Phosphaturic mesenchymal tumor (PMT): exceptionally rare disease, yet crucial not to miss

Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like substance known as fibroblast growth factor 23 (FGF23), a physiologic regulator of phosphate levels. FGF23 decreases proximal tubule reabsorption of phosphates and inhibits 1-α-hydroxylase, which reduces levels of 1-α, 25-dihydroxyvitamine D3. Thus, overexpression of FGF23 by the tumor cells leads to increased excretion of phosphate in the urine, mobilization of calcium and phosphate from bones, and the reduction of osteoblastic activity, ultimately resulting in widespread osteomalacia. Patients typically present with gradual muscular weakness and diffuse bone pain from pathologic fractures. The diagnosis is often delayed due to the non-specific nature of the symptoms and lack of clinical suspicion. While serum phosphorus and FGF23 testing can assist in making a clinical diagnosis of PMT, the responsible tumor is often difficult to locate. The pathologic diagnosis is often missed due to the rarity of PMTs and histologic overlap with other mesenchymal neoplasms. While patients can experience severe disabilities without treatment, excision is typically curative and results in a dramatic reversal of symptoms. Histologically, PMT has a variable appearance and can resemble other low grade mesenchymal tumors. Even though very few cases of PMT have been reported in the world literature, it is very important to consider this diagnosis in all patients with hypophosphatemic osteomalacia. Here we present a patient who suffered for almost 5 years without a diagnosis. Ultimately, the PMT was located on a 68Ga-DOTA TATE PET/CT scan and subsequently confirmed by histologic and immunohistologic study. Interestingly, strong positivity for FGFR1 by IHC might be related to the recently described FN1-FGFR1 fusion. Upon surgical removal, the patient's phosphate and FGF23 levels returned to normal and the patient's symptoms resolved.

Primary extragastrointestinal stromal tumors: A clinicopathological and immunohistochemical study-A tertiary care center experience.

Background: Extra gastrointestinal stromal tumors (EGIST) are uncommon compared to their gastrointestinal counterparts. EGISTs involve omentum, mesentery, retroperitoneum, pancreas, and pelvis. Materials and Methods: Ten EGISTs were analyzed in this study from January 1995 to November 2011. They were analyzed with respect to clinical features, imageological, histopathological, and immunohistochemical findings. The immunohistochemical stains used were Smooth muscle actin (SMA), Desmin, S-100 protein, CD34 and CD-117. Results: There was slight female preponderance with wide age range. Four of the tumors were in retroperitoneum, three in mesentery, and two in omentum and one in pelvis. Histopathologically majority were spindle cell tumors. Immunohistochemically CD117 was consistently positive followed by CD34. Smooth muscle actin was positive in eight cases, S-100 protein and desmin were positive in two cases each. Conclusion: EGISTs are rare and should be considered in the differential diagnosis of the mesenchymal tumors and immunohistochemistry helps to confirm the diagnosis. Further study with better follow-up is desired to characterize these uncommon tumors.

Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis / Osteomalacia oncogênica: a perda de fosfatemia pode ser a chave para evitar o diagnóstico incorreto

Diagnosing oncogenic osteomalacia is still a challenge. The disorder is characterized by osteomalacia caused by renal phosphate wasting and low serum concentration of 1,25-dihydroxyvitamin D3 occurring in the presence of a tumor that produces high levels of fibroblast growth factor 23. However, it is possible that the disease is much more misdiagnosed than rare. We present the case of a 42-year-old man with a long-term history of undiagnosed progressive muscle weakness. His laboratory results mainly showed low serum phosphate. Surgical removal of a nasal hemangiopericytoma that had been diagnosed five years earlier, brought him to a symptom-free condition. Even though knowing the underlying etiology would explain his osteomalacia, the patient sought medical help from countless physicians for five consecutive years, and only after adequate treatment a rewarding outcome was achieved. Arq Bras Endocrinol Metab. 2012;56(8):570-3.

A osteomalacia oncogênica é um diagnóstico clínico desafiador, caracterizado pela perda renal de fosfato e baixos níveis de 1,25-di-hidroxivitamina D3, ocorrendo na presença de um tumor produtor de altos níveis de fator de crescimento de fibroblasto 23. No entanto, é possível que se trate muito mais de uma falha de diagnóstico clínico do que propriamente uma doença rara. Os autores relatam o caso de um homem de 42 anos com histórico de fraqueza muscular progressiva por cinco anos e restrição à cadeira de rodas, sem diagnóstico. Seus exames laboratoriais evidenciavam baixos níveis de fósforo. A remoção cirúrgica de um hemangiopericitoma detectado previamente em cavidade nasal levou à resolução completa dos sintomas. Os autores enfatizam que, mesmo com a etiologia já evidenciada, o paciente consultou diversos clínicos no decorrer dos cinco anos até que fossem instituídos o diagnóstico e o tratamento adequados. Arq Bras Endocrinol Metab. 2012;56(8):570-3.

Nevus lipomatoso superficial de Hoffman y Zurhelle / Naevus lipomatosus superficialis of Hoffman and Zurhelle

Se describen tres casos de nevus lipomatoso superficial de Hoffman y Zurhelle vistos en los últimos 25 años en el Servicio de Dermatología del Hospital José Joaquín Aguirre. La edad de aparición de las lesiones estuvo entre 0 y 14 años de edad; fueron lesiones salientes del color de la piel, agrupadas o de disposición lineal, sésiles o pediculadas y asintomáticas, y en el examen histológico de los tres se ve tejido adiposo maduro normotípico en la dermis superficial rodeando las estructuras vasculares. El principal diagnóstico diferencial es la hipoplasia dérmica focal o síndrome de Goltz, aunque en nevi melanocíticos intradérmicos y en fribromas blandos de gran tamaño es frecuente encontrar también tejido adiposo en la dermis

Frecuencia de las enfermedades reumáticas en el Hospital Regional Docente de Trujillo (1982-1987) / Frecuency of rheumatic diseases in the Regional Hospital Docente de Trujillo (1982-1987)

Se presenta un estudio longitudinal de 2178 pacientes, quienes desarrollaron 2344 enfermedades reumáticas, realizado en el Hospital Regional Docente de Trujillo, en 5 años (1982-1987), con la finalidad de determinar la frecuencia y las características en relación al lugar, tiempo y persona. Los tres grupos de enfermedades reumáticas predominantes fueron los reumatismos no articulares, las artropatías degenerativas y las enfermedades difusas del tejido conjuntivo. El sexo femenino predominó en la proporción de 2 a 1. Las enfermedades reumáticas se presentaron en todos los grupos etáreos, pero la mitad ocurrió entre los 40 a 49 años. Las cuatro quintas partes procedieron de la provincia de Trujillo y fueron atendidos en los Servicios de Medicina, Reumatología y Traumatología. El 50 por ciento de las enfermedades fueron diagnosticadas utilizando solamente criterios clínicos. La proporción de estos procesos reumáticos representó el 1,7 por ciento del total de casos atendidos durante los 5 años del estudio

Tumores benignos conjuntivos rectocolónicos / Rectocolonics conjunctive benign tumors

Los autores analizan los tumores benignos de origen conjuntivo de localización recto-colónica señalando su escasa frecuencia y los caracteres patológicos más significativos, de acuerdo al tejido mesodérmico que lo origina. Pocos son los que tienen caracteres clínicos propios o definitorios, concluyendo que la sintoma-signología se halla integrada a la de los tumores recto-colónicos más frecuentes. Señalan a la radiología de doble contraste, la endoscopia, histopatología de biopsia y la arteriografía selectiva como los recursos de mayor valor diagnóstico. Enfatizan en la necesidad de tener en cuenta esta variedad de tumores para su posibilidad diagnóstica. La falta del mismo puede dar lugar a tratamientos inadecuados, por defecto o por exceso. Integran su exposición con ejemplos de casos tratados