Ectopic breast cancer (EBC) is a rare condition in which lymphatic drainage mapping can be challenging due to its variable anatomical locations along the milk line, extending from the axilla to the groin. The EBC arising from the abdominal wall represents a unique challenge, as lymphatic drainage is unpredictable and may involve the axillary and/or inguinal nodal basins. Indocyanine green (ICG) fluorescence has recently emerged as a reliable tracer guiding sentinel lymph node biopsy (SLNB) in orthotopic breast cancer; however, its use in EBC has not yet been reported. Hereby, we report a case of a 64-year-old postmenopausal Caucasian woman who presented with a progressively enlarging mass arising from an ectopic breast tissue in the left upper anterior abdominal wall. Core biopsy revealed invasive papillary carcinoma of breast tissue with associated ductal carcinoma in situ. The patient underwent excision of the ectopic breast tissue involving the EBC with SLNB using ICG fluorescence as the sole tracer. Real-time fluorescence imaging demonstrated lymphatic drainage to the ipsilateral axilla with no inguinal drainage identified. One axillary sentinel lymph node was excised and was negative for metastasis. At one-year follow-up, there was no evidence of recurrence or distant metastasis. To our knowledge, this is the first report describing the use of ICG fluorescence for lymphatic mapping in EBC to guide SLNB. The ability to visualize lymphatic drainage intraoperatively was particularly valuable given the aberrant tumor location and the potential for variable lymphatic drainage pathways. We also reviewed the existing literature on cases of EBC arising from abdominal wall, highlighting the variability in lymphatic drainage patterns and the inconsistent use or underreporting of lymphatic mapping techniques and SLNB, resulting in limited understanding of nodal staging and potential implications for management strategies.
Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome associated with increased risks of malignant peripheral nerve sheath tumors (MPNSTs) and early-onset breast cancer, requiring lifelong surveillance and multidisciplinary management. However, the clinical impact of disrupted surveillance and delayed genetic evaluation in adults with NF1 remains insufficiently described. We report the case of a 37-year-old woman with clinically recognizable NF1 who declined surgical treatment for a cervical plexiform neurofibroma (PN) due to concerns regarding functional impairment and was subsequently lost to follow-up. After 12 years, she presented with an advanced MPNST arising from the PN and synchronous metastatic triple-negative breast cancer. Tumor–normal MPNST sequencing identified a germline pathogenic NF1 truncating variant (p.Arg2637*) and a somatic second-hit NF1 alteration (p.Leu1505Serfs*63), consistent with biallelic NF1 inactivation, along with additional alterations involving EED and CDKN2A/MTAP. We identified no clinically actionable alterations, and standard systemic therapies provided limited clinical benefit. Despite multimodal treatment, the patient died approximately 1 year after diagnosis. This case illustrates how interrupted surveillance and delayed genetic evaluation in NF1 could contribute to the delayed recognition of aggressive malignancies and highlights the importance of genetic counseling, structured longitudinal surveillance, and coordinated multidisciplinary care.
While molecular targeted therapy development has expanded the potential for individualized cancer treatment, the optimal therapeutic strategy for patients with complex comorbidities, including renal impairment, remains insufficiently established. We report a case of advanced ovarian cancer in a patient undergoing maintenance hemodialysis who received olaparib, with serial plasma drug concentration measurements performed to characterize its pharmacokinetic profile and provide insights into safe and effective treatment in patients on hemodialysis. A 65-year-old woman with chronic renal failure who was undergoing thrice-weekly maintenance hemodialysis was diagnosed with stage IVB high-grade serous ovarian carcinoma harboring a pathogenic BRCA1 variant identified by tumor testing. Following the first-line chemotherapy, oral olaparib tablets (300 mg/day) was initiated as maintenance therapy. Plasma olaparib concentrations were measured on dialysis and non-dialysis days. Drug concentrations on both days increased to levels comparable to those reported in the package insert (400 mg/day tablet formulation) and in a previously published case of a hemodialyzing patient receiving 400 mg/day in capsule form. No adverse events other than anemia requiring dose interruption, dose reduction, or treatment discontinuation were observed. The initial dose of 300 mg/day was maintained throughout treatment, enabling continued outpatient management until disease progression occurred 2 months later. In this case, olaparib (300 mg/day) was tolerated and achieved plasma concentrations comparable to those observed in non-dialyzing patients receiving olaparib (400 mg/day). Further evidence regarding the association between plasma olaparib concentrations and toxicity in patients on hemodialysis is warranted to optimize treatment strategies.
A 77-year-old man with low rectal cancer (cT3N0M0) underwent laparoscopic intersphincteric abdominoperineal resection. During the transanal phase, the Lone Star® Retractor System was used, and the anterior wall of the anal canal was slightly injured. Histopathological examination showed T3N0M0 disease with the closest circumferential resection margin measuring 0.6 mm. Computed tomography (CT) performed 3 months after surgery demonstrated a presacral soft-tissue lesion with an enhancing nodule, which remained stable over time and was considered a postoperative change. At 28 months after surgery, perineal bleeding led to the discovery of a friable 3-cm cutaneous tumor in the perineal region, which was locally resected. Histopathology revealed moderately differentiated tubular adenocarcinoma with extensive necrosis. Immunohistochemistry showed cytokeratin (CK) 7 negativity, CK20 positivity, and caudal-type homeobox 2 positivity, consistent with rectal cancer origin. Because the excision margin of the recurrent lesion was negative and CT showed no definite continuity with the presacral lesion, the tumor was regarded as perineal cutaneous recurrence. Although rare, perineal recurrence can occur after rectal cancer surgery. This case highlights the importance of margin-oriented surgical planning and suggests that careful perineal inspection may be considered during postoperative surveillance.
Cyclophosphamide is a commonly used alkylating chemotherapy agent in the treatment of neoadjuvant, adjuvant, and metastatic breast cancer. Sudden onset, symptomatic, and severe hyponatremia (defined as serum sodium < 125 mmol/L) is a rare but potentially life-threatening complication associated with cyclophosphamide use. We report a case of severe acute hyponatremia in a 47-year-old female patient diagnosed with invasive ductal breast carcinoma. The patient received low-dose cyclophosphamide as part of adjuvant chemotherapy and experienced generalized tonic-clonic seizures within the first 24 h. Laboratory investigations revealed severe hyponatremia with a serum sodium level of 111 mmol/L. Neurological imaging and endocrine evaluations ruled out alternative causes. Cyclophosphamide-induced SIADH was considered the most likely cause of the patient’s severe hyponatremia. Hypertonic saline therapy was initiated, leading to rapid normalization of serum sodium levels and complete resolution of neurological symptoms. Following discontinuation of thiazide-containing antihypertensive therapy, subsequent chemotherapy courses were completed without recurrence of hyponatremia. This case highlights the potential for life-threatening hyponatremia even with low-dose cyclophosphamide use and underscores the critical importance of early electrolyte monitoring, particularly in patients receiving concomitant diuretics.
Endobronchial fungal colonization can obscure an underlying obstructive neoplasm in limited bronchoscopic biopsies, posing a significant diagnostic challenge. We report an immunocompetent 55-year-old woman presenting with an obstructing endobronchial mass whose bronchoscopic biopsy revealed a well-differentiated neuroendocrine neoplasm with abundant septate fungal hyphae confined to necrotic intraluminal debris. Tumour cells showed diffuse synaptophysin, chromogranin A, INSM1 and OTP expression with a Ki-67 proliferation index < 2
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the digestive tract; however, cases originating from the small intestine that present as a pelvic adnexal mass with prominent calcification and ossification are extremely rare. Here we report a 55-year-old female patient who was found to have a pelvic mass during a routine health examination. Preoperative imaging revealed a hypervascular lesion with ossification in the right adnexal region, initially suspicious for an ovarian neoplasm. Retrospective analysis of the imaging data revealed that the tumor’s feeding vessels originated from branches of the superior mesenteric artery rather than the ovarian artery, and despite its pelvic location, the tumor did not cause significant compression on adjacent organs such as the bladder, suggesting it might be an intestinal-derived dropping mass. Pathology confirmed a small intestine-originated GIST (mixed spindle cell and epithelioid type) with extensive calcification and ossification within the tumor. Immunohistochemistry showed positivity for CD117 and DOG1, and molecular testing identified a KIT gene exon 11 mutation c.1676T > A (p.V559D). The postoperative risk classification was low risk. This case underscores that for a calcified/ossified pelvic mass, the possibility of an intestinal GIST dropping into the pelvis should be strongly considered, and attention should be paid to the vascular origin features on imaging and the analysis of tumor mobility.
Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive soft-tissue tumor which requires wide surgical resection. Therefore, assessment of adjacent organ invasion is crucial for surgical planning. Cine magnetic resonance imaging (cine MRI) is a technique for dynamic evaluation of organ motion and has demonstrated a clear diagnostic value in determining the absence of tumor adhesion or invasion in previously reported cases of various malignancies. We report the case of a woman in her 50s with a 20-cm anterior abdominal wall DFSP. Preoperative contrast-enhanced computed tomography and conventional MRI sequences identified no intervening fat plane between the tumor and the liver, indicating potentially extensive contact with segment IV of the liver and making definitive exclusion of hepatic invasion difficult. To assess tumor mobility, cine MRI was performed using a T2-weighted single-shot fast spin echo sequence combined with deep learning–based reconstruction during deep respiration. Cine MRI showed residual respiratory-dependent sliding motion between the tumor and the liver, supporting the absence of hepatic invasion. Based on this finding, the surgical plan was modified to avoid unnecessary partial hepatectomy. Surgical and histopathological findings confirmed the absence of hepatic invasion. This case suggests that assessment of sliding motion on cine MRI may support informed surgical planning when adjacent organ invasion is suspected in soft-tissue sarcomas.
This study aims to present the diagnosis, treatment process, and clinical course of a patient with advanced rectal adenocarcinoma presenting with rare duodenal metastases. A 47-year-old male patient presented with constipation. A mass obstructing the entire lumen was detected in the rectosigmoid region, and the biopsy result was reported as rectal adenocarcinoma. Clinical staging was determined as T4aN2bM0. Due to the obstruction, a loop sigmoidostomy was performed, and Total Neoadjuvant Therapy (TNT) was planned. Within the scope of TNT, 5- Fluorouracil (5-FU), Oxaliplatin, Capecitabine, and 25 fractions of radiotherapy were administered. Surgically, Low Anterior Resection (LAR) was performed, and pathology confirmed pT4N2, with the presence of lymphovascular and perineural invasion. In the fifth postoperative month, preaortic and paraaortic lymphadenopathy was detected; a KRAS mutation was identified. Partial regression was observed in the lymph nodes following the new chemotherapy regimen (5-FU +Irinotecan+Bevacizumab), but cholestasis developed. Imaging and Endoscopic Retrograde Cholangiopancreatography (ERCP) revealed ulcerative metastatic masses in the duodenum and ampulla of Vater regions. Biopsy results and immunohistochemical analyses (CDX2, SATB2, Beta-Catenin) confirmed colon adenocarcinoma metastasis. Next-generation sequencing (NGS) analysis showed a recurrent KRAS mutation, stable microsatellite stability(MSI), and intact Mismatch Repair (MMR). Although symptomatic relief was achieved with biliary drainage and a duodenal stent, advanced metastases (liver, adrenal, bone) developed. Duodenal metastasis in patients with rectal adenocarcinoma is rare but clinically severe and has a poor prognosis. This case demonstrates the rare metastatic pathways of advanced colorectal cancer, management challenges, and palliative treatment strategies. Keywords: Rectal cancer; Duodenal metastasis; Intraluminal metastasis; KRAS mutation; Colorectal cancer.
Brugada syndrome (BrS), a genetic disease with complex pathophysiology due to genetic and pharmacological factors, might lead to ventricular arrythmia and sudden cardiac arrest. Entrectinibe, a novel kinase inhibitor, is currently used for the treatment of metastatic of non-small cell lung cancer (NSCLC). Its adverse effects include rarely cardiotoxicity, malignant arrythmias and left ventricular myocardial dysfunction, which is highlighted in this case report. We present the case of a 52-year-old Caucasian female with a history of NSCLC and a recent initiation of Entrectinib due to cancer relapse. Three days later, the patient was diagnosed with almost asymptomatic atrial fibrillation (AF) and left bundle branch block (LBBB) which were automatically converted to sinus rhythm and a Brugada Type I pattern, which in turn was automatically resolved and replaced by a normal ECG pattern. The above-described ECG phenomena lasted for just a few hours. Entrectinib treatment was discontinued after Oncology consultation. Unexpected cardiotoxicity and arrhythmogenicity should be monitored when administrating new anti-cancer drugs. In the case of pre-existing Brugada pattern, Entrectinib is contra-indicated as it can followed by malignant ventricular arrhythmias. Additionally, treatment with Entrectinib must be interrupted in the presence of a QT prolongation (> 500msec) or/and syncope or when a newly diagnosed Brugada pattern appears. The management of these patients must be individualized according to their status and the existence of comorbidities while the role of a Cardiologist is essential.
Potential interactions between gemcitabine and warfarin have been described in case reports. However, it has been argued that the available data are insufficient to support this interaction due to the limited number of cases. We present the case of a patient who developed prolongation of prothrombin time/international normalized ratio (PT/INR) following gemcitabine administration while receiving warfarin. The patient was a 58-year-old man with Marfan syndrome who had been receiving warfarin for 30 years, usually at a dose of 8–10 mg. He was diagnosed with primary testicular leiomyosarcoma and subsequently experienced a relapse of pulmonary metastases following orchiectomy. After an inadequate response to doxorubicin, combination therapy with gemcitabine and docetaxel (intravenous gemcitabine 900 mg/m2 on days 1 and 8 and intravenous docetaxel 75 mg/m2 on day 8 every 3 weeks) was initiated as second-line treatment. At the start of this combination therapy, the patient was receiving a daily warfarin dose of 10 mg. Following initiation of gemcitabine, two consecutive episodes of INR prolongations were observed 2 days after each administration. The INR increased from 2.04 to 2.44 on day 36 and from 1.87 to 2.66 on day 43, accompanied by Grade 2 elevation in aspartate aminotransferase and alanine aminotransferase levels. Total bilirubin remained within normal limits. His daily warfarin dose was reduced and maintained at 6.0 mg, resulting in INR values ranging between 2.0 and 2.5. Although the precise mechanism remains unclear, gemcitabine-induced hepatic dysfunction may have contributed to the enhanced anticoagulant effect of warfarin. Given the potential for early INR elevation, close INR monitoring during the initial phase of gemcitabine therapy may be warranted in patients receiving concomitant warfarin.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN), formerly known as CD4+/CD56 + hematodermic neoplasm or blastic natural killer cell lymphoma, is a rare tumor classified as a dendritic cell neoplasm. Here, we report a case of BPDCN with pelvic invasion arising from the right buttock that was treated with radiation therapy alone. A 79-year-old Japanese man presented with symptoms that resembled those of an anal fistula during defecation. He noticed a mass in his right buttock 2 months earlier. Biopsy of the lesion confirmed the diagnosis of BPDCN. Physical examination revealed a 10 × 8 cm ulcerated, dark red tumor extending from the right buttock to the anus. Computed tomography revealed a bulky mass infiltrating the skin of the right buttock into the rectum and prostate, accompanied by metastasis to the left inguinal lymph node. Radiation therapy alone, delivered at a total dose of 45 Gy in 18 fractions to both the primary lesion and metastatic lymph node, achieved an excellent therapeutic response. Five months after irradiation, the patient died of sepsis resulting from the progression of an out-of-field lesion in the left pelvis; however, local control within the irradiated area was well maintained. This case highlights the efficacy of radiation therapy for BPDCN with bulky tumor formation and pelvic invasion. We also discussed the optimal radiation dose for BPDCN.
Hydrogel rectal spacers such as SpaceOAR are widely used to reduce rectal radiation exposure during prostate radiotherapy and are generally considered safe. However, spacer-related complications have occasionally been reported. We report a case of transient rectal edema associated with urinary retention during radiotherapy following hydrogel spacer placement. A 78-year-old man with high-risk prostate cancer underwent androgen deprivation therapy followed by definitive external beam radiotherapy after SpaceOAR implantation. Magnetic resonance imaging performed nine days after spacer insertion confirmed appropriate placement between the prostate and rectum. During the course of radiotherapy, progressive rectal wall swelling was observed on serial cone-beam computed tomography, and the patient developed acute urinary retention requiring intermittent self-catheterization. Radiotherapy was continued because the patient remained clinically stable without fever, pain, or bleeding. Post-treatment magnetic resonance imaging demonstrated diffuse rectal wall edema with partial disruption of the rectal wall and hydrogel infiltration into the rectal lumen. Despite these radiologic findings, the patient remained clinically stable, and urinary symptoms resolved spontaneously without invasive intervention. Follow-up imaging demonstrated gradual resolution of the hydrogel and healing of the rectal wall. This case provides important insight into the potential spectrum of hydrogel spacer–related tissue reactions during RT. Although most previously reported spacer-related complications involve rectal injury or infection requiring intervention, the present case demonstrated that transient inflammatory changes may occur and can resolve with conservative management. Careful imaging evaluation and close clinical observation may help distinguish transient inflammatory reactions from severe complications requiring urgent intervention, thereby potentially avoiding unnecessary treatment interruption or surgical procedures in clinically stable patients. In addition, serial CBCT obtained during daily image-guided radiotherapy provided valuable information regarding the temporal evolution of pelvic tissue changes and may contribute to early recognition of clinically significant inflammatory reactions during treatment.
Radiation recall phenomenon (RRP) is an inflammatory reaction occurring in previously irradiated tissues after exposure to certain drugs, and very late-onset cases are exceptionally rare. We report a 58-year-old woman with Human Epidermal Growth Factor Receptor 2 (HER2)-positive, estrogen receptor (ER) / progesterone receptor (PgR)-positive invasive ductal carcinoma of the left breast who had undergone contralateral mastectomy and radiotherapy 32 years earlier. During neoadjuvant docetaxel, carboplatin, trastuzumab, and pertuzumab, she developed rapidly progressive ulceration and necrosis confined to the prior radiation field on the right chest wall. Docetaxel and carboplatin were discontinued while trastuzumab and pertuzumab were continued. Intensive dermatologic management, including repeated surgical debridement and topical therapy, was required, and substantial epithelialization was achieved only after an approximately two-year course, highlighting a protracted recovery. The clinical course was considered most consistent with severe late-onset radiation recall dermatitis (RRD) superimposed on chronically vulnerable irradiated tissue. Clinicians should consider RRD during systemic therapy in patients with a history of radiotherapy, even decades after treatment, and should distinguish it from chronic radiation injury, infection, and recurrent cancer.
Malignant transformation within an intestinal duplication cyst is uncommon and rarely detected preoperatively. Here, we report a 28-year-old man who presented with vomiting along with a progressively enlarging abdominal lump and weight loss. Imaging revealed a large cystic intra-abdominal lesion with a mural solid component and focal calcifications, but the diagnosis remained uncertain. Surgical excision was performed, and histopathological examination demonstrated a moderately differentiated adenocarcinoma arising within a non-communicating ileal duplication cyst. The patient remained clinically stable without evidence of recurrence at the six-month follow-up. This case highlights the diagnostic limitations of imaging and emphasizes the importance of complete excision and meticulous histopathological examination of adult duplication cysts, particularly when mural nodularity or other suspicious features are present.
Lung cancer remains the leading cause of cancer-related mortality worldwide, with squamous cell carcinoma (SCC) ranking as the second most common subtype of non-small cell lung cancer (NSCLC). While distant metastasis is frequently observed in lung cancer, isolated renal metastasis is extremely uncommon. We report a case of a 33-year-old never-smoking female diagnosed with lung SCC, initially treated with neoadjuvant chemotherapy followed by curative surgery. After three years of disease-free status, routine follow-up imaging revealed a solitary renal mass, which was confirmed as metastatic lung SCC through histopathological and immunohistochemical analysis. Molecular analysis demonstrated the presence of an epidermal growth factor receptor (EGFR) exon 19 deletion mutation. The patient underwent partial nephrectomy, and targeted therapy with an EGFR inhibitor was initiated. This case underscores the importance of vigilant long-term follow-up in lung cancer survivors, as renal metastases often remain asymptomatic and are incidentally detected. Given the rarity of isolated renal metastases, no standardized guidelines exist for management, though surgical resection combined with systemic therapy appears beneficial in select cases. Further studies are needed to establish optimal treatment guidelines and assess the role of emerging therapies in managing solitary renal metastases from lung SCC.
Nanoliposomal irinotecan (nal-IRI) plus fluorouracil/leucovorin (5-FU/LV) has become an established regimen for pancreatic ductal adenocarcinoma (PDAC) after gemcitabine-based therapy; however, complete response remains exceptionally rare. Here, we describe a 70-year-old female patient under surveillance for branch-duct intraductal papillary mucinous neoplasm who developed a new hypovascular pancreatic head mass ( 30 mm) with > 180° contact to the portal vein, consistent with borderline resectable PDAC. Adenocarcinoma was confirmed by endoscopic ultrasound-guided tissue acquisition. Initial therapy comprised gemcitabine plus nab-paclitaxel, but the patient showed radiographic and biochemical progression. Modified FOLFIRINOX (oxaliplatin, irinotecan, leucovorin (LV), and 5-fluorouracil (5-FU)) was attempted as second-line therapy, but discontinued after one cycle due to Grade 3 myelosuppression and severe fatigue. Subsequently, nal-IRI + 5-FU/LV was administered as third-line therapy for 10 cycles and toxicity was manageable. Follow-up contrast-enhanced computed tomography revealed marked tumor regression and resolution of previously observed right lower-lobe pulmonary opacity. Following multidisciplinary reassessment and with informed consent, subtotal stomach-preserving pancreaticoduodenectomy was performed. The resected specimen showed a 13 mm fibrotic scar without residual viable carcinoma and no lymph node metastasis was identified, meeting criteria for pathological complete response. At 25-month follow-up, the patient remained disease-free. This case provides evidence that nal-IRI + 5-FU/LV may induce profound tumor regression in carefully selected patients with preserved performance status and favorable baseline factors, enabling potentially curative resection after failure or intolerance to standard first-line regimens.
