PCR Analysis of IgH and TCR-γ Gene Rearrangements as a Confirmatory Diagnostic Tool for Lymphoproliferative Disorders.

This study investigates PCR analysis of immunoglobulin heavy chain (IgH) and T cell receptor (TCR) gene rearrangements on paraffin-embedded tissue sections and bone marrow aspirates of patients suspected to have lymphoproliferative disorders but with inconclusive diagnosis in histopathological examination. 130 samples of patients with inconclusive immunohistochemistry results were evaluated for clonal rearrangement of IgH and TCR genes. Based on histopathology examination, the patients were divided into three groups: the first group without any definite diagnosis of lymphoproliferative disorders (60 cases, 46.2 %), the second group suspected to have a lymphoproliferative disorder but in favor of benign disorders (19 cases, 14.6 %) and the third group suspect to lymphoproliferative disorders but relatively in favor of malignant disorders (51 cases, 39.2 %). After DNA extraction and quality control, semi-nested PCR was performed using consensus primers for amplification of TCR-γ and CDR-3 regions of IgH genes. PCR products were analyzed after heteroduplex analysis using polyacrylamide gel electrophoresis, and were subject to silver staining. Totally, in over half of the cases (55.4 %), a monoclonal pattern was found in IgH or TCR-γ genes rearrangements. Monoclonal IgH gene rearrangement was detected in 48.1 % of patients, whereas monoclonal TCR-γ gene rearrangement was found in 33.6 % of them, which was not statistically significant (P = 0.008). Only in 32 patients (24.6 %) were the results of TCR-γ and IgH gene rearrangements consistent with respect to the presence (2.3 %) or absence (22.3 %) of monoclonality. Finally, PCR analysis of TCR-γ and IgH gene rearrangements led to definite diagnosis in 105 patients (80.8 %), and only 25 cases (19.2 %) remained inconclusive. Our results emphasize the usefulness of gene rearrangement study in cases without a definite diagnosis in immunohistochemistry studies. Multiple PCR analysis results when combined with patient's clinical course and immunohistochemistry can lead to early diagnosis and subsequent therapy.

Intractable Facial Pain and Numb Chin due to Metastatic Esophageal Adenocarcinoma.

The etiologies of facial pain are innumerable, thus facial pain misdiagnosis and resultant mismanagement is common. Numb chin syndrome presents with hypoesthesia and/or anesthesia in the dermatomal distribution of the inferior alveolar or the mental nerve. In this case report, we will discuss a case of intractable facial pain in a 57-year-old male with a history of esophageal adenocarcinoma who was initially misdiagnosed and treated as trigeminal neuralgia. During clinical examination, the loss of sensation in the inferior alveolar nerve distribution was identified and led to the diagnosis of mandibular metastasis. The details of the clinical presentation will be discussed in the context of accurate identification and diagnosis. Focal radiation to the metastatic location along with sphenopalatine ganglion radiofrequency ablation and medication management provided significant pain relief. This case report provides additional information to the current medical knowledge and it enhances the clinical vigilance of the clinicians when they encounter similar cases. We concluded that patients with a history of neoplasms who present with atypical symptoms of facial pain should undergo further investigation with advanced imaging. Targeted treatment based on an accurate diagnosis is the foundation of pain management.

Neuroendocrine tumor of the gallbladder.

Neuroendocrine tumors (NET) arise from neuroendocrine cells and are an exceedingly rare malignancy in the gallbladder. In this case report, a 52-year-old woman with complaints of episodic abdominal pain for two months prior was admitted to our hospital. She had no other signs and symptoms and her laboratory tests were within normal limits. Ultrasonography showed a broad-necked mass (26 × 12 mm) in the gallbladder for which she underwent laparoscopic cholecystectomy. The final pathological diagnosis was a high grade neuroendocrine carcinoma of the gallbladder with involvement of the lymph nodes and omentum. The patient received the chemotherapy regimens of gemcitabine plus cisplatin, followed by docetaxel plus sunitinib for her metastatic liver lesions. She also underwent radiofrequency ablation. Serial CT-scans revealed metastatic liver lesions that had decreased in size, with no significant improvement. The patient refused additional treatment and at 46 months, she was doing well with no complaints of any pain, disease recurrence, or metastatic progression.