Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone

To validate the reliability and implementation of an objective diagnostic method for giant cell tumour of bone (GCTB). H3-3A gene mutation testing was performed using two different methods, Sanger sequencing and immunohistochemical (IHC) assays. A total of 214 patients, including 120 with GCTB and 94 with other giant cell-rich bone lesions, participated in the study. Sanger sequencing and IHC with anti-histone H3.3 G34W and G34V antibodies were performed on formalin-fixed, paraffin-embedded tissues, which were previously decalcified in EDTA if needed. The sensitivity and specificity of the molecular method was 100% (95% CI: 96.97–100%) and 100% (95% CI: 96.15–100%), respectively. The sensitivity and specificity of IHC was 94.32% (95% CI: 87.24–98.13%) and 100% (95% CI: 93.94–100.0%), respectively. P.G35 mutations were discovered in 2/9 (22.2%) secondary malignant GCTBs and 9/13 (69.2%) GCTB after denosumab treatment. We confirmed in a large series of patients that evaluation of H3-3A mutational status using direct sequencing is a reliable tool for diagnosing GCTB, and it should be incorporated into the diagnostic algorithm. Additionally, we discovered IHC can be used as a screening tool. Proper tissue processing and decalcification are necessary. The presence of the H3-3A mutation did not exclude malignant GCTB. Denosumab did not eradicate the neoplastic cell population of GCTB.

En bloc resection and vascularized ulnar pedicle graft reconstruction with plate fixation for giant cell tumour of the distal radius

We retrospectively reviewed the medical records of ten patients (five men and five women) who were treated in our unit for Campanacci Grade III giant cell tumour of the distal radius between July 2017 and December 2019. Following en bloc resection of a giant cell tumour of the distal radius, the wrist was reconstructed by transposing a vascularized pedicle graft from the ipsilateral ulnar shaft. The graft was fixed to the radial shaft and proximal carpal row with plates. At a mean follow-up of 23.5 months (range 18 to 31), bony union was achieved in all cases and there were no tumour recurrences. All patients had a good range of pronation and supination, but flexion and extension of the wrist was limited. DASH scores ranged from 5 to 11. This reconstruction method is a safe and effective procedure that provides good aesthetic outcomes, removes the need for microvascular techniques and reduces donor site morbidity. Level of evidence: IV

Juxtaglomerular cell tumour of the kidney: a rare cause of resistant hypertension

Summary Juxtaglomerular cell tumour (JGCT) is an unusually encountered clinical entity. A 33-year-old man with severe long-standing hypertension and hypokalaemia is described. The patient also suffered from polyuria, polydipsia, nocturia and severe headaches. On admission, laboratory investigation revealed hypokalaemia, kaliuresis, high aldosterone and renin levels, and the abdomen CT identified a mass of 4 cm at the right kidney. Kidney function was normal. Following nephrectomy, the histological investigation revealed the presence of a JGCT. Immunostaining was positive for CD34 as well as for smooth muscle actin and vimentin. Following surgery, a marked control of his hypertension with calcium channel blockers and normalization of the serum potassium, renin or aldosterone levels were reached. According to our findings, JGCT could be included in the differential diagnosis of secondary hypertension as it consists of a curable cause. The association of JGCT with hypertension and hypokalaemia focusing on the clinical presentation, diagnostic evaluation and management is herein discussed and a brief review of the existing literature is provided. Learning points Juxtaglomerular cell tumours (JGCT), despite their rarity, should be included in the differential diagnosis of secondary hypertension as they consist of a curable cause of hypertension. JGCT could be presented with resistant hypertension along with hypokalaemia, kaliuresis and metabolic alkalosis. Early recognition and management can help to prevent cardiovascular complications. Imaging (enhanced CT scans) may be considered as the primary diagnostic tool for the detection of renal or JGCT. For the confirmation of the diagnosis, a histopathologic examination is needed.

Congenital Granular Cell Tumour: Report of a case with review of literature and differential diagnosis.

Congenital Granular Cell Tumour (CGCT) is a rare benign lesion and presents in newborn as fibrous mass arising from the alveolus.The prenatal screening of lesion can help in parent counselling, determining the complications, as larger size lesion may interfere with normal delivery and require caesarean section.

Choriocarcinoma syndrome: a rare presentation of testicular germ cell tumour

Published in August 2021.