Case Report: Recurrence of Testicular Myofibroblastic Tumor After Surgery

Inflammatory myofibroblastic tumour (IMT), also known as plasma cell granuloma (PCG) or inflammatory pseudotumour (IPT), is a distinctive, rarely metastasizing neoplasm composed of myofibroblastic and fibroblastic spindle cells accompanied by inflammatory infiltration of plasma cells, lymphocytes and/or eosinophils. IMT predominantly affects children and young adults, and the age at presentation ranges from 3 to 89 years. We present a very rare case of recurrent testicular IMT without ALK rearrangement. This case highlights the clinical characteristics and diagnostic factors associated with primary and recurrent foci of this rare tumour, along with key therapeutic approaches.

A left atrial hamartoma of mature cardiac myocytes

We present a case of a hamartoma of mature cardiac myocytes. This is an extremely rare tumour and the first reported paediatric case localised in the left atrium.

Surgical management of giant cell tumor in adolescent by excision or curettage followed by fibular strut graft

<p class="abstract">Giant cell tumour (GCT) in adolescent is a rare tumour. It commonly occurs in skeletally mature patients aged between 20-40 years. In adults it is seen in epiphyseal region. In patients with intact physis, it arises from the metaphysis. Giant cells are more common in females. It is more common in the ends of long bones of distal end of femur, proximal tibia, and distal radius. 14 cases of surgical management of GCT by excision or curettage in adolescent followed by fibular strut graft. 1 year follow up of all cases of GCT in adolescent treated with excision or curettage followed by fibular strut graft was done. Out of 14 patients, 12 patients did not develop any recurrence of GCT. 2 patient developed recurrence after 6 months. All the patients were able to attain good range of movements 2 months after surgery. GCT in adolescent surgically treated with excision or curettage followed by fibular graft had excellent results in terms of recovery of daily activities, wound healing. Chances of recurrence more in patients treated with curettage and bone grafting.</p><p class="abstract"> </p>

Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome

Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23 years with GGS with bilateral giant tumours adjacent to both adrenals that raised the suspicion of malignancy on imaging. Histological analysis of both surgically resected tumours revealed perivascular epitheloid cell tumours (PEComas) that were independent of the adrenals. Exome sequencing of the patient’s blood sample revealed a novel germline heterozygous frameshift mutation in the PTCH1 gene. As a second hit, a somatic five nucleotide long deletion in the PTCH1 gene was demonstrated in the tumour DNA of both PEComas. To the best of our knowledge, this is the first report on PEComa in GGS, and this finding also raises the potential relevance of PTCH1 mutations and altered sonic hedgehog signalling in PEComa pathogenesis. The presence of the same somatic mutation in the bilateral tumours might indicate the possibility of a postzygotic somatic mutation that along with the germline mutation of the same gene could represent an intriguing genetic phenomenon (type 2 segmental mosaicism).

Object Detection Improves Tumour Segmentation in MR Images of Rare Brain Tumours

Tumour lesion segmentation is a key step to study and characterise cancer from MR neuroradiological images. Presently, numerous deep learning segmentation architectures have been shown to perform well on the specific tumour type they are trained on (e.g., glioblastoma in brain hemispheres). However, a high performing network heavily trained on a given tumour type may perform poorly on a rare tumour type for which no labelled cases allows training or transfer learning. Yet, because some visual similarities exist nevertheless between common and rare tumours, in the lesion and around it, one may split the problem into two steps: object detection and segmentation. For each step, trained networks on common lesions could be used on rare ones following a domain adaptation scheme without extra fine-tuning. This work proposes a resilient tumour lesion delineation strategy, based on the combination of established elementary networks that achieve detection and segmentation. Our strategy allowed us to achieve robust segmentation inference on a rare tumour located in an unseen tumour context region during training. As an example of a rare tumour, Diffuse Intrinsic Pontine Glioma (DIPG), we achieve an average dice score of 0.62 without further training or network architecture adaptation.

Epithelioid haemangioendothelioma – A rare cause of pleural effusion

We present the case of a 44-year-old patient, with a history of lymphatic tuberculosis, diagnosed with a pleural effusion associated with pulmonary consolidations. Pleural effusions are frequent in the general population, presenting an incidence of 3–4 cases/1000 people. The etiological diagnosis can be difficult, as they can be secondary to a variety of diseases. Numerous extrapulmonary disorders can explain fluid accumulations in the pleural space with elevated protein level (exudates). However, more frequently they are the result of pulmonary diseases – inflammatory, infectious or neoplastic. The case entailed a differential diagnosis between pulmonary and pleural tuberculosis and neoplastic diseases. Despite receiving antituberculous treatment, the patient’s initial symptoms worsen, the patient starts presenting new signs and symptoms, and the fluid’s characteristics change – expression of an unfavourable evolution. Establishing the diagnosis proved to be difficult as invasive procedures were necessary. We diagnosed an extremely rare tumour, of vascular origin as the cause of the pleural effusion. Epithelioid haemangioendothelioma (EHE) presents an incidence of 1 in 1 million people. In conclusion, when treating a patient for pleural effusion, the lack of improvement entails reconsidering the initial diagnosis and performing more extensive tests.

Triple-Negative Breast Cancer Histological Subtypes with a Favourable Prognosis

Triple-negative breast cancers (TNBC), as a group of tumours, have a worse prognosis than stage-matched non-TNBC and lack the benefits of routinely available targeted therapy. However, TNBC is a heterogeneous group of neoplasms, which includes some special type carcinomas with a relatively indolent course. This review on behalf of the European Working Group for Breast Screening Pathology reviews the literature on the special histological types of BC that are reported to have a triple negative phenotype and indolent behaviour. These include adenoid cystic carcinoma of classical type, low-grade adenosquamous carcinoma, fibromatosis-like metaplastic carcinoma, low-grade mucoepidermoid carcinoma, secretory carcinoma, acinic cell carcinoma, and tall cell carcinoma with reversed polarity. The pathological and known molecular features as well as clinical data including treatment and prognosis of these special TNBC subtypes are summarised and it is concluded that many patients with these rare TNBC pure subtypes are unlikely to benefit from systemic chemotherapy. A consensus statement of the working group relating to the multidisciplinary approach and treatment of these rare tumour types concludes the review.

Solid Pseudopapillary Neoplasm (SPN) of the Pancreas: A 7-year Study in A Tertiary Level Teaching Hospital in Bangladesh

Solid pseudopapillary neoplasm (SPN) of the pancreas, also referred to as Frantz's tumour, is a rare tumour and represents 1-3% of all pancreatic tumours, which typically affects young women without significant clinical symptoms. This cross-sectional study was done in the Department of Pathology, Bangabandhu Sheikh Mujib Medical Un iversity (BSMMU) between January 2009 and December 2015. A total of nineteen cases of solid pseudopapillary neoplasm (SPN) of pancreas were detected in patients and included in this study. In all the patients the diagnosis was confirmed by histopathology after the surgery. Tumours were nodular, cystic or solid-cystic, often encapsulated. Some of them were received as irregular fragmented pieces, as intact removal was not possible. Cut surfaces were partly grey-white and partly tan-brown with cystic degeneration. Areas of necrosis and hemorrhage were present in all the specimens.The age range was of 14-45 years (mean age 26.9±3.7 years) (Table-I). Among the tumours, 18 were found in female patients, while only 1 was from male patient. In all the cases, preoperative imaging contributed to diagnosis of an abdominal mass in the patients. 11 of these were reported as pancreatic mass, while 3 as pancreatic cystic mass, 2 as retroperitoneal mass, 2 as mesenteric mass and only 1 as adrenal mass. Tumour-size ranged from 6 to 19 cm (mean size 9.3±1.5 cm). 7 tumours were solid and cystic in nature, while 8 were solid and 4 were only cystic. Complete capsule was found in 17 specimens. Calcifications were found in only 5 specimens. Surgical resection was found generally curative. In our study, absence of metastasis suggests that these tumours hardly show aggressive clinical behaviour. However, follow-up is important to observe potential local recurrence and metastasis. CBMJ 2020 July: Vol. 09 No. 02 P: 34-38

Diagnosing metastatic pheochromocytoma: Trick lies in attention to details!

Functional metastatic pheochromocytoma (PCC) is a very rare tumour and cytoreductive adrenalectomy with oligo metastatectomy is recommended in cases of low tumour burden. We report a rare case of metastatic PCC with an incidentally detected suspicious nodule seen on the anterior surface of the right lobe of the liver. The adrenal and the lesion were excised and sent for histopathology which was reported as a metastasis from PCC. This lesion was not visualised preoperatively on DOTA-PET-CT, highlighting the importance of keeping a low threshold for suspicion of metastasis in abnormal lesions and taking a biopsy during surgery. Inspection of the liver and rest of the abdomen for any abnormality should be done even when operating for any apparently benign lesions.