A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma

SUMMARY Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodular adrenocortical disease and pigmented schwanoma of the skin. PRKAR1A gene was PCR amplified using genomic DNA and analyzed for sequence variants which revealed the novel mutation resulting in substitution of amino acid cysteine instead of the naturally occurring valine in the peptide chain and a premature stop codon at position 18 (V215CfsX18). This change leads to development of tumors in different organs due to lack of tumor suppressive activity secondary to failure of synthesis of the related protein.

ER-negative /PR-positive breast carcinomas or technical artifacts in immunohistochemistry?

Evaluation of estrogen [ER] and progesterone [PR] receptors is important in the management and prognosis of breast cancer patients. Immunohistochemistry [IHC] is currently the worldwide accepted methodology for detection of ER/PR receptors in breast carcinomas. However, technical artifacts may alter the results. Since most authorities believe that there are no true ER-negative/PR-positive breast tumors, therefore we hypothesized that technical artifact in IHC might cause ER-negative/PR positive cases. The clinical records of 2432 patients treated by surgery at six community hospitals for different histologic subtypes of breast carcinoma were reviewed. Among them, 43 [1.8%] patients reported as ER-negative/PR-positive were re-evaluated in a reference laboratory. Expressions of ER and PR were evaluated by IHC on the same paraffin block used for the initial testing. The repeat study showed that of the 43 patients with the initial results of ER-negative/PR-positive, 24 [55.8%] were ER-positive/PR-positive, 15 [34.9%] were ER-negative/PR-negative, and 4 [9.3%] were ER-positive/PR-negative. In none of the 43 cases were the initial results [ER-negative/PR-positive] confirmed. Technical artifacts in IHC may alter ER/PR results in breast carcinomas. The technical factors affecting steroid receptor IHC ought to be properly controlled to provide reliable results

Abdominal inflammatory myofibroblastic tumor: report on four cases and review of literature

The Abdominal Inflammatory Myofibroblastic Tumor [AIMT] is a rare tumor with unknown etiology which usually occurs in children and adolescents. It is composed of myofibroblastic spindle cells intermixed with inflammatory cells. We present four cases of AIMT. We herein present four cases of AIMT in different ages [range: 3.5 to 13 years] and in different organs [stomach, periduodenal, mesenteric, and colon]. There were two females and two males. The main symptoms were abdominal pain/mass/obstruction, vomiting, and weight loss. In all four patients, diagnosis was made by laparatomy and pathologic examination of excised mass lesion. Three patients underwent complete excision and no residual disease was present, one patient received chemotherapy due to tumor recurrences. The patients were followed up in average for four years. As the imaging and laboratory tests are non-specific, the diagnosis of AIMT is rarely made before surgery. AIMT should, therefore, be considered when a mass arises in an unusual location in the pediatric age group. Complete surgical resection should be performed whenever possible and the child should be kept on long-term follow-up