Primary synovial sarcoma in anal canal: Report of a very rare case.

Extensive studies are required to understand the behavior as well as prognosis of SS in the colorectal region. IHC staining is essential for the accurate diagnosis when a lesion is encountered at an unusual site.

Pruritus related to trastuzumab and pertuzumab in HER2 + breast cancer patients.

PURPOSE: The combination of trastuzumab and pertuzumab (HP) as part of a taxane-based regimen has shown benefit in the adjuvant and metastatic HER2 + breast cancer setting. In the CLEOPATRA trial, pruritus was reported in 11-17.6% of patients. The clinical phenotype and potential treatment strategies for this event have not been reported. METHODS: A retrospective review of 2583 patients receiving trastuzumab and pertuzumab for the treatment of HER2 + breast cancer from 11/23/2011 to 6/21/2021 was performed at Memorial Sloan Kettering Cancer Center (MSKCC). Patient demographics, pruritus characteristics, and treatments as documented in the electronic medical record (EMR) were included in this analysis. RESULTS: Of 2583 pts treated with HP, 122 (4.72%) with pruritus were identified. On average, patients experienced pruritus 319.0 days (8-3171) after initiation of HP. The upper extremities (67.4%), back (29.3%), lower extremities (17.4%), and shoulders (14.1%) were the most commonly affected regions. Grade 1/2 pruritus (97.6%) occurred in most cases. Patients responded primarily to treatment with topical steroids (52.2%), antihistamines (29.9%), emollients (20.9%), and gabapentinoids (16.4%). Of those with pruritus, 4 patients (3.3%) required treatment interruption or discontinuation. CONCLUSIONS: Pruritus is uncommon in patients on trastuzumab and pertuzumab, generally a chronic condition, with gabapentinoids or antihistamines representing effective therapies.

Hypokalemic periodic paralysis in a teenage boy after an intense period of exercise: A rare case report.

Key Clinical Messages: Diagnosis of rare even can be missed due to less familiarity with the disorder.In patients with muscle weakness, infectious causes are prioritized.Electrolyte profile not only identifies the problem, but also prevents unnecessary workup. Abstract: In underdeveloped countries, diagnosis of rare disorders is usually delayed due to less familiarity of the clinicians to such disorders. As a result, infectious and inflammatory causes for an ailment are prioritized as compared to non-infectious etiologies. Hypokalemic periodic paralysis (PP) is a rare disorder, characterized by episodic muscle weakness that can rarely be associated with life-threatening cardiac arrhythmia. A teenage Afghan boy presented to the emergency department with an acute flaccid paralysis, that started 1 h after intense exercise The weakness involved both, the upper and lower extremities. Laboratory investigations, led to the impression of hypokalemic PP, precipitated by intense exercise. Accordingly, intravenous potassium chloride infusion diluted with normal saline led to the complete resolution of paralysis as well as correction of electrocardiographic changes. The list of differential diagnosis for flaccid muscle paralysis is wide, which generally requires a extensive investigations, but in hypokalemic PP, a cardinal electrolytes profile can lead towards early diagnosis. High degree of clinical suspicion with appropriate history taking and physical examination helps with the immediate identification and management of this disorder.

Demographic and clinical characteristics of acute myeloid leukaemia diagnosed and treated at the tertiary level in Afghanistan.

A retrospective case series design was conducted to elucidate the demographic features of acute myeloid leukaemia in Afghanistan. This study was conducted at Jamhuriat Hospital and French Medical Institute for Mothers and Children, Kabul, Afghanistan. A total of 203 patients with AML diagnosed and managed at Jamhuriat Hospital from 1 March 2018 to 31 March 2020, were included in the current study. The median age at diagnosis was 27 years. Housewives represented the largest subset of patients from an occupational point of view constituting 37.44% of the total sample population and 81.72% of the female population, followed by 20.69% patients who were students of which 14.77% were male and 5.91% were female, and 17.24% were farmers, which constituted 31.81% of the male population. Similarly, 69.95% of individuals presented with infection, 57.14% presented with bone tenderness, 46.3% presented with bleeding tendencies, 55.66% had hepatomegaly and/or splenomegaly, and 27.58% of patients had lymphadenopathy. Considering the chemotherapeutic regime, 64.53% of the individuals received standard 7 + 3 (cytarabine + daunorubicin) induction regimen, 10.68% of those received 5 + 2 re-induction chemotherapy (cytarabine + daunorubicin). 10.84% who were diagnosed with acute promyelocytic leukaemia received all-trans-retinoic acid + arsenic trioxide, while 5.42% of patients defaulted chemotherapy. High prevalence was noted in young individuals. Similarly, a high proportion of patients were constituted by housewives.

Pruritus Related to Trastuzumab and Pertuzumab in HER2+ Breast Cancer Patients.

Purpose: The combination of trastuzumab and pertuzumab (HP) as part of a taxane-based regimen has shown benefit in the adjuvant and metastatic HER2+ breast cancer setting. In the CLEOPATRA trial, pruritus was reported in 11-17.6% of patients. The clinical phenotype and potential treatment strategies for this event have not been reported. Methods: A retrospective review of 2583 patients receiving trastuzumab and pertuzumab for the treatment of HER2+ breast cancer from 11/23/2011 to 6/21/2021 was performed at Memorial Sloan Kettering Cancer Center (MSKCC). Patient demographics, pruritus characteristics, and treatments as documented in the electronic medical record (EMR) were included in this analysis. Results: Of 2583 pts treated with HP, 122 (4.72%) with pruritus were identified. On average, patients experienced pruritus 319.0 days (8-3171) after initiation of HP. The upper extremities (67.4%), back (29.3%), lower extremities (17.4%), and shoulders (14.1%) were the most commonly affected regions. Grade 1/2 pruritus (97.6%) occurred in most cases. Patients responded primarily to treatment with topical steroids (52.2%), antihistamines (29.9%), emollients (20.9%), and gabapentinoids (16.4%). Of those with pruritus, 4 patients (3.3%) required treatment interruption or discontinuation. Conclusions: Pruritus is uncommon in patients on trastuzumab and pertuzumab, generally a chronic condition, with gabapentinoids or antihistamines representing effective therapies.

Albright hereditary osteodystrophy: Delay in the diagnosis of a rare disorder due to restricted medical services.

A teenage Afghan girl presented with seizure. Clinical features and laboratory investigations revealed elevated serum parathormone, high phosphate levels with low serum calcium. In third-world countries, diagnosis of rare disorders, such as Albright hereditary osteodystrophy (AHO), can usually be delayed due to scarcity of standard medical and diagnostic services.

Cutaneous lymphomas in African American/Black patients: pitfalls and presentations.

This review describes and highlights differences in clinical presentations of cutaneous lymphomas (CLs), particularly in darker skin types, i.e., Skin of Color (SOC). We illustrate differences in clinical features on physical exam that can be a diagnostic challenge and suggest ways to recognize and identify these conditions at an early stage through a high level of suspicion. The review includes a summary of the epidemiology of various CLs, specifically highlighting the presentation and incidence in African American/Black patients, where the data are available. We also include a discussion of adult HTLV-1-associated T-cell leukemia/lymphoma (ATLL) which, although a systemic T-cell lymphoma, may present with skin manifestations and mimic MF, other CTCL subtypes, or other inflammatory dermatoses. Finally, this review highlights the possible use of imaging modalities, such as dermoscopy and reflectance-confocal microscopy, in diagnosing and recognizing cutaneous lymphomas in patients with darker skin types.

Efficacy of immunotherapy with combination of cryotherapy and topical imiquimod for treatment of Kaposi sarcoma.

Multiple treatment modalities for Kaposi sarcoma (KS) have been reported, including chemotherapy, radiation therapy, surgical excision, electrochemotherapy, and cryotherapy. Common topical treatments include timolol, imiquimod, and alitretinoin. We searched our institutional database for patients with ICD-9 or 10 codes for KS seen by a dermatologist with experience in KS management from July 1, 2004 to January 1, 2022. We screened patient charts to include patients who received combination therapy of cryotherapy followed by topical imiquimod three times a week for 2 months (n = 9). Patients were followed in the clinic every 3 months. Time to resolution was assessed by photographic evidence of resolution as determined by a dermatologist and corroborated with clinical documentation in patient charts. Median age (IQR) at KS diagnosis was 58 (27.5) years. All patients were male (n = 9, 100%). Majority were white (n = 7, 78%) and non-Hispanic (n = 8, 89%). Five (56%) had classic KS, one (11%) had HIV-associated KS, and three (33%) were HIV-negative men who have sex with men. Median time to resolution was 30.5 weeks, with a median of two treatments. In our study, 93% (n = 42/45) of lesions and 89% (n = 8/9) of patients experienced complete resolution during a median (range) duration of follow-up of 58 (13-209) weeks. Side effects were limited to pain during cryotherapy, occasional blister formation after cryotherapy, and mild inflammation due to imiquimod. No infections were observed. Combination therapy of cryotherapy and topical imiquimod may be an efficacious and comparatively low-risk treatment for limited, cutaneous KS.

Risk factors associated with esophageal cancers, diagnosed at tertiary level in Afghanistan: a descriptive cross-sectional study.

BACKGROUND: Worldwide, esophageal cancer (EC) is a common cancer in term of incidence and mortality and is the 4th common cancer in Afghanistan. Current study aimed to evaluate the profile of risk factors for EC among patients diagnosed at tertiary level in Afghanistan. METHODOLOGY: A descriptive cross-sectional study was carried out between January 2019 up to February 2021 including all esophageal cancers diagnosed at pathology department of French Medical Institute for Mothers and Children, Afghanistan. RESULT: 240 diagnosed cases were analyzed, in which 59.40% of squamous cell carcinoma and 41.07% Adenocarcinoma. Both histopathological type of were predominantly diagnosed in males. The majority of the patients were residents of rural areas. More than 80% of the patients were illiterate with only less than 2% completing higher education. Majority of the patients were laborers and farmers while less than 10% were employed. According to income assessment, more than 80% were from low-income household, the rest from middle-income and none from high-income family. Oral snuff consumption was noted in 33.9% of squamous cell carcinoma patients and 40% adenocarcinoma patients whereas, family history of esophageal cancer was observed in 37.8% and 36.7% in both types of carcinomas, respectively. More than 60% of both types of carcinomas patients were hot tea drinkers. CONCLUSION: Current study demonstrated that most patients diagnosed with esophageal cancers were male, uneducated, belongs to low-income groups, lives in rural areas. These findings suggest distribution of esophageal cancer in specific socioeconomic groups, clearly demonstrating the need further analytical study.

Acute lymphoblastic leukemia with clonal evolution due to delay in chemotherapy: A report of a case.

Clonal evolution in acute leukemias is one of the most important factors that leads to therapeutic failure and disease relapse. Delay in therapeutic intervention is one of the reasons that leads toward clonal evolution. In this report, we present a case of acute lymphoblastic leukemia in which therapeutic delay resulted in clonal evolution that was detected by conventional karyotyping and was responsible for non-responsiveness of the disease to conventional chemotherapy. A 17-year-old boy presented with generalized body aches, rapidly progressive pallor and lethargy. Bone marrow analysis was consistent with the diagnosis of B-cell ALL. Karyotypic analysis revealed 46, XY male karyotype. The patient left the hospital due to financial reasons and after 40 days came back to the hospital. Repeated bone marrow analysis including cytogenetic studies revealed presence of three different clones of blast cells: one clone showed 46, XY with del(9p) and t (11;14), second clone showed 46, XY with del(7q) and del(9p), and the third clone showed 46, XY normal karyotype. The patient did not respond to chemotherapy and died within 1 week of induction chemotherapy (HyperCVAD-A). Timely diagnosis and institution of chemotherapy in acute leukemias patients is the key to prevent clonal evolution and thus resistance of the disease to therapeutic interventions.

Rare additional chromosomal abnormalities in acute promyelocytic leukaemia resulting in rapidly fatal disease: report of a case.

Background: Acute promyelocytic leukaemia results from reciprocal translocation between the long arms of chromosomes 15 and 17. This translocation leads to the formation of chimeric gene, which is both the diagnostic marker as well as the therapeutic target of the disease. Additional chromosomal abnormalities are randomly encountered either at diagnosis or during therapy. Here, we present a case of acute promyelocytic leukaemia that had a rare cytogenetic profile at diagnosis. Case presentation: Our patient was a 14-year-old boy, who presented with characteristic clinical and morphological features of acute promyelocytic leukaemia. Karyotypic analysis revealed trisomy of chromosome 8 with deletion of 9p in addition to t(15;17). The patient passed away within the first 8 h of presentation while receiving conventional chemotherapy and haemodynamic resuscitation. Conclusion: Our patient presented with a rare cytogenetic profile and rapidly progressive disease. According to our extensive literature search, this was the first case of acute promyelocytic leukaemia having pathognomonic t(15;17) along with trisomy 8 and 9q deletion.

Dermatologic Events Associated with the Anti-CCR4 Antibody Mogamulizumab: Characterization and Management.

The CCR4-directed monoclonal antibody mogamulizumab has been shown to significantly improve progression-free survival and overall response rate compared with vorinostat in adults with relapsed/refractory mycosis fungoides (MF) and Sézary syndrome (SS). One of the most common adverse events seen with mogamulizumab in MF/SS patients is rash. Because of the protean nature of MF/SS and the variable clinical and histopathological features of mogamulizumab-associated rash, healthcare providers may have difficulty distinguishing rash from disease, and may not be aware of appropriate treatment strategies for this generally manageable adverse event. The objective of this report was to combine results from published literature with experiences and recommendations from multiple investigators and institutions into clinical best practice recommendations to assist healthcare providers in identifying and managing mogamulizumab-associated rash. Optimal management, which includes biopsy confirmation and steroid treatment, requires a multidisciplinary approach among oncology, dermatology, and pathology practitioners. INFOGRAPHIC.

Meet the expert: Topical management of vulvar dermatoses.

Vulvar dermatoses are often debilitating chronic skin conditions associated with pain and pruritus. In oncologic patients, cancer treatments can precipitate and exacerbate vulvar dermatoses. Cytotoxic chemotherapy, hormonal therapies, and local pelvic radiation therapy can lead to vulvar symptoms, and cancer treatment-induced vulvar conditions include graft-versus-host-disease and radiation dermatitis. There have also been reports of lichen sclerosus development or exacerbation secondary to hormonal therapy and immune checkpoint inhibitors, attributed to proposed hormonal and immunologic pathogenesis of lichen sclerosus. Early recognition and treatment of these conditions can significantly improve quality of life. In this review, we summarize the clinical features and management characteristics of six types of common vulvar dermatoses that may present in the oncologic patient.

A phase 2 biomarker-driven study of ruxolitinib demonstrates effectiveness of JAK/STAT targeting in T-cell lymphomas.

Signaling through JAK1 and/or JAK2 is common among tumor and nontumor cells within peripheral T-cell lymphoma (PTCL). No oral therapies are approved for PTCL, and better treatments for relapsed/refractory disease are urgently needed. We conducted a phase 2 study of the JAK1/2 inhibitor ruxolitinib for patients with relapsed/refractory PTCL (n = 45) or mycosis fungoides (MF) (n = 7). Patients enrolled onto 1 of 3 biomarker-defined cohorts: (1) activating JAK and/or STAT mutations, (2) ≥30% pSTAT3 expression among tumor cells by immunohistochemistry, or (3) neither or insufficient tissue to assess. Patients received ruxolitinib 20 mg PO twice daily until progression and were assessed for response after cycles 2 and 5 and every 3 cycles thereafter. The primary endpoint was clinical benefit rate (CBR), defined as the combination of complete response, partial response (PR), and stable disease lasting at least 6 months. Only 1 of 7 patients with MF had CBR (ongoing PR > 18 months). CBR among the PTCL cases (n = 45) in cohorts 1, 2, and 3 were 53%, 45%, and 13% (cohorts 1 & 2 vs 3, P = .02), respectively. Eight patients had CBR > 12 months (5 ongoing), including 4 of 5 patients with T-cell large granular lymphocytic leukemia. In an exploratory analysis using multiplex immunofluorescence, expression of phosphorylated S6, a marker of PI3 kinase or mitogen-activated protein kinase activation, in <25% of tumor cells was associated with response to ruxolitinib (P = .05). Our findings indicate that ruxolitinib is active across various PTCL subtypes and support a precision therapy approach to JAK/STAT inhibition in patients with PTCL. This trial was registered at www.clincialtrials.gov as #NCT02974647.

Acute motor-sensory axonal polyneuropathy variant of Guillain-Barre syndrome complicating the recovery phase of coronavirus disease 2019 infection: a case report.

INTRODUCTION: The novel coronavirus, since its first identification in China, in December 2019, has shown remarkable heterogeneity in its clinical behavior. It has affected humans on every continent. Clinically, it has affected every organ system. The outcome has also been variable, with most of the older patients showing grave outcomes as compared with the younger individuals. Here we present a rare and severe variant of Guillain-Barre syndrome that complicated the disease in recovery phase. CASE PRESENTATION: A 60-year-old Afghan man, who had been recovering from symptoms related to novel coronavirus associated disease, presented with sudden onset of progressive muscle weakness and oxygen desaturation. Electrophysiological workup confirmed the diagnosis of Guillain-Barre syndrome, and early institution of intravenous immunoglobulin resulted in complete resolution. CONCLUSION: Guillain-Barre syndrome has recently been reported in many patients diagnosed with novel coronavirus associated disease. While clinical suspicion is mandatory to guide towards an effective diagnostic workup, early diagnosis of this complication and timely institution of therapeutic interventions are indispensable and lifesaving.

Primary cutaneous T-cell lymphomas other than mycosis fungoides and Sézary syndrome. Part I: Clinical and histologic features and diagnosis.

Primary cutaneous T-cell lymphomas (CTCLs) are defined as lymphomas with a T-cell phenotype that present in the skin without evidence of systemic or extracutaneous disease at initial presentation. CTCLs other than mycosis fungoides and Sézary syndrome (SS) account for approximately one third of CTCLs and encompass a heterogenous group of non-Hodgkin lymphomas, ranging from indolent lymphoproliferative disorders to aggressive malignancies with a poor prognosis. The spectrum of CTCLs continues to broaden as new provisional entities are classified. Given the morphologic and histologic overlap among CTCLs and other diagnoses, a thorough clinical history, physical evaluation, and clinicopathologic correlation are essential in the work up and diagnosis of these rare entities. This article will summarize the epidemiologic, clinical, pathologic, and diagnostic features of CTCLs other than mycosis fungoides and SS.