Case summary

Metastatic breast cancer (MBC) remains a largely incurable disease. However, some cases of MBC with long-term relapse-free survival are seen, implying that a small subset of MBC patients could be curable. We report the case of a HER2 positive and HR negative breast cancer patient who was diagnosed with multiple visceral and skeletal metastases and is alive without evidence of active disease at the end of 8 years. Sixty years old female with no comorbidities was evaluated for a lump in right breast in mid-July 2011. True cut biopsy from the lump confirmed the diagnosis of high-grade infiltrating ductal carcinoma. The tumor was negative for ER, PR expression, HER2 amplification was noted on the FISH test. Computed tomography (CT) showed a mass lesion in the right breast of 4.5 cm multiple lungs lesions (largest of size 5.6 cm), multiple hepatic lesions (largest of 11.5 cm), multiple enlarged mediastinal, axillary, retroperitoneal lymph nodes and D7 vertebral lytic lesion with partial collapse. The patient was treated with combination therapy including paclitaxel (80mg per meter square) and trastuzumab (4mg per kg) at the interval of every week. After completion of 6 cycles, CT scan in Dec 2011 showed significant regression in size of metastatic lesions at all the sites with a residual hepatic lesion of 5.2cm. Further continuation of Trastuzumab and Paclitaxel was deferred in view of prohibitive cost. She received palliative radiotherapy to the right breast in Jan 2012. In view of extensive disease at diagnosis and inability to continue with conventional systemic therapy options, oral metronomic chemotherapy (OMCT) methotrexate, cyclophosphamide and metformin were prescribed. She tolerated OMCT well with no evidence of progressive disease over the next 3 years. OMCT was discontinued after an episode of prolonged thrombocytopenia in Apr 2015. Thereafter patient did not receive any anticancer therapy. Her recent PET CT showed no FDG avid lesion. Thus, she remains to be disease-free at the end of 8 years and possibly cured of her MBC.

This case raises our hopes for the cure in patients with metastatic her 2 positive breast cancer. Newer antiHer2 agents and chemotherapy form an integral part of our efforts towards long term disease control; however role OMCT in MBC needs to be explored further.

Case summary

We report the case of a 49-year old Filipino woman who presented with a one-week history of body weakness, behavioral changes, and disorientation. Prior to her consult, she was diagnosed to have hypertension and type 2 diabetes mellitus, both of which were controlled. She was completing treatment for pulmonary tuberculosis. She was drowsy, followed commands inconsistently, and was disoriented. She had no fever, headache, or seizures. A firm, palpable hypogastric mass was noted on physical examination. Metabolic causes of encephalopathy were ruled out. No lesions were seen on cranial CT scan, but a small meningioma was noted on cranial MRI. Cerebrospinal fluid studies were negative for tuberculosis and bacterial growth, but IgG was elevated and HSV was positive, but the patient was not treated with antivirals, given the low index of suspicion for HSV encephalitis. Electroencephalogram showed intermittent deta slowing of the background activity of both frontotemporal areas with no epileptiform discharges. In the setting of a possible hypogastric malignancy, paraneoplastic encephalitis was considered, and the patient underwent three cycles of methylprednisolone pulse therapy, which resolved her neurological symptoms. Subsequent work ups revealed a heterogenous complex abdominopelvic mass on ultrasound. CEA, AFP, CA 19-9, and CA-125 were within normal limits. She underwent exploratory laparotomy. Intraoperatively, a 17 x 14 x 14 cm bulky firm mass rising from the jejunum was noted, for which wide resection of the jejunal mass was performed. No ovarian masses were noted. Immunohistomorphologic features (spindle cell neoplasm, CD 34 positive, CD 117 positive, DOG-1 strongly positive, SMA positive, and S100 negative) were consistent with jejunal gastrointestinal stromal tumor. She has continued to receive imatinib, with good functional capacity, and has tolerated treatment well. To our knowledge, this is the first reported case of paraneopastic encephalitis in a patient with jejunal gastrointestinal stromal tumor.

Case summary

Primary squamous cell carcinoma (SCC) of renal parenchyma is a rare neoplasm. The diagnosis is usually unsuspected due to rarity and inconclusive clinical and radiological features. The condition is also associated with advanced stage at diagnosis and a poor prognosis. Different etiological factors have been implicated in the pathogenesis of upper tract SCC including renal calculi, hydronephrosis, chemical use/abuse, vitamin A deficiency, and hormonal imbalances. We report a case of a 30-year-old female with history of long-standing suspicion of renal calculi. Subsequently, it progressed into a right non-functioning kidney and right pyelonephritis. She underwent a right nephrectomy which was complicated with iatrogenic ascending colon injury warranting a right hemicolectomy. Histopathological examination of the right kidney specimen revealed acute on chronic pyelonephritis and right hemicolectomy specimen revealed perforation with surrounding inflammation. Her postoperative period was eventful. She suffered from persistent pus drainage, intra-abdominal collection and possible fistulation between second part of duodenum and right renal fossa collection. She underwent further surgical intervention with duodenal segmental resection and gastrojejunostomy. Histopathological examination from the latter surgery revealed squamous cell carcinoma. In view of the diagnosis, it prompted a second look into the initial nephrectomy specimen which revealed a foci of squamous metaplasia. The mainstay of treatment in SCC of renal parenchyma is radical surgical resection. Chemotherapy has been shown to be of modest benefit and often reserved in metastatic cases. Despite aggressive surgical intervention, prognosis remains poor. The suspicion of SCC should be acknowledged in in a patient with long history of renal calculi to prompt early diagnosis and definitive treatment.

Keywords: renal mass, kidney, renal pelvis squamous cell carcinoma

Case summary

DIAGNOSIS: Carcinoma of unknown primary with adnexal mass and hilar nodal mass BREIF HISTORY : 21/F, Student, Oligomenorrhea, (menses every 5-6 wks) LMP: 26/1/19 Developed on and off fever from feb 2019 associated with chest pain and cough a.w Rt Lumbar region pain CECT (25/2/19) : Right hilar and subcarinal L.N. mass 2.9 X 3.6 cm Right Upper Pulmonary vein compression Complete obstruction of middle lobe bronchus with collapse consolidation. Mild Right sided Pleural effusion .Sub Carinal Lymph Node Bx was done and evaluated further. Patient received antibiotics for few weeks and ATT was started and given for few days Negative for TB and other infection. HPR : Suspicious of thymic tumour IHC : CK (NNF) , ENA, p63 : Strongly positive TTF, CD20, CD3, CD68, CD 30 _ve CD 117, OcT 4, PAX8, CD 5 : Negative. IHC Positive for NUT Antibody . USG A+P (15/3/19) : Rt adnexal mass 45 X 40 mm Lt ovary . PET CECT (16/3/19) Rt Hilar necrotic mass 5.9 X 8.0 X 5.9 cm SUV 11.4 Multiple FDG Rt paratracheal L.N. Rt adnexal mass 6.1 X 4.6 X 4.9 cm Tumor Markers : Normal. CLINICAL IMPRESSION :NUT midline carcinoma with Hilar Lymhnodal mass and Ovarian mass Started on Etoposide+Cisplatin in v.o Ovary+Hilar nodal mass considering Germ Cell Tumor w.e.f 30/3/19 . After 2#: Clinically : Decreased cough and SOB. Radiologically : Decrease in size of conglomerate nodal mass 5.9x8 cms---> 2.8x1.7 cms Decreased collapse consolidation and encasement . Near total resolution of lymphangitis carcinomatosis complete resolution of Right pleural efusion . Moderate increase in ovary( midline pelvic mass) size from 6.1x4.6 ---> 9x5.2 cms. Planned to coninue 2#of E+P more followed by Sx Received C#3 w.e.f 15/5/19 to 19/5/19 and C#4 w.e.f 5/6/19 Response assessment : Clinically : Increase in cough and abdominal pain a.w on and off vomiting Radiologically : Increase in size of pelvic mass from 9x5.2 cms---->10.5x5.5cms with new onset freefluid in pelvis.Minimal clumping of small bowel loops is noted s.o adhesions.Nodal mass in chest and collapse consolidation of right middle lobe is stable. Met gynaecologist and adviced to undergo removal of pelvic mass . In v.o clinical and radiological progression adviced weekly Paclitaxel ( completed 3# Paclitaxel) and currently in the process of procuring BET inhibitors from BI Company on compassionate basis.

Case summary

We present a rare case of a patient with gliosarcoma, a variant of glioblastoma multiforme (GBM), who developed two recurrences and extracranial bony metastases. A 37 year old woman was diagnosed with IDH wild-type gliosarcoma in the frontal lobe, treated with gross macroscopic surgical complete resection followed by concurrent radiotherapy with temozolomide. Five months later she developed an extra-axial recurrence in the left frontal lobe, outside the initial radiotherapy field and was treated with further surgery and radiotherapy. A further six months later she developed a second left frontal recurrence, treated again with surgery and radiotherapy. Another six weeks later, she had further recurrence in the brain and biopsy confirmed bony metastases. After molecular profiling revealed RAD51, FANCE and CDK12 biallelic loss, she was enrolled on a clinical trial of anti-PD-1 and PARP inhibitor combination therapy, but died several weeks later due to progression of disease.

In order to understand the clonal relationships between the four tumor instances and the origin of the metastasis, whole genome sequencing of the three intracranial tumors and the iliac bone tumor was performed. The tumors displayed a large number of mutations and copy number alterations, including shared mutations in TP53, NF1, and RB1 and deletions in CDKN2A. Whole genome doubling was identified in the first recurrence and extracranial metastasis. The patient was found to have 13 germline variants associated with risk of development of glioma that likely contributed to the observed genomic instability. Clonal phylogeny of the metastatic to intracranial tumors highlighted a high similarity in molecular profile, but contrasting evidence regarding the origin of the metastasis. The metastatic tumor was most similar to the second recurrence with respect to mutational signatures, but most similar to the first recurrence with respect to copy number profile. Results of subclonal reconstruction suggested parallel evolution of the recurrent tumors, and that the metastatic tumor was largely derived from the first recurrence. This is the first analysis of clonal evolution of extracranial metastasis in gliosarcoma and highlights alterations driving aggressive GBM progression.

Case summary

BACKGROUND:

Intracranial extra skeletal myxoid chondrosarcoma is an extremely rare entity and are thought to arise from the choroid plexus, dura or in rare instances from the pineal region.They constitute a distinct genomic entity characterized by reciprocal translocation of fusion genes, most commonly EWSR1 in 22q12 with NR4A3 in 9q2-q31.1.They are considered to have a high risk of local recurrence and potential for metastasis. Here we report a case of intraventricular myxoid chondrosarcoma in a young male, who underwent surgery and adjuvant radiation.

CASE SUMMARY:

A 27 year old male, evaluated for complaints of headache, seizures and pain in the neck, MRI whole spine was normal. MRI Brain showed a lesion in right lateral ventricle. He underwent right parieto occipital craniotomy with subtotal excision. Postop HPE was Ependymoma, WHO grade II. Referred to our institute for further management. Systemic examination was unremarkable. Postop MRI Brain showed no evidence of focal enhancing areas with post operative gliosis in right parietal lobe communicating with right lateral ventricle with dilated temporal and occipital horns.

Blocks and slides review along with IHC revealed vimentin and CD99 positive while GFAP, pancytokeratin, CD 34, S100 negative, Ki 67 low. FISH for EWSR1 gene positive. Final possibilities were Myxoid Chondrosarcoma or Primary Intracerebral myxoid neoplasm with EWSR1 fusion.

Discussed in multidisciplinary board and planned for adjuvant radiation. A total dose of 5400cGy in 30 fractions at 180cGy per fraction was delivered using 6MV photons with IGRT technique. Patient tolerated treatment well with grade 1 skin reactions and alopecia. At 9 months post radiotherapy, patient is asymptomatic and MRI Brain appears normal.

DISCUSSION:

Based on literature review, 13 cases of intra cranial extraskeletal myxoid chondrosarcoma has been reported till date since its first description in 1972. This would be the 14th case overall and second case of intraventricular origin to be reported till date. Owing to its rarity and limited literature, there is no standard treatment guidelines available. Combined modality approach with surgery followed by radiotherapy provides good local control with low morbidity.