Dedifferentiated Liposarcoma of the Descending Colon: A Case Report and Review of the Literature.

Dedifferentiated liposarcomas are rare; localization of these tumors in the descending colon is extremely uncommon. We describe the case of a 75-year-old man with a dedifferentiated liposarcoma originating from the descending colon that manifested as partial bowel obstruction. The very uncommon presentation of this rare disease contributed to a challenging diagnostic process. The patient was successfully treated by surgical resection of the mass through left hemicolectomy. Although exceptionally unusual, soft tissue sarcomas should be considered in the differential diagnosis for bowel obstruction. Currently, radical resection of the mass is considered to be the first-line treatment.

Giant Pelvic Schwannoma: Case Report and Review of the Literature.

INTRODUCTION: Pelvic schwannomas are rare, mostly benign tumors. They are usually asymptomatic until their massive growth compresses adjacent organs. We describe the case of a 53-year-old man with a pelvic schwannoma who initially complained of constipation and urinary retention. AREAS COVERED: We analyzed the clinical presentation, histopathology, diagnostic imaging tools, and the treatment options for pelvic schwannomas, compared with the few other cases reported in the literature. EXPERT COMMENTARY: Pelvic schwannomas are masses that can grow to considerable size, producing symptoms over time. Due to their size and localization, surgery, although difficult, is the only available treatment.

Giant Retroperitoneal Myelolipoma: An Unusual Diagnostic GI Challenge-Case Report and Review of the Literature.

INTRODUCTION: Myelolipomas are rare, benign neoplasms usually arising from the retroperitoneum. They represent an unusual diagnostic challenge due to their vague GI symptoms. We present a case of an 81-year-old patient complaining of severe dyspepsia. An abdominal CT scan and a fine needle biopsy lead to a diagnosis of giant retroperitoneal myelolipoma. A complete surgical resection was performed; no evidence of recurrent tumor was noted after 10 months. AREAS COVERED: Giant myelolipomas are very rare lesions. Clinical diagnosis of myelolipomas can be problematic due to their indefinite symptoms. CT scan and fine needle biopsy can be useful to reach a diagnosis, although they cannot be used to exclude malignancy in giant lesions. Surgery is the principal treatment if the tumor is symptomatic or > 7 cm. Follow-up is not mandatory due to the lack of any example of recurrence described in literature. EXPERT COMMENTARY: Despite the size of the neoplasms, since most of the complaints are vague, patients with this diagnosis should be considered among patients with unexplained gastrointestinal symptoms. Since malignancy cannot be excluded based on preoperative and intraoperative biopsy, an aggressive surgical approach is essential.

Two years' experience of acute rejection monitoring of intestinal transplant recipients by real-time PCR assessment of granzyme B and perforin up-regulation: considerations on diagnostic accuracy.

Granzyme B (GrB) and perforin are promising immunological markers to predict acute rejection of transplanted organs. Based on 2 years of experience with molecular monitoring on peripheral blood samples, we investigated the diagnostic accuracy of GrB/perforin gene up-regulation using real-time polymerase chain reaction (PCR) for prediction of acute cellular rejection (ACR) in intestinal transplantation recipients. Histology used as the reference standard. According to our definition of disease positivity (anything other than ACR score 0), GrB/perforin up-regulation showed 84% specificity but only 49% sensitivity. However, among the 26 false-negatives, 12 (46%) had an ACR score 1, which is indeterminate for rejection and no associated clinical manifestations; a further 10 (39%) had a score of 2 following rejection therapy (a confounder for GrB/perforin analysis). Thus only 4 (15%) false-negatives were actually associated with the onset of robust acute rejection. These data suggest that real-time PCR analysis for GrB/perforin up-regulation might play a role along with clinical criteria for detection of presymptomatic acute rejection episodes in intestinal recipients who require immediate endoscopy and pathological examination, especially during long-term follow-up.

Potential of real-time PCR assessment of granzyme B and perforin up-regulation for rejection monitoring in intestinal transplant recipients.

Granzyme B (GrB) and perforin are promising markers to predict acute rejection episodes of transplanted organs. Having recently reported that immunohistochemical expression of GrB/perforin correlates with histologically assessed acute cellular rejection (ACR) episodes in intestinal transplantation recipients, herein we have additionally explored the potential of real-time polymerase chain reaction (PCR) assessment of GrB/perforin gene up-regulation in peripheral blood mononuclear cells. Both immunohistochemical evaluation of GrB/perforin expression and real-time PCR assessment of up-regulation, which was defined as a 2-fold increase with respect to "basal" levels during maintenance immunosuppressive protocols, were performed among a population of 23 intestinal transplant recipients under routine surveillance, in addition to histological analysis of ACR. The ACR scores showed direct relationships both with GrB/perforin immunohistochemistry (IHC) scores (P < .001) and with gene up-regulation by real-time PCR (P = .004). Furthermore, real-time PCR upregulation was associated with the IHC score (P < .001). A preliminary analysis of diagnostic accuracy-performed to gain information to plan future studies-indicated that when using histological assessment as the reference technique, our current definition of PCR up-regulation provided good specificity (84%) but insufficient sensitivity (44%) for a noninvasive prediction of ACR. The results of this pilot study suggested that real-time PCR analysis of GrB/perforin upregulation may help therapeutic decision making, and have the potential for detection of presymptomatic rejection. More extensive studies must investigate strategies to improve the sensitivity of the analyses of GrB/perforin up-regulation.

Transthyretin amyloidosis and superficial siderosis of the CNS.

OBJECTIVE: To describe a previously unreported clinical and radiologic presentation of hereditary transthyretin (TTR)-related amyloidosis. BACKGROUND: Unexplained cerebellar ataxia, pyramidal syndrome, and hearing loss are observed in some patients with TTR-related amyloidoses. METHODS: We performed clinical, radiologic, and pathologic examinations of three family members with TTR-related (Ala36Pro) amyloidosis. RESULTS: The patient was a 69-year-old woman with vitreal amyloid deposits, progressive sensorineural deafness, cerebellar ataxia, pyramidal syndrome, and recurrent transient neurologic symptoms. Cranial MRI showed symmetric thin rims of low signal intensity in T2- and T2*-weighted images in the cortex of the sylvian fissures, of the cerebellar hemispheres and vermis, and in the quadrigeminal plate consistent with superficial siderosis of the CNS. Her older daughter had vitreal amyloid deposits, acute Brown-Sequard syndrome at C4, acute sensorineural deafness, and recurrent transient neurologic symptoms. Cranial MRI at age 48 revealed a rim of low signal intensity in T2- and T2*-weighted images in the superior vermis folia and the right sylvian cortex. In addition, two small hemosiderin deposits were seen in the left parietal cortex. Lumbar puncture yielded colorless CSF with increased ferritin content and was followed by fourth ventricle hemorrhage. Cranial MRI 11 months later showed progression of brain hemosiderin deposits. The younger daughter had vitreal deposits, sensorimotor polyneuropathy, and acute sensorineural hearing but no evidence of siderosis on cranial MRI. She died at age 43 years of posterior fossa subarachnoid hemorrhage, and the neuropathologic examination showed amyloid deposition in the leptomeningeal spaces and vessels. CONCLUSION: Transthyretin-related amyloidosis may cause superficial siderosis of the CNS through subarachnoid bleeding related to meningovascular amyloid deposition.

[Quality control of intraoperative diagnosis]. / Il controllo di qualità delle diagnosi intraoperatorie.

A retrospective study of 2500 consecutive frozen sections obtained in the period April 14, 1993, through April 29, 1995 from the Institute of Anatomic Pathology of Ospedale "Bellaria" of Bologna is presented. The most frequent of mistakes followed sampling errors. Quality Control of frozen section diagnoses is a valid system for monitoring and improving the accuracy of diagnoses.