although medical therapies play a role in the treatment of mesenteric fibromatosis, surgical resection is the gold-standard procedure. METHODS: Our case study is a 40-year-old male with a concomitant diagnosis of non-Hodgkin lymphoma and mesenteric fibromatosis, not associated with any of the risk factors mentioned above. We performed CT and PET scans and observed a vascularised and well-defined mesenteric centre-abdominal hypermetabolic solid mass in contact with the gastric body, duodenum, body and tail of the pancreas, transverse colon, and spleen. An ultrasound-guided tru-cut biopsy revealed features suggestive of mesenteric fibromatosis. RESULTS: An elective laparotomy was carried out and a giant mass, arising from mesentery, was excised, including a partial gastrectomy and segmental resection of the transverse colon. Distal pancreatectomy, small bowel resection and successive splenectomy were performed due to a large hypertensive component. The postoperative period was uneventful. The histopathology of the surgical pieces was compatible with intra-abdominal desmoid fibromatosis. CONCLUSION: As far as we know from the literature, this is the largest mesenteric fibromatosis tumour ever to be excised. We also noticed that this is the first reported case of the concomitant presence of mesenteric fibromatosis and non-Hodgkin lymphoma that is not related to any of the described risk factors. Further research is needed to establish what type of association this presentation may indicate.

Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD).

Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.

Gastrointestinal stromal tumors (GISTs): SEAP-SEOM consensus on pathologic and molecular diagnosis

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the digestive tract, with an incidence of 1.1 cases/100,000 inhabitants/year. A group of experts from the Spanish Society of Pathology and the Spanish Society of Oncology met to discuss a brief update on GISTs and agree on aspects relating to the pathological and molecular diagnosis of these tumors. GISTs are generally solitary, well-circumscribed lesions of variable size (< 10 mm-35 cm) that may present with intra- or extra-luminal parietal growth or a mixed-type (hourglass) growth pattern. Histologically, they are unencapsulated neoplasms displaying expansive growth and spindle-shaped (70%), epithelioid (20%), or mixed cellularity (10%). Mitotic activity is generally moderate or low and should be evaluated only in areas with high cellularity or higher mitotic frequency. The great majority of GISTs harbour mutually exclusive activating mutations in genes coding for the type III receptor tyrosine kinases KIT and PDGFRA; less commonly, GISTs have also been reported to display mutations elsewhere, including BRAF and NF1 and SDH-complex genes. The method most widely used to detect KIT and PDGFRA mutations is amplification of the exons involved by polymerase chain reaction followed by direct sequencing (Sanger method) of these amplification products. Molecular analyses should always specify the type of analysis performed, the region or mutations evaluated, and the sensitivity of the detection method employed (AU)

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Gastrointestinal stromal tumors (GISTs): SEAP-SEOM consensus on pathologic and molecular diagnosis.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the digestive tract, with an incidence of 1.1 cases/100,000 inhabitants/year. A group of experts from the Spanish Society of Pathology and the Spanish Society of Oncology met to discuss a brief update on GISTs and agree on aspects relating to the pathological and molecular diagnosis of these tumors. GISTs are generally solitary, well-circumscribed lesions of variable size (<10 mm-35 cm) that may present with intra- or extra-luminal parietal growth or a mixed-type (hourglass) growth pattern. Histologically, they are unencapsulated neoplasms displaying expansive growth and spindle-shaped (70%), epithelioid (20%), or mixed cellularity (10%). Mitotic activity is generally moderate or low and should be evaluated only in areas with high cellularity or higher mitotic frequency. The great majority of GISTs harbour mutually exclusive activating mutations in genes coding for the type III receptor tyrosine kinases KIT and PDGFRA; less commonly, GISTs have also been reported to display mutations elsewhere, including BRAF and NF1 and SDH-complex genes. The method most widely used to detect KIT and PDGFRA mutations is amplification of the exons involved by polymerase chain reaction followed by direct sequencing (Sanger method) of these amplification products. Molecular analyses should always specify the type of analysis performed, the region or mutations evaluated, and the sensitivity of the detection method employed.

Varón de 37 años con fiebre, disfagia y masa mediastínica / A 37-year old male with fever, dysphagia and mediastinal mass

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[Dermoid cyst of the floor of the mouth. A case report]. / Quiste dermoide de suelo de boca. Revisión a propósito de un caso.

This is the case of a young woman, 16-year-old, calling to our Department because of the appearance, in the floor of the mouth, of a mass progressively growing until about 5 cm diameter. Through fine needle biopsy was diagnosed of epidermoid cyst. Despite its size and infrahyoid site was removed successfully. Perusal review of last years bibliography and its variants.

Candidiasis diseminada con afectación miocárdica / Disseminated candidiasis with myocardic affectation

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[Pilomatrix carcinoma of the face. Two case reports]. / Carcinoma pilomatricial con localización facial. A propósito de dos casos.

Pilomatrixial carcinoma is the malignant variety of pilomatrixoma. It is a malignant lesion, locally aggressive that can reappear, specially if not completely removed. Scanty are the number of cases listed in the literature (2). Although metastases are uncommon one or twice references can be found in the writings (1). We report 2 cases of pilomatrixial carcinoma located in the middle canthal and malar zones, which were treated surgically: excision of the tumor and reconstruction by means of a local rotation flap.

[Leiomyosarcoma of the inferior vena cava. Apropos of a case]. / Leiomiosarcoma de cava inferior. A propósito de un caso.

Presentation of one case of inferior cava leiomyosarcoma in a 24-year old female patient, incidentally diagnosed after performance of ultrasound. The complementary examinations performed (CAT, NMR, arteriography) guided to a mass of suprarenal origin. During surgery, a tumour of the inferior cava vein was suspected and was later confirmed through the pathoanatomical study of the surgical piece. Review of the clinical and diagnostic aspects placing special emphasis on treatment.

[Prostatic rhabdomyosarcoma in adults]. / El rabdomiosarcoma de próstata en el adulto.

OBJECTIVE: To report on two adult patients with prostatic embryonal rhabdomyosarcoma. The literature is briefly reviewed and the clinical, diagnostic and therapeutic aspects of this unusual variety of prostate cancer are discussed. METHODS: Two patients, aged 27 and 34 years, with prostatic embryonal rhabdomyosarcoma are presented. Both cases showed tumor dissemination at the time of diagnosis. Both patients received chemotherapy. RESULTS: A 60% reduction in tumor volume was achieved in one patient, who subsequently underwent rescue surgery and, in spite of a recurrence, is still alive 3 years after the diagnosis. The other patient showed no response to chemotherapy. He refused rescue surgery and was lost to follow-up. CONCLUSION: Embryonal rhabdomyosarcoma of the prostate in the adult is an unusual and aggressive tumor, of rapid growth and progression. Early diagnosis and treatment without delay by radical surgery and chemotherapy are essential to improve the prognosis of this disease.